Incidental Mutation 'R5999:Scmh1'
ID |
480714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scmh1
|
Ensembl Gene |
ENSMUSG00000000085 |
Gene Name |
sex comb on midleg homolog 1 |
Synonyms |
Scml3 |
MMRRC Submission |
044178-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5999 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
120262478-120387383 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 120362712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000087]
[ENSMUST00000000087]
[ENSMUST00000000087]
[ENSMUST00000000087]
[ENSMUST00000000087]
[ENSMUST00000000087]
[ENSMUST00000000087]
[ENSMUST00000000087]
[ENSMUST00000064991]
[ENSMUST00000064991]
[ENSMUST00000064991]
[ENSMUST00000064991]
[ENSMUST00000064991]
[ENSMUST00000064991]
[ENSMUST00000064991]
[ENSMUST00000064991]
[ENSMUST00000106298]
[ENSMUST00000106298]
[ENSMUST00000106298]
[ENSMUST00000106298]
[ENSMUST00000106298]
[ENSMUST00000106298]
[ENSMUST00000106298]
[ENSMUST00000106298]
[ENSMUST00000106301]
[ENSMUST00000106301]
[ENSMUST00000106301]
[ENSMUST00000106301]
[ENSMUST00000106301]
[ENSMUST00000106301]
[ENSMUST00000106301]
[ENSMUST00000106301]
|
AlphaFold |
Q8K214 |
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000000087
|
SMART Domains |
Protein: ENSMUSP00000000087 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064991
|
SMART Domains |
Protein: ENSMUSP00000069813 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
357 |
465 |
5.8e-39 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106298
|
SMART Domains |
Protein: ENSMUSP00000101905 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.3e-50 |
PFAM |
SAM
|
594 |
662 |
1.8e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106301
|
SMART Domains |
Protein: ENSMUSP00000101908 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
MBT
|
28 |
126 |
2.47e-48 |
SMART |
MBT
|
134 |
235 |
1.36e-45 |
SMART |
low complexity region
|
268 |
285 |
N/A |
INTRINSIC |
low complexity region
|
301 |
340 |
N/A |
INTRINSIC |
Pfam:DUF3588
|
354 |
468 |
4.7e-50 |
PFAM |
SAM
|
594 |
662 |
1.57e-10 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122860
|
SMART Domains |
Protein: ENSMUSP00000120950 Gene: ENSMUSG00000000085
Domain | Start | End | E-Value | Type |
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144555
|
Meta Mutation Damage Score |
0.9584 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
98% (55/56) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an allele lacking the SPM domain exhibit partial penetrance of posterior vertebral transformations and male infertility with azoospermia and arrest of spermatogenesis. Mice homozygous for a knock-out allele exhibit abnormal hematopoiesis but normal fertility and skeleton. [provided by MGI curators]
|
Allele List at MGI |
All alleles(67) : Targeted(4) Gene trapped(63)
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
probably benign |
Het |
|
Other mutations in Scmh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01613:Scmh1
|
APN |
4 |
120,387,097 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01962:Scmh1
|
APN |
4 |
120,340,781 (GRCm39) |
splice site |
probably benign |
|
IGL02013:Scmh1
|
APN |
4 |
120,340,929 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02081:Scmh1
|
APN |
4 |
120,372,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02223:Scmh1
|
APN |
4 |
120,372,416 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02530:Scmh1
|
APN |
4 |
120,385,343 (GRCm39) |
splice site |
probably benign |
|
IGL02887:Scmh1
|
APN |
4 |
120,325,586 (GRCm39) |
missense |
probably damaging |
1.00 |
P0024:Scmh1
|
UTSW |
4 |
120,335,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R0164:Scmh1
|
UTSW |
4 |
120,387,062 (GRCm39) |
unclassified |
probably benign |
|
R0164:Scmh1
|
UTSW |
4 |
120,387,062 (GRCm39) |
unclassified |
probably benign |
|
R0200:Scmh1
|
UTSW |
4 |
120,341,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R1598:Scmh1
|
UTSW |
4 |
120,372,327 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1624:Scmh1
|
UTSW |
4 |
120,386,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R2276:Scmh1
|
UTSW |
4 |
120,340,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Scmh1
|
UTSW |
4 |
120,335,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R4167:Scmh1
|
UTSW |
4 |
120,386,473 (GRCm39) |
intron |
probably benign |
|
R4570:Scmh1
|
UTSW |
4 |
120,385,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Scmh1
|
UTSW |
4 |
120,362,478 (GRCm39) |
unclassified |
probably benign |
|
R5564:Scmh1
|
UTSW |
4 |
120,325,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R5700:Scmh1
|
UTSW |
4 |
120,374,143 (GRCm39) |
missense |
probably benign |
0.10 |
R5991:Scmh1
|
UTSW |
4 |
120,379,817 (GRCm39) |
missense |
probably benign |
|
R7097:Scmh1
|
UTSW |
4 |
120,382,252 (GRCm39) |
missense |
probably benign |
|
R7432:Scmh1
|
UTSW |
4 |
120,386,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R8327:Scmh1
|
UTSW |
4 |
120,379,699 (GRCm39) |
missense |
probably benign |
|
R8680:Scmh1
|
UTSW |
4 |
120,319,331 (GRCm39) |
missense |
probably benign |
|
R8745:Scmh1
|
UTSW |
4 |
120,362,559 (GRCm39) |
nonsense |
probably null |
|
R9018:Scmh1
|
UTSW |
4 |
120,362,514 (GRCm39) |
missense |
probably benign |
0.01 |
R9141:Scmh1
|
UTSW |
4 |
120,362,556 (GRCm39) |
missense |
probably benign |
0.00 |
R9283:Scmh1
|
UTSW |
4 |
120,319,337 (GRCm39) |
missense |
probably benign |
|
R9426:Scmh1
|
UTSW |
4 |
120,362,556 (GRCm39) |
missense |
probably benign |
0.00 |
R9454:Scmh1
|
UTSW |
4 |
120,372,276 (GRCm39) |
missense |
probably benign |
|
R9487:Scmh1
|
UTSW |
4 |
120,320,284 (GRCm39) |
nonsense |
probably null |
|
R9617:Scmh1
|
UTSW |
4 |
120,340,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R9775:Scmh1
|
UTSW |
4 |
120,340,820 (GRCm39) |
missense |
probably benign |
|
Z1176:Scmh1
|
UTSW |
4 |
120,335,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCAAAACTGTCTTGGAGC -3'
(R):5'- GGCAGGACCGTTATCTATGG -3'
Sequencing Primer
(F):5'- AACTGTCTTGGAGCATCAGC -3'
(R):5'- CAGGACCGTTATCTATGGAAGAC -3'
|
Posted On |
2017-06-26 |