Incidental Mutation 'IGL01962:Scmh1'
| ID |
182446 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scmh1
|
| Ensembl Gene |
ENSMUSG00000000085 |
| Gene Name |
sex comb on midleg homolog 1 |
| Synonyms |
Scml3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120262478-120387383 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 120340781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000087]
[ENSMUST00000064991]
[ENSMUST00000106298]
[ENSMUST00000106301]
|
| AlphaFold |
Q8K214 |
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,324,514 (GRCm39) |
F253S |
probably benign |
Het |
| AI429214 |
T |
A |
8: 37,461,383 (GRCm39) |
I177N |
probably damaging |
Het |
| Astn1 |
C |
A |
1: 158,496,201 (GRCm39) |
T1077K |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,655,502 (GRCm39) |
I1171L |
probably benign |
Het |
| Cdca2 |
A |
T |
14: 67,943,172 (GRCm39) |
S206T |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,248,319 (GRCm39) |
M858V |
possibly damaging |
Het |
| Cyp2j12 |
C |
T |
4: 95,987,999 (GRCm39) |
A464T |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,190,134 (GRCm39) |
D2787E |
possibly damaging |
Het |
| Hmx3 |
G |
A |
7: 131,146,000 (GRCm39) |
R236H |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,529,318 (GRCm39) |
C330* |
probably null |
Het |
| Klrc1 |
A |
T |
6: 129,655,865 (GRCm39) |
N3K |
probably damaging |
Het |
| Nars1 |
A |
G |
18: 64,643,554 (GRCm39) |
F142L |
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,825,401 (GRCm39) |
S365G |
possibly damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,787 (GRCm39) |
H191L |
probably benign |
Het |
| Or2ag15 |
G |
A |
7: 106,340,991 (GRCm39) |
T50I |
probably benign |
Het |
| Or51s1 |
T |
G |
7: 102,559,054 (GRCm39) |
|
probably benign |
Het |
| Or8k17 |
C |
A |
2: 86,066,456 (GRCm39) |
R234M |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,057 (GRCm39) |
T456A |
possibly damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,454,093 (GRCm39) |
D158N |
probably damaging |
Het |
| Pcsk2 |
C |
T |
2: 143,655,552 (GRCm39) |
Q579* |
probably null |
Het |
| Phactr4 |
G |
A |
4: 132,091,086 (GRCm39) |
R577W |
probably damaging |
Het |
| Rbms3 |
T |
C |
9: 116,524,879 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
T |
G |
3: 79,594,175 (GRCm39) |
D73A |
probably damaging |
Het |
| Syk |
T |
G |
13: 52,764,993 (GRCm39) |
L40R |
probably damaging |
Het |
| Tcn2 |
T |
C |
11: 3,875,072 (GRCm39) |
N153S |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,336,678 (GRCm39) |
L502P |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,767,265 (GRCm39) |
V744A |
possibly damaging |
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 |
|
|
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 |
|
|
R5999:Scmh1
|
UTSW |
4 |
120,362,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation