Incidental Mutation 'R9426:Scmh1'
| ID |
712620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scmh1
|
| Ensembl Gene |
ENSMUSG00000000085 |
| Gene Name |
sex comb on midleg homolog 1 |
| Synonyms |
Scml3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
120262478-120387383 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120362556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 264
(V264A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000087]
[ENSMUST00000064991]
[ENSMUST00000106298]
[ENSMUST00000106301]
|
| AlphaFold |
Q8K214 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000087
AA Change: V264A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: V264A
| 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
AA Change: V264A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: V264A
| 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
AA Change: V264A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: V264A
| 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
AA Change: V264A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: V264A
| 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 benign
Transcript: ENSMUST00000122860
|
| SMART Domains |
Protein: ENSMUSP00000120950
Gene: ENSMUSG00000000085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3588
|
60 |
120 |
4.3e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0737 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
| Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,034 (GRCm39) |
F908S |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
| Asmt |
G |
A |
X: 169,110,199 (GRCm39) |
G236E |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,220 (GRCm39) |
Y177C |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,814,237 (GRCm39) |
I199T |
probably damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,914 (GRCm39) |
F172Y |
possibly damaging |
Het |
| Cldnd2 |
A |
T |
7: 43,092,688 (GRCm39) |
I160F |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
C |
G |
1: 55,106,719 (GRCm39) |
L175V |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,751,176 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,843,281 (GRCm39) |
H723L |
possibly damaging |
Het |
| Fhod1 |
C |
T |
8: 106,056,490 (GRCm39) |
R1100Q |
probably benign |
Het |
| Hao1 |
T |
A |
2: 134,347,555 (GRCm39) |
H250L |
probably benign |
Het |
| Has3 |
A |
G |
8: 107,600,823 (GRCm39) |
Y95C |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,879,289 (GRCm39) |
K270* |
probably null |
Het |
| Kcnq5 |
A |
G |
1: 21,473,118 (GRCm39) |
F710L |
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,899,979 (GRCm39) |
T560I |
possibly damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
| Nfib |
T |
G |
4: 82,416,529 (GRCm39) |
T170P |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,625 (GRCm39) |
L141* |
probably null |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prkcg |
C |
T |
7: 3,375,975 (GRCm39) |
S540F |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,828,491 (GRCm39) |
S34G |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,087,649 (GRCm39) |
N191D |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
| Snrk |
T |
A |
9: 121,986,326 (GRCm39) |
Y232N |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
| Spmip3 |
T |
A |
1: 177,570,834 (GRCm39) |
L56* |
probably null |
Het |
| St6galnac6 |
T |
C |
2: 32,505,094 (GRCm39) |
I202T |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,694,873 (GRCm39) |
T297A |
probably damaging |
Het |
| Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
| Tcp10c |
T |
C |
17: 13,584,463 (GRCm39) |
S275P |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
probably 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 |
|
|
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 |
|
|
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 |
|
|
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'- ATCCCAGTTCTGAGCCTCTG -3'
(R):5'- CCTGTACCTCTTTCTGGGAAAC -3'
Sequencing Primer
(F):5'- AGCCCATTTGAGTGGCATC -3'
(R):5'- GGAAACCCACGTTTTTACCTAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation