Incidental Mutation 'IGL02530:Scmh1'
ID |
297292 |
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 # |
IGL02530
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
120262478-120387383 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 120385343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000087]
[ENSMUST00000062990]
[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: ENSMUST00000062990
|
SMART Domains |
Protein: ENSMUSP00000050896 Gene: ENSMUSG00000047518
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
low complexity region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:AlbA_2
|
224 |
359 |
2.1e-30 |
PFAM |
coiled coil region
|
369 |
401 |
N/A |
INTRINSIC |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133290
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136801
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
T |
C |
7: 66,559,124 (GRCm39) |
F305L |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,291,398 (GRCm39) |
H1345R |
probably benign |
Het |
Bloc1s5 |
A |
T |
13: 38,787,859 (GRCm39) |
M175K |
probably damaging |
Het |
C9 |
T |
A |
15: 6,526,613 (GRCm39) |
M549K |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,845,007 (GRCm39) |
|
probably benign |
Het |
Cntnap2 |
A |
T |
6: 46,998,670 (GRCm39) |
K907N |
possibly damaging |
Het |
Cox8c |
T |
A |
12: 102,865,752 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp26b1 |
A |
T |
6: 84,551,294 (GRCm39) |
N307K |
possibly damaging |
Het |
Cyp2s1 |
T |
C |
7: 25,515,849 (GRCm39) |
|
probably benign |
Het |
Dpysl2 |
G |
A |
14: 67,061,847 (GRCm39) |
T253I |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Egflam |
T |
A |
15: 7,252,293 (GRCm39) |
I835F |
probably damaging |
Het |
Eif5a |
A |
T |
11: 69,809,989 (GRCm39) |
H51Q |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,539,422 (GRCm39) |
I637N |
probably damaging |
Het |
Gpr173 |
T |
A |
X: 151,130,092 (GRCm39) |
H127L |
probably damaging |
Het |
Klc3 |
T |
C |
7: 19,130,969 (GRCm39) |
I203V |
probably benign |
Het |
Lsg1 |
T |
C |
16: 30,390,060 (GRCm39) |
K352E |
probably benign |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Med12l |
G |
T |
3: 58,984,510 (GRCm39) |
D483Y |
probably damaging |
Het |
Mlh1 |
A |
G |
9: 111,058,943 (GRCm39) |
Y694H |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,935,160 (GRCm39) |
R219G |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,450,646 (GRCm39) |
|
probably benign |
Het |
Or2y1f |
A |
T |
11: 49,184,555 (GRCm39) |
M136L |
possibly damaging |
Het |
Or8k33 |
C |
T |
2: 86,384,224 (GRCm39) |
M81I |
possibly damaging |
Het |
Pax3 |
A |
T |
1: 78,098,424 (GRCm39) |
S322T |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Plekhb2 |
T |
C |
1: 34,916,022 (GRCm39) |
V187A |
possibly damaging |
Het |
Pot1a |
A |
T |
6: 25,794,592 (GRCm39) |
F31I |
probably damaging |
Het |
Rpap1 |
A |
T |
2: 119,613,720 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,560,522 (GRCm39) |
T1251A |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,001,634 (GRCm39) |
V148A |
probably benign |
Het |
Slit3 |
A |
G |
11: 35,598,969 (GRCm39) |
*1524W |
probably null |
Het |
Son |
C |
A |
16: 91,455,359 (GRCm39) |
P1369T |
possibly damaging |
Het |
Spp2 |
T |
A |
1: 88,338,868 (GRCm39) |
L25* |
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,090,976 (GRCm39) |
Q1405R |
probably damaging |
Het |
Traf3ip2 |
G |
T |
10: 39,522,902 (GRCm39) |
A463S |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,960,617 (GRCm39) |
E27G |
probably damaging |
Het |
Vmn2r12 |
C |
T |
5: 109,233,858 (GRCm39) |
V785I |
probably damaging |
Het |
Zc3h8 |
A |
G |
2: 128,785,846 (GRCm39) |
|
probably benign |
Het |
Zfp57 |
T |
A |
17: 37,317,056 (GRCm39) |
S45T |
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 |
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 |
2015-04-16 |