Incidental Mutation 'IGL01613:Scmh1'
| ID |
92282 |
| 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 # |
IGL01613
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120405281-120530186 bp(+) (GRCm38) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 120529900 bp (GRCm38)
|
| 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: ENSMUST00000136801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144862
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
Strain: 3706668
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 |
|---|
| Aacs |
T |
G |
5: 125,512,652 (GRCm38) |
M446R |
possibly damaging |
Het |
| Abca16 |
A |
G |
7: 120,541,277 (GRCm38) |
N1599S |
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,713,146 (GRCm38) |
Q528* |
probably null |
Het |
| Ano10 |
A |
T |
9: 122,259,540 (GRCm38) |
L347M |
possibly damaging |
Het |
| Bag6 |
T |
C |
17: 35,143,016 (GRCm38) |
|
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,353,994 (GRCm38) |
V182A |
possibly damaging |
Het |
| Capn13 |
G |
T |
17: 73,331,058 (GRCm38) |
T450N |
probably benign |
Het |
| Cbr3 |
A |
T |
16: 93,683,443 (GRCm38) |
E40V |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,228,387 (GRCm38) |
I159T |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,425,071 (GRCm38) |
D65G |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,335,302 (GRCm38) |
|
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,763,461 (GRCm38) |
T256I |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,190,713 (GRCm38) |
H687R |
probably benign |
Het |
| Elovl1 |
T |
C |
4: 118,431,270 (GRCm38) |
V108A |
probably benign |
Het |
| Emb |
T |
A |
13: 117,272,078 (GRCm38) |
N318K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,639,939 (GRCm38) |
L36P |
probably damaging |
Het |
| Esco2 |
T |
G |
14: 65,826,595 (GRCm38) |
H380P |
possibly damaging |
Het |
| Gm9747 |
G |
A |
1: 82,234,088 (GRCm38) |
|
probably benign |
Het |
| Golga1 |
A |
G |
2: 39,020,126 (GRCm38) |
M603T |
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,627,278 (GRCm38) |
V411A |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 140,107,364 (GRCm38) |
G66S |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,885,198 (GRCm38) |
|
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,100,768 (GRCm38) |
A253S |
probably damaging |
Het |
| Met |
A |
G |
6: 17,540,577 (GRCm38) |
Y834C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,134,158 (GRCm38) |
T2A |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,197,344 (GRCm38) |
V1929L |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,301,710 (GRCm38) |
S1472P |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,341,273 (GRCm38) |
|
probably benign |
Het |
| Ndufaf7 |
A |
G |
17: 78,937,502 (GRCm38) |
I17V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,835,808 (GRCm38) |
T46A |
probably damaging |
Het |
| Or5ak22 |
C |
T |
2: 85,400,171 (GRCm38) |
D121N |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 59,109,921 (GRCm38) |
S230T |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,705,623 (GRCm38) |
I248M |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,875,321 (GRCm38) |
|
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,606,554 (GRCm38) |
I30V |
probably null |
Het |
| Or8k1 |
T |
G |
2: 86,217,161 (GRCm38) |
D183A |
probably damaging |
Het |
| Ppef2 |
T |
C |
5: 92,235,820 (GRCm38) |
E477G |
probably benign |
Het |
| Scn1a |
C |
A |
2: 66,285,937 (GRCm38) |
D1473Y |
probably damaging |
Het |
| Sdr42e1 |
C |
T |
8: 117,662,937 (GRCm38) |
V322I |
probably benign |
Het |
| Slco1a7 |
G |
T |
6: 141,713,214 (GRCm38) |
T552K |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,208,394 (GRCm38) |
A1089T |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,475,620 (GRCm38) |
Y424H |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,183 (GRCm38) |
F108L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,974,964 (GRCm38) |
N177S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,120,576 (GRCm38) |
D401G |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,307,067 (GRCm38) |
F650L |
possibly damaging |
Het |
| Wdr12 |
T |
C |
1: 60,080,559 (GRCm38) |
H385R |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,610,880 (GRCm38) |
M745V |
probably benign |
Het |
|
| Other mutations in Scmh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01962:Scmh1
|
APN |
4 |
120,483,584 (GRCm38) |
splice site |
probably benign |
|
|
IGL02013:Scmh1
|
APN |
4 |
120,483,732 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02081:Scmh1
|
APN |
4 |
120,515,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02223:Scmh1
|
APN |
4 |
120,515,219 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL02530:Scmh1
|
APN |
4 |
120,528,146 (GRCm38) |
splice site |
probably benign |
|
|
IGL02887:Scmh1
|
APN |
4 |
120,468,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0024:Scmh1
|
UTSW |
4 |
120,478,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0164:Scmh1
|
UTSW |
4 |
120,529,865 (GRCm38) |
unclassified |
probably benign |
|
|
R0164:Scmh1
|
UTSW |
4 |
120,529,865 (GRCm38) |
unclassified |
probably benign |
|
|
R0200:Scmh1
|
UTSW |
4 |
120,483,831 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1598:Scmh1
|
UTSW |
4 |
120,515,130 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1624:Scmh1
|
UTSW |
4 |
120,529,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2276:Scmh1
|
UTSW |
4 |
120,483,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3734:Scmh1
|
UTSW |
4 |
120,478,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4167:Scmh1
|
UTSW |
4 |
120,529,276 (GRCm38) |
intron |
probably benign |
|
|
R4570:Scmh1
|
UTSW |
4 |
120,528,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5458:Scmh1
|
UTSW |
4 |
120,505,281 (GRCm38) |
unclassified |
probably benign |
|
|
R5564:Scmh1
|
UTSW |
4 |
120,468,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5700:Scmh1
|
UTSW |
4 |
120,516,946 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5991:Scmh1
|
UTSW |
4 |
120,522,620 (GRCm38) |
missense |
probably benign |
|
|
R5999:Scmh1
|
UTSW |
4 |
120,505,515 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7097:Scmh1
|
UTSW |
4 |
120,525,055 (GRCm38) |
missense |
probably benign |
|
|
R7432:Scmh1
|
UTSW |
4 |
120,529,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8327:Scmh1
|
UTSW |
4 |
120,522,502 (GRCm38) |
missense |
probably benign |
|
|
R8680:Scmh1
|
UTSW |
4 |
120,462,134 (GRCm38) |
missense |
probably benign |
|
|
R8745:Scmh1
|
UTSW |
4 |
120,505,362 (GRCm38) |
nonsense |
probably null |
|
|
R9018:Scmh1
|
UTSW |
4 |
120,505,317 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9141:Scmh1
|
UTSW |
4 |
120,505,359 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9283:Scmh1
|
UTSW |
4 |
120,462,140 (GRCm38) |
missense |
probably benign |
|
|
R9426:Scmh1
|
UTSW |
4 |
120,505,359 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9454:Scmh1
|
UTSW |
4 |
120,515,079 (GRCm38) |
missense |
probably benign |
|
|
R9487:Scmh1
|
UTSW |
4 |
120,463,087 (GRCm38) |
nonsense |
probably null |
|
|
R9617:Scmh1
|
UTSW |
4 |
120,483,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9775:Scmh1
|
UTSW |
4 |
120,483,623 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Scmh1
|
UTSW |
4 |
120,478,042 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation