Incidental Mutation 'IGL02638:Suco'
| ID |
301616 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Suco
|
| Ensembl Gene |
ENSMUSG00000040297 |
| Gene Name |
SUN domain containing ossification factor |
| Synonyms |
AI848100, osteopotentia, Opt |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
IGL02638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 161655256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1079
(S1079P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048377]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048377
AA Change: S1079P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: S1079P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
325 |
455 |
9e-43 |
PFAM |
|
low complexity region
|
665 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
coiled coil region
|
933 |
1009 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1119 |
N/A |
INTRINSIC |
|
low complexity region
|
1163 |
1176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192573
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a mutation in this gene display background strain-dependent neonatal and postnatal lethality, and impaired osteoblast differentiation resulting in impaired bone formation, brittle bones, and impaired fracture repair. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
T |
A |
2: 93,838,458 (GRCm39) |
T38S |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,656,422 (GRCm39) |
V895A |
possibly damaging |
Het |
| Cdkn2c |
A |
G |
4: 109,522,209 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
C |
3: 144,631,939 (GRCm39) |
C189G |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,629,682 (GRCm39) |
N292I |
possibly damaging |
Het |
| Dkk3 |
A |
C |
7: 111,748,234 (GRCm39) |
S123R |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,748,209 (GRCm39) |
A1557V |
probably benign |
Het |
| E130308A19Rik |
C |
T |
4: 59,719,676 (GRCm39) |
Q403* |
probably null |
Het |
| F5 |
G |
A |
1: 164,012,177 (GRCm39) |
|
probably null |
Het |
| Fam98c |
T |
A |
7: 28,852,187 (GRCm39) |
D326V |
probably damaging |
Het |
| Firrm |
G |
A |
1: 163,786,868 (GRCm39) |
Q734* |
probably null |
Het |
| Frem2 |
A |
C |
3: 53,458,767 (GRCm39) |
V2034G |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 124,958,318 (GRCm39) |
G18D |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,778,293 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,601,946 (GRCm39) |
G755D |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,277,630 (GRCm39) |
N187S |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,232,380 (GRCm39) |
T776A |
probably damaging |
Het |
| Matcap2 |
A |
T |
9: 22,341,775 (GRCm39) |
K149* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,104 (GRCm39) |
W860R |
possibly damaging |
Het |
| Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
| Nup42 |
A |
G |
5: 24,380,505 (GRCm39) |
T167A |
probably benign |
Het |
| Or10j2 |
A |
G |
1: 173,097,898 (GRCm39) |
D52G |
probably benign |
Het |
| Or2z2 |
C |
A |
11: 58,345,873 (GRCm39) |
A301S |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,249 (GRCm39) |
D180G |
probably damaging |
Het |
| Or5w10 |
T |
C |
2: 87,375,093 (GRCm39) |
Y265C |
probably damaging |
Het |
| Or8j3c |
T |
C |
2: 86,254,021 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
C |
7: 101,886,629 (GRCm39) |
L217P |
probably damaging |
Het |
| Pik3c2b |
T |
G |
1: 133,005,056 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
T |
A |
7: 45,006,092 (GRCm39) |
D149V |
probably damaging |
Het |
| Prkcb |
C |
T |
7: 122,200,063 (GRCm39) |
|
probably benign |
Het |
| Prl |
A |
G |
13: 27,245,562 (GRCm39) |
D97G |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,698 (GRCm39) |
|
noncoding transcript |
Het |
| Rnf112 |
T |
C |
11: 61,340,231 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
C |
A |
10: 89,412,465 (GRCm39) |
G323* |
probably null |
Het |
| Snx19 |
T |
C |
9: 30,343,660 (GRCm39) |
F607L |
possibly damaging |
Het |
| Taf5 |
T |
C |
19: 47,056,649 (GRCm39) |
L149P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,630 (GRCm39) |
M379V |
probably benign |
Het |
| Tcf25 |
T |
C |
8: 124,126,031 (GRCm39) |
F558L |
probably damaging |
Het |
| Tlcd1 |
T |
C |
11: 78,070,444 (GRCm39) |
V102A |
probably benign |
Het |
| Tmc5 |
G |
T |
7: 118,226,456 (GRCm39) |
A274S |
probably benign |
Het |
| Toporsl |
C |
T |
4: 52,611,624 (GRCm39) |
H506Y |
probably benign |
Het |
| Ubtd1 |
T |
C |
19: 42,022,109 (GRCm39) |
L127P |
possibly damaging |
Het |
| Usp24 |
A |
C |
4: 106,295,967 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
C |
A |
4: 106,295,969 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
T |
G |
11: 67,746,581 (GRCm39) |
D1042A |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,337,709 (GRCm39) |
T48A |
possibly damaging |
Het |
| Wnt2b |
A |
G |
3: 104,862,032 (GRCm39) |
I102T |
probably benign |
Het |
| Zfp763 |
T |
C |
17: 33,238,908 (GRCm39) |
D79G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,389 (GRCm39) |
Y45C |
probably damaging |
Het |
|
| Other mutations in Suco |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Suco
|
APN |
1 |
161,661,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01688:Suco
|
APN |
1 |
161,691,480 (GRCm39) |
splice site |
probably null |
|
|
IGL01794:Suco
|
APN |
1 |
161,655,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01891:Suco
|
APN |
1 |
161,666,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Suco
|
APN |
1 |
161,684,428 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02102:Suco
|
APN |
1 |
161,655,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Suco
|
APN |
1 |
161,646,195 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02358:Suco
|
APN |
1 |
161,646,195 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02392:Suco
|
APN |
1 |
161,662,136 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02650:Suco
|
APN |
1 |
161,676,322 (GRCm39) |
splice site |
probably benign |
|
|
IGL03106:Suco
|
APN |
1 |
161,662,049 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03189:Suco
|
APN |
1 |
161,684,906 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03328:Suco
|
APN |
1 |
161,647,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
girth
|
UTSW |
1 |
161,655,809 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
pleasingly
|
UTSW |
1 |
161,661,977 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
3-1:Suco
|
UTSW |
1 |
161,649,600 (GRCm39) |
intron |
probably benign |
|
|
H8562:Suco
|
UTSW |
1 |
161,680,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Suco
|
UTSW |
1 |
161,680,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Suco
|
UTSW |
1 |
161,673,154 (GRCm39) |
splice site |
probably null |
|
|
R0023:Suco
|
UTSW |
1 |
161,673,154 (GRCm39) |
splice site |
probably null |
|
|
R0179:Suco
|
UTSW |
1 |
161,703,874 (GRCm39) |
splice site |
probably benign |
|
|
R0299:Suco
|
UTSW |
1 |
161,681,379 (GRCm39) |
missense |
probably benign |
|
|
R0418:Suco
|
UTSW |
1 |
161,662,419 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0481:Suco
|
UTSW |
1 |
161,689,882 (GRCm39) |
unclassified |
probably benign |
|
|
R0610:Suco
|
UTSW |
1 |
161,691,601 (GRCm39) |
splice site |
probably benign |
|
|
R0610:Suco
|
UTSW |
1 |
161,687,072 (GRCm39) |
missense |
probably benign |
|
|
R0634:Suco
|
UTSW |
1 |
161,666,373 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0645:Suco
|
UTSW |
1 |
161,661,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Suco
|
UTSW |
1 |
161,685,025 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1720:Suco
|
UTSW |
1 |
161,661,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Suco
|
UTSW |
1 |
161,655,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1763:Suco
|
UTSW |
1 |
161,662,518 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1835:Suco
|
UTSW |
1 |
161,687,069 (GRCm39) |
nonsense |
probably null |
|
|
R1988:Suco
|
UTSW |
1 |
161,646,380 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2939:Suco
|
UTSW |
1 |
161,676,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Suco
|
UTSW |
1 |
161,671,565 (GRCm39) |
splice site |
probably null |
|
|
R3882:Suco
|
UTSW |
1 |
161,662,313 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4193:Suco
|
UTSW |
1 |
161,691,528 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4367:Suco
|
UTSW |
1 |
161,674,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Suco
|
UTSW |
1 |
161,672,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Suco
|
UTSW |
1 |
161,661,977 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4851:Suco
|
UTSW |
1 |
161,661,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Suco
|
UTSW |
1 |
161,662,274 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5329:Suco
|
UTSW |
1 |
161,660,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6133:Suco
|
UTSW |
1 |
161,662,752 (GRCm39) |
nonsense |
probably null |
|
|
R6632:Suco
|
UTSW |
1 |
161,655,809 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6643:Suco
|
UTSW |
1 |
161,687,001 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7378:Suco
|
UTSW |
1 |
161,689,780 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7405:Suco
|
UTSW |
1 |
161,655,783 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7509:Suco
|
UTSW |
1 |
161,672,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Suco
|
UTSW |
1 |
161,656,890 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7867:Suco
|
UTSW |
1 |
161,665,365 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7895:Suco
|
UTSW |
1 |
161,672,937 (GRCm39) |
splice site |
probably null |
|
|
R8440:Suco
|
UTSW |
1 |
161,679,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Suco
|
UTSW |
1 |
161,650,586 (GRCm39) |
intron |
probably benign |
|
|
R8781:Suco
|
UTSW |
1 |
161,645,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Suco
|
UTSW |
1 |
161,648,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9292:Suco
|
UTSW |
1 |
161,671,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Suco
|
UTSW |
1 |
161,684,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Suco
|
UTSW |
1 |
161,646,074 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9411:Suco
|
UTSW |
1 |
161,666,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9542:Suco
|
UTSW |
1 |
161,661,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation