Incidental Mutation 'IGL03189:Suco'
ID |
412599 |
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 # |
IGL03189
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 161684906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048377]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048377
|
SMART Domains |
Protein: ENSMUSP00000044815 Gene: ENSMUSG00000040297
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 |
probably benign
Transcript: ENSMUST00000191975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192570
|
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 |
Abcb1b |
A |
G |
5: 8,895,814 (GRCm39) |
T916A |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,161,897 (GRCm39) |
Y50* |
probably null |
Het |
Adprs |
T |
C |
4: 126,211,087 (GRCm39) |
|
probably benign |
Het |
Ahnak |
G |
A |
19: 8,988,603 (GRCm39) |
V3296M |
possibly damaging |
Het |
Bfar |
A |
G |
16: 13,505,365 (GRCm39) |
D125G |
possibly damaging |
Het |
Bmp3 |
A |
T |
5: 99,020,579 (GRCm39) |
Q334L |
probably benign |
Het |
Camsap2 |
A |
T |
1: 136,209,400 (GRCm39) |
D697E |
probably damaging |
Het |
Car11 |
A |
G |
7: 45,351,879 (GRCm39) |
T103A |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,739,391 (GRCm39) |
S1373T |
probably benign |
Het |
Cenpm |
A |
G |
15: 82,118,634 (GRCm39) |
V160A |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,660,168 (GRCm39) |
I365F |
possibly damaging |
Het |
Col20a1 |
C |
T |
2: 180,651,200 (GRCm39) |
Q1089* |
probably null |
Het |
Csf1r |
A |
T |
18: 61,239,058 (GRCm39) |
T13S |
probably benign |
Het |
Fam13a |
T |
C |
6: 58,933,843 (GRCm39) |
E249G |
probably damaging |
Het |
Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,362,368 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
T |
C |
11: 121,320,456 (GRCm39) |
I267T |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,890,930 (GRCm39) |
I2820F |
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,872,939 (GRCm39) |
I771V |
probably damaging |
Het |
Gata3os |
A |
G |
2: 9,888,634 (GRCm39) |
|
probably benign |
Het |
Glis1 |
A |
G |
4: 107,472,248 (GRCm39) |
Y275C |
probably damaging |
Het |
Hdgf |
A |
G |
3: 87,820,735 (GRCm39) |
T62A |
possibly damaging |
Het |
Hsd17b3 |
C |
T |
13: 64,210,901 (GRCm39) |
|
probably null |
Het |
Ift56 |
C |
T |
6: 38,402,166 (GRCm39) |
P553S |
probably benign |
Het |
Iqgap1 |
T |
A |
7: 80,363,590 (GRCm39) |
Y1655F |
probably benign |
Het |
Izumo1 |
A |
G |
7: 45,274,588 (GRCm39) |
D181G |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,268,822 (GRCm39) |
|
probably benign |
Het |
Mark1 |
T |
C |
1: 184,651,890 (GRCm39) |
N95S |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,147,763 (GRCm39) |
K658E |
probably damaging |
Het |
Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,435,504 (GRCm39) |
D187G |
probably benign |
Het |
Mrpl19 |
G |
T |
6: 81,938,974 (GRCm39) |
S276* |
probably null |
Het |
Ncoa2 |
G |
A |
1: 13,260,360 (GRCm39) |
T105M |
probably damaging |
Het |
Nop14 |
A |
G |
5: 34,807,972 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
A |
G |
2: 85,653,902 (GRCm39) |
T196A |
probably benign |
Het |
Or2aj5 |
T |
C |
16: 19,425,341 (GRCm39) |
T26A |
probably benign |
Het |
Or5w19 |
G |
A |
2: 87,698,559 (GRCm39) |
A75T |
possibly damaging |
Het |
Otud7b |
G |
A |
3: 96,062,795 (GRCm39) |
S678N |
probably benign |
Het |
Pcdhb6 |
G |
A |
18: 37,469,205 (GRCm39) |
V25M |
probably damaging |
Het |
Prpf39 |
G |
T |
12: 65,090,076 (GRCm39) |
G5* |
probably null |
Het |
Serpinb9d |
T |
C |
13: 33,386,895 (GRCm39) |
V321A |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,067,702 (GRCm39) |
S613P |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,857,452 (GRCm39) |
I55T |
probably benign |
Het |
Spata13 |
T |
C |
14: 60,929,063 (GRCm39) |
I207T |
possibly damaging |
Het |
Svs5 |
A |
G |
2: 164,079,032 (GRCm39) |
S292P |
possibly damaging |
Het |
Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
Tmem45a |
A |
T |
16: 56,631,936 (GRCm39) |
Y227* |
probably null |
Het |
Tnfsf15 |
A |
G |
4: 63,648,289 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,296,589 (GRCm39) |
R732L |
possibly damaging |
Het |
Wdr7 |
C |
T |
18: 63,893,672 (GRCm39) |
T602I |
probably benign |
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 |
IGL02638:Suco
|
APN |
1 |
161,655,256 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |