Incidental Mutation 'IGL03328:Suco'
ID |
416753 |
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 # |
IGL03328
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 161647990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 1099
(P1099T)
|
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: P1099T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044815 Gene: ENSMUSG00000040297 AA Change: P1099T
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: 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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,211,355 (GRCm39) |
M1556L |
probably benign |
Het |
Aicda |
T |
G |
6: 122,539,396 (GRCm39) |
D187E |
probably benign |
Het |
Arfgap3 |
A |
C |
15: 83,227,282 (GRCm39) |
F43L |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,508,412 (GRCm39) |
E368G |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,251,401 (GRCm39) |
E33G |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,208,316 (GRCm39) |
K437* |
probably null |
Het |
Brwd1 |
A |
T |
16: 95,803,925 (GRCm39) |
W2082R |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,134,927 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
A |
G |
16: 44,653,882 (GRCm39) |
I226M |
possibly damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,148 (GRCm39) |
E73G |
probably damaging |
Het |
Chaf1a |
T |
G |
17: 56,370,374 (GRCm39) |
F613C |
probably damaging |
Het |
Clybl |
G |
T |
14: 122,639,406 (GRCm39) |
K323N |
probably damaging |
Het |
Coa7 |
A |
G |
4: 108,195,479 (GRCm39) |
D136G |
probably damaging |
Het |
Col5a2 |
C |
A |
1: 45,415,306 (GRCm39) |
V1478L |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,921,993 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
T |
G |
17: 32,739,600 (GRCm39) |
M174R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,831,354 (GRCm39) |
D794V |
probably benign |
Het |
Eapp |
A |
G |
12: 54,738,878 (GRCm39) |
S87P |
probably benign |
Het |
Efnb3 |
A |
G |
11: 69,448,031 (GRCm39) |
I137T |
probably damaging |
Het |
Eif4e |
T |
A |
3: 138,259,488 (GRCm39) |
|
probably benign |
Het |
Fam83b |
T |
A |
9: 76,400,324 (GRCm39) |
I260L |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,929,619 (GRCm39) |
T4008A |
probably damaging |
Het |
Fut8 |
A |
T |
12: 77,412,003 (GRCm39) |
R118W |
probably damaging |
Het |
Glt1d1 |
A |
C |
5: 127,734,183 (GRCm39) |
D119A |
probably benign |
Het |
Gm3727 |
T |
A |
14: 7,261,685 (GRCm38) |
*206C |
probably null |
Het |
Gmip |
G |
A |
8: 70,264,261 (GRCm39) |
V174M |
possibly damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,417,983 (GRCm39) |
|
probably null |
Het |
Haao |
C |
T |
17: 84,154,078 (GRCm39) |
C23Y |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,453,728 (GRCm39) |
V400E |
probably damaging |
Het |
Keg1 |
A |
G |
19: 12,696,461 (GRCm39) |
N215S |
probably damaging |
Het |
Lss |
T |
G |
10: 76,376,785 (GRCm39) |
I334S |
probably damaging |
Het |
Lyn |
A |
C |
4: 3,745,327 (GRCm39) |
E77D |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,210 (GRCm39) |
E1426G |
probably benign |
Het |
Ncapg2 |
A |
G |
12: 116,403,677 (GRCm39) |
E863G |
possibly damaging |
Het |
Ncl |
T |
C |
1: 86,280,319 (GRCm39) |
Y496C |
probably damaging |
Het |
Nefm |
A |
T |
14: 68,358,739 (GRCm39) |
S432T |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,096 (GRCm39) |
Y95C |
possibly damaging |
Het |
Npc1l1 |
C |
A |
11: 6,168,643 (GRCm39) |
E913* |
probably null |
Het |
Nup205 |
T |
C |
6: 35,209,349 (GRCm39) |
L1552P |
probably damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,539 (GRCm39) |
N290D |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,854,199 (GRCm39) |
Y49* |
probably null |
Het |
Or52h7 |
T |
A |
7: 104,213,677 (GRCm39) |
V83D |
probably damaging |
Het |
Or7c70 |
C |
T |
10: 78,683,201 (GRCm39) |
E183K |
probably benign |
Het |
Osm |
A |
C |
11: 4,188,426 (GRCm39) |
I18L |
unknown |
Het |
Otoa |
T |
A |
7: 120,710,217 (GRCm39) |
S254R |
probably damaging |
Het |
Parp1 |
T |
C |
1: 180,427,155 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,551 (GRCm39) |
I1010V |
probably benign |
Het |
Peli2 |
A |
T |
14: 48,490,032 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
G |
8: 110,388,738 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,151,524 (GRCm39) |
|
probably benign |
Het |
Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
Potegl |
A |
T |
2: 23,102,817 (GRCm39) |
Y185F |
possibly damaging |
Het |
Ptpn13 |
A |
T |
5: 103,664,214 (GRCm39) |
T401S |
probably benign |
Het |
Rgs22 |
C |
T |
15: 36,043,350 (GRCm39) |
|
probably null |
Het |
Rttn |
T |
G |
18: 89,061,152 (GRCm39) |
S1107A |
probably benign |
Het |
Scn5a |
G |
T |
9: 119,366,702 (GRCm39) |
N328K |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,217,089 (GRCm39) |
A1325T |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,588,595 (GRCm39) |
E80V |
probably benign |
Het |
Stard7 |
T |
C |
2: 127,134,176 (GRCm39) |
|
probably benign |
Het |
Syn2 |
G |
T |
6: 115,251,221 (GRCm39) |
C459F |
probably damaging |
Het |
Tas2r117 |
A |
C |
6: 132,780,041 (GRCm39) |
I60L |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,965,150 (GRCm39) |
C445R |
probably damaging |
Het |
Tpsab1 |
T |
A |
17: 25,564,102 (GRCm39) |
D87V |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,536,416 (GRCm39) |
Y158C |
unknown |
Het |
Trpm6 |
A |
T |
19: 18,815,446 (GRCm39) |
E1177D |
possibly damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,273,499 (GRCm39) |
D771V |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,525,220 (GRCm39) |
T293S |
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 |
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 |
IGL03189:Suco
|
APN |
1 |
161,684,906 (GRCm39) |
unclassified |
probably benign |
|
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 |