Incidental Mutation 'IGL01432:Suco'
| ID |
84160 |
| 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 # |
IGL01432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 161661689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 914
(V914A)
|
| 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: V914A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: V914A
| 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: ENSMUST00000194106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194388
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh9a1 |
T |
C |
1: 167,183,354 (GRCm39) |
S191P |
probably damaging |
Het |
| Aldoart2 |
A |
T |
12: 55,612,566 (GRCm39) |
I164F |
probably damaging |
Het |
| Anapc1 |
C |
A |
2: 128,475,328 (GRCm39) |
A1384S |
probably damaging |
Het |
| Arid5a |
T |
G |
1: 36,358,514 (GRCm39) |
S429A |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,125 (GRCm39) |
K892E |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,057,908 (GRCm39) |
V3166E |
possibly damaging |
Het |
| Bpnt1 |
G |
A |
1: 185,086,218 (GRCm39) |
W261* |
probably null |
Het |
| Calu |
A |
G |
6: 29,356,552 (GRCm39) |
D26G |
possibly damaging |
Het |
| Ccdc113 |
C |
T |
8: 96,264,885 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,605,405 (GRCm39) |
Y1003H |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,831,033 (GRCm39) |
K290R |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,967,835 (GRCm39) |
A140V |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,418,015 (GRCm39) |
I81M |
possibly damaging |
Het |
| Chn1 |
A |
T |
2: 73,462,096 (GRCm39) |
C236S |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,655,295 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
A |
T |
1: 17,817,025 (GRCm39) |
Q194L |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,596,895 (GRCm39) |
V1981A |
probably damaging |
Het |
| Cttn |
A |
G |
7: 144,015,043 (GRCm39) |
I55T |
probably damaging |
Het |
| Ddx46 |
G |
T |
13: 55,785,835 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
A |
T |
18: 38,030,557 (GRCm39) |
I299N |
unknown |
Het |
| Dll1 |
A |
G |
17: 15,588,768 (GRCm39) |
Y636H |
probably damaging |
Het |
| Eng |
A |
T |
2: 32,559,544 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,578,324 (GRCm39) |
V389A |
possibly damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,547,043 (GRCm39) |
T461S |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,268,434 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Gm5852 |
A |
G |
3: 93,635,086 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Gnrhr |
C |
T |
5: 86,330,052 (GRCm39) |
G323R |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,182,229 (GRCm39) |
E661D |
possibly damaging |
Het |
| Grik4 |
A |
T |
9: 42,432,472 (GRCm39) |
C842S |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,216,519 (GRCm39) |
|
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,591,089 (GRCm39) |
T314A |
probably damaging |
Het |
| Klhdc1 |
A |
C |
12: 69,298,751 (GRCm39) |
K112T |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,720,393 (GRCm39) |
T3865A |
unknown |
Het |
| Lgr5 |
T |
C |
10: 115,288,997 (GRCm39) |
K477R |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,206,351 (GRCm39) |
L106Q |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,675,655 (GRCm39) |
M26K |
probably damaging |
Het |
| Mettl2 |
T |
C |
11: 105,017,348 (GRCm39) |
V9A |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,864,202 (GRCm39) |
D456G |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,105,689 (GRCm39) |
T344A |
possibly damaging |
Het |
| Npr1 |
T |
A |
3: 90,370,543 (GRCm39) |
I308F |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,075,466 (GRCm39) |
V509M |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,924,583 (GRCm39) |
M5727V |
probably benign |
Het |
| Or2d4 |
T |
C |
7: 106,543,748 (GRCm39) |
I153M |
possibly damaging |
Het |
| Or4c114 |
T |
A |
2: 88,904,545 (GRCm39) |
I297F |
probably benign |
Het |
| Or4k15c |
T |
A |
14: 50,321,404 (GRCm39) |
T245S |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,891 (GRCm39) |
S45P |
probably damaging |
Het |
| Pcgf1 |
T |
C |
6: 83,055,398 (GRCm39) |
I11T |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,924,893 (GRCm39) |
V276A |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,202,168 (GRCm39) |
M1K |
probably null |
Het |
| Plec |
T |
C |
15: 76,074,728 (GRCm39) |
E413G |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,326,626 (GRCm39) |
A187S |
possibly damaging |
Het |
| Polq |
A |
T |
16: 36,892,184 (GRCm39) |
|
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,143,202 (GRCm39) |
K139E |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,541,216 (GRCm39) |
D240G |
probably benign |
Het |
| Ptpn12 |
A |
T |
5: 21,203,553 (GRCm39) |
Y408* |
probably null |
Het |
| Ptprt |
A |
G |
2: 162,109,999 (GRCm39) |
|
probably benign |
Het |
| Rnf6 |
A |
T |
5: 146,152,931 (GRCm39) |
S95T |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,866,090 (GRCm39) |
S287G |
possibly damaging |
Het |
| Samd4b |
A |
G |
7: 28,113,491 (GRCm39) |
F158S |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,182,012 (GRCm39) |
I571L |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,738,285 (GRCm39) |
T527A |
probably damaging |
Het |
| Smg9 |
T |
C |
7: 24,120,691 (GRCm39) |
|
probably null |
Het |
| Snx25 |
A |
G |
8: 46,558,197 (GRCm39) |
L270P |
probably damaging |
Het |
| Ssh1 |
G |
T |
5: 114,096,883 (GRCm39) |
T165N |
probably benign |
Het |
| Stk24 |
T |
A |
14: 121,540,218 (GRCm39) |
E127V |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,366,506 (GRCm39) |
|
probably benign |
Het |
| Tbcel |
A |
T |
9: 42,355,817 (GRCm39) |
L114Q |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,767 (GRCm39) |
D816G |
probably benign |
Het |
| Uhrf1 |
G |
A |
17: 56,625,250 (GRCm39) |
V566M |
probably damaging |
Het |
| Ulk4 |
T |
A |
9: 121,095,367 (GRCm39) |
E95D |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,201 (GRCm39) |
M6T |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,661,983 (GRCm39) |
V611I |
possibly damaging |
Het |
| Vwde |
G |
T |
6: 13,193,239 (GRCm39) |
H367N |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,723,553 (GRCm39) |
V585A |
probably benign |
Het |
|
| Other mutations in Suco |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-11-11 |
Incidental Mutation