Incidental Mutation 'IGL02028:Suco'
| ID |
184263 |
| 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: 0.559)
|
| Stock # |
IGL02028
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 161684428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 231
(K231E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048377]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048377
AA Change: K231E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: K231E
| 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 |
unknown
Transcript: ENSMUST00000191975
AA Change: K74E
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,473,442 (GRCm39) |
Y53C |
probably damaging |
Het |
| Acacb |
T |
A |
5: 114,304,076 (GRCm39) |
D166E |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip5 |
A |
G |
6: 97,206,611 (GRCm39) |
Y97C |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,024,936 (GRCm39) |
S1772R |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,645 (GRCm39) |
Q155R |
probably damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,983,861 (GRCm39) |
N446S |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,783,477 (GRCm39) |
D84G |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,836,387 (GRCm39) |
K918E |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,750,122 (GRCm39) |
D521G |
probably damaging |
Het |
| Dync2i1 |
C |
A |
12: 116,219,681 (GRCm39) |
R87L |
probably benign |
Het |
| Etv6 |
C |
T |
6: 134,225,696 (GRCm39) |
A309V |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Figla |
T |
C |
6: 85,994,345 (GRCm39) |
L40P |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,790,939 (GRCm39) |
Q301L |
probably damaging |
Het |
| Glt1d1 |
G |
A |
5: 127,783,984 (GRCm39) |
V313M |
possibly damaging |
Het |
| Gm28778 |
T |
A |
1: 53,357,120 (GRCm39) |
I94K |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,469,765 (GRCm39) |
K103E |
probably benign |
Het |
| Gne |
A |
G |
4: 44,066,852 (GRCm39) |
S23P |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,691 (GRCm39) |
C186R |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,464 (GRCm39) |
V283I |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 5,013,511 (GRCm39) |
D40E |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,387 (GRCm39) |
I462F |
possibly damaging |
Het |
| Myh1 |
T |
A |
11: 67,101,441 (GRCm39) |
I711N |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,274,477 (GRCm39) |
F108L |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,313,816 (GRCm39) |
F14L |
probably benign |
Het |
| Or8b49 |
T |
A |
9: 38,505,715 (GRCm39) |
L66* |
probably null |
Het |
| Polr1g |
T |
C |
7: 19,091,003 (GRCm39) |
K368R |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,258,301 (GRCm39) |
D172G |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,027,536 (GRCm39) |
D339G |
possibly damaging |
Het |
| Rras2 |
C |
A |
7: 113,659,597 (GRCm39) |
V56L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,594,002 (GRCm39) |
E1617G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,118,030 (GRCm39) |
M236L |
probably benign |
Het |
| Snrnp27 |
C |
T |
6: 86,659,955 (GRCm39) |
R13H |
unknown |
Het |
| Srgap2 |
T |
C |
1: 131,224,173 (GRCm39) |
K92E |
probably damaging |
Het |
| Tll2 |
C |
A |
19: 41,087,088 (GRCm39) |
E588* |
probably null |
Het |
| Tmem215 |
A |
T |
4: 40,473,940 (GRCm39) |
I6L |
possibly damaging |
Het |
| Tnc |
A |
C |
4: 63,884,909 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
G |
A |
11: 94,105,052 (GRCm39) |
G196D |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,849 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Uck1 |
G |
T |
2: 32,148,149 (GRCm39) |
Q192K |
probably damaging |
Het |
| Vdac3-ps1 |
A |
G |
13: 18,205,469 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r88 |
C |
T |
7: 12,911,719 (GRCm39) |
S25L |
probably benign |
Het |
| Vmn2r109 |
T |
G |
17: 20,761,342 (GRCm39) |
I672L |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,819 (GRCm39) |
F724S |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,366,088 (GRCm39) |
F282Y |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,057 (GRCm39) |
I347F |
probably benign |
Het |
| Wasf2 |
G |
A |
4: 132,923,112 (GRCm39) |
R474H |
probably damaging |
Het |
| Zmym5 |
T |
C |
14: 57,041,617 (GRCm39) |
H162R |
possibly 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 |
|
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 |
2014-05-07 |
Incidental Mutation