Incidental Mutation 'R0634:Suco'
ID |
58122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Suco
|
Ensembl Gene |
ENSMUSG00000040297 |
Gene Name |
SUN domain containing ossification factor |
Synonyms |
AI848100, osteopotentia, Opt |
MMRRC Submission |
038823-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R0634 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 161666373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 509
(V509A)
|
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: V509A
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044815 Gene: ENSMUSG00000040297 AA Change: V509A
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: ENSMUST00000194106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194388
|
Meta Mutation Damage Score |
0.1072 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
Validation Efficiency |
98% (62/63) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,264,491 (GRCm39) |
I2958V |
possibly damaging |
Het |
Adam21 |
C |
A |
12: 81,607,126 (GRCm39) |
W212L |
probably benign |
Het |
Adcy2 |
A |
C |
13: 68,876,064 (GRCm39) |
H479Q |
possibly damaging |
Het |
Adcy4 |
T |
C |
14: 56,019,054 (GRCm39) |
R168G |
probably benign |
Het |
Adrm1b |
C |
T |
3: 92,336,116 (GRCm39) |
W125* |
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,734,240 (GRCm39) |
|
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,464 (GRCm39) |
E304K |
possibly damaging |
Het |
Cc2d2a |
A |
C |
5: 43,838,723 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
C |
3: 134,952,588 (GRCm39) |
L1426P |
probably damaging |
Het |
Cntn1 |
A |
T |
15: 92,212,444 (GRCm39) |
R869* |
probably null |
Het |
Creb3l2 |
A |
T |
6: 37,311,283 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
G |
A |
4: 133,802,615 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,276,405 (GRCm39) |
F800I |
probably damaging |
Het |
Dock6 |
G |
A |
9: 21,752,823 (GRCm39) |
T330I |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,517,200 (GRCm39) |
E311K |
possibly damaging |
Het |
Fbxo22 |
A |
T |
9: 55,122,244 (GRCm39) |
Q141L |
probably benign |
Het |
Fer |
C |
T |
17: 64,342,503 (GRCm39) |
T223M |
probably benign |
Het |
Gtf3c1 |
A |
T |
7: 125,256,649 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
G |
A |
5: 31,317,150 (GRCm39) |
R684* |
probably null |
Het |
Hs6st3 |
T |
A |
14: 120,106,474 (GRCm39) |
L294* |
probably null |
Het |
Ighg2c |
T |
G |
12: 113,251,584 (GRCm39) |
E181A |
unknown |
Het |
Igkv6-15 |
A |
T |
6: 70,383,763 (GRCm39) |
|
probably benign |
Het |
Irag2 |
A |
T |
6: 145,120,354 (GRCm39) |
H523L |
probably damaging |
Het |
Map2k6 |
C |
T |
11: 110,385,169 (GRCm39) |
R178* |
probably null |
Het |
Meikin |
T |
A |
11: 54,281,309 (GRCm39) |
D126E |
probably benign |
Het |
Mgst1 |
A |
T |
6: 138,133,329 (GRCm39) |
T37S |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,238,518 (GRCm39) |
V1222M |
probably benign |
Het |
Myom2 |
C |
A |
8: 15,169,216 (GRCm39) |
|
probably benign |
Het |
Negr1 |
A |
G |
3: 156,721,903 (GRCm39) |
K159R |
possibly damaging |
Het |
Nptx1 |
T |
C |
11: 119,434,127 (GRCm39) |
T320A |
possibly damaging |
Het |
Or12j3 |
A |
T |
7: 139,953,310 (GRCm39) |
V71E |
possibly damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,961 (GRCm39) |
M107K |
probably benign |
Het |
Or5p66 |
T |
C |
7: 107,885,503 (GRCm39) |
I277V |
probably benign |
Het |
Pes1 |
C |
T |
11: 3,927,794 (GRCm39) |
|
probably benign |
Het |
Pes1 |
T |
G |
11: 3,927,795 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,187,698 (GRCm39) |
Y3537N |
probably damaging |
Het |
Poteg |
G |
A |
8: 27,963,615 (GRCm39) |
G289R |
probably benign |
Het |
Pramel29 |
A |
G |
4: 143,935,910 (GRCm39) |
|
probably null |
Het |
Rassf5 |
T |
C |
1: 131,172,693 (GRCm39) |
R59G |
probably damaging |
Het |
Reln |
A |
T |
5: 22,223,867 (GRCm39) |
W961R |
probably damaging |
Het |
Rhot2 |
G |
A |
17: 26,061,002 (GRCm39) |
H168Y |
possibly damaging |
Het |
Ripk3 |
G |
T |
14: 56,025,848 (GRCm39) |
|
probably benign |
Het |
Samm50 |
A |
G |
15: 84,098,372 (GRCm39) |
|
silent |
Het |
Sap30bp |
T |
C |
11: 115,848,229 (GRCm39) |
I117T |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Sipa1l2 |
A |
T |
8: 126,149,363 (GRCm39) |
L1632* |
probably null |
Het |
Sirt7 |
T |
C |
11: 120,512,955 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,976,934 (GRCm39) |
T216A |
possibly damaging |
Het |
Sox9 |
A |
G |
11: 112,675,768 (GRCm39) |
Y319C |
probably damaging |
Het |
Sspn |
G |
A |
6: 145,906,877 (GRCm39) |
A27T |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,070,661 (GRCm39) |
C2375Y |
possibly damaging |
Het |
Trbv21 |
T |
A |
6: 41,179,984 (GRCm39) |
|
probably benign |
Het |
Uimc1 |
C |
T |
13: 55,208,079 (GRCm39) |
E455K |
possibly damaging |
Het |
Upk3b |
A |
G |
5: 136,068,930 (GRCm39) |
T100A |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,707,862 (GRCm39) |
N1303D |
probably damaging |
Het |
Vav1 |
A |
T |
17: 57,610,862 (GRCm39) |
D476V |
probably benign |
Het |
Vmn1r68 |
A |
G |
7: 10,261,162 (GRCm39) |
V312A |
probably benign |
Het |
Wdr62 |
A |
G |
7: 29,969,599 (GRCm39) |
V287A |
probably damaging |
Het |
Zcchc4 |
C |
T |
5: 52,940,550 (GRCm39) |
P40S |
probably benign |
Het |
Zfp326 |
T |
A |
5: 106,034,069 (GRCm39) |
Y26* |
probably null |
Het |
Zfp592 |
A |
G |
7: 80,687,819 (GRCm39) |
H915R |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATTCTACCAGGGCAGAAGAGGC -3'
(R):5'- GTCCTCCATATTCCAGTCCAGGCTA -3'
Sequencing Primer
(F):5'- CAAGATGGCTAAGTTCTTTCCAATGG -3'
(R):5'- CCCTCTGAACCTTAAAATTTCAGC -3'
|
Posted On |
2013-07-11 |