Incidental Mutation 'R0418:Suco'
ID |
36848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Suco
|
Ensembl Gene |
ENSMUSG00000040297 |
Gene Name |
SUN domain containing ossification factor |
Synonyms |
AI848100, osteopotentia, Opt |
MMRRC Submission |
038620-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R0418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 161662419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 671
(V671I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048377]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048377
AA Change: V671I
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000044815 Gene: ENSMUSG00000040297 AA Change: V671I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
Validation Efficiency |
98% (64/65) |
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 |
A930018P22Rik |
G |
T |
2: 103,953,675 (GRCm39) |
|
probably null |
Het |
Abca14 |
T |
C |
7: 119,806,657 (GRCm39) |
L19P |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,763,281 (GRCm39) |
V603E |
probably damaging |
Het |
Acsl5 |
A |
G |
19: 55,261,238 (GRCm39) |
D65G |
probably benign |
Het |
Acss3 |
T |
C |
10: 106,859,773 (GRCm39) |
Y311C |
probably damaging |
Het |
Ak8 |
T |
G |
2: 28,623,868 (GRCm39) |
I151S |
possibly damaging |
Het |
Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,546,875 (GRCm39) |
R393G |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,767,353 (GRCm39) |
L1164Q |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atf5 |
A |
G |
7: 44,462,821 (GRCm39) |
M101T |
possibly damaging |
Het |
Det1 |
T |
C |
7: 78,493,765 (GRCm39) |
T80A |
probably benign |
Het |
Dpp9 |
C |
T |
17: 56,501,404 (GRCm39) |
|
probably benign |
Het |
Fam13c |
A |
G |
10: 70,370,591 (GRCm39) |
R244G |
probably damaging |
Het |
Fat3 |
A |
T |
9: 16,158,192 (GRCm39) |
N1139K |
probably damaging |
Het |
Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
Fli1 |
T |
C |
9: 32,363,425 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
G |
9: 26,705,397 (GRCm39) |
D151A |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,768,220 (GRCm39) |
T669I |
possibly damaging |
Het |
Igsf3 |
C |
A |
3: 101,342,751 (GRCm39) |
R463S |
probably damaging |
Het |
Il1rl2 |
T |
C |
1: 40,365,662 (GRCm39) |
V3A |
unknown |
Het |
Irx3 |
G |
A |
8: 92,526,708 (GRCm39) |
S332F |
probably benign |
Het |
Katnb1 |
C |
T |
8: 95,822,286 (GRCm39) |
T303M |
possibly damaging |
Het |
Lrrc31 |
A |
T |
3: 30,743,383 (GRCm39) |
L194Q |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,394,264 (GRCm39) |
E387A |
probably benign |
Het |
Mapk14 |
T |
C |
17: 28,910,763 (GRCm39) |
I17T |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,483,401 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
G |
8: 10,619,918 (GRCm39) |
T1490A |
probably benign |
Het |
Nfasc |
A |
G |
1: 132,539,333 (GRCm39) |
V399A |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,117,477 (GRCm39) |
S396P |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,284,169 (GRCm39) |
K1E |
probably null |
Het |
Nr2c1 |
A |
T |
10: 94,017,374 (GRCm39) |
M371L |
probably benign |
Het |
Oplah |
C |
T |
15: 76,182,687 (GRCm39) |
R924H |
probably benign |
Het |
Or10ak16 |
C |
T |
4: 118,750,448 (GRCm39) |
T56I |
possibly damaging |
Het |
Or51a10 |
G |
A |
7: 103,698,979 (GRCm39) |
T194I |
probably benign |
Het |
Pappa2 |
C |
A |
1: 158,544,560 (GRCm39) |
C1756F |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,289,361 (GRCm39) |
R680C |
probably damaging |
Het |
Rassf3 |
G |
A |
10: 121,253,075 (GRCm39) |
T44M |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,377,693 (GRCm39) |
|
probably null |
Het |
Rnf126 |
C |
T |
10: 79,598,477 (GRCm39) |
|
probably benign |
Het |
Rnf144b |
T |
C |
13: 47,397,966 (GRCm39) |
S299P |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,848,981 (GRCm39) |
|
probably benign |
Het |
Scel |
T |
A |
14: 103,840,690 (GRCm39) |
S511T |
probably benign |
Het |
Slc16a10 |
G |
T |
10: 39,916,627 (GRCm39) |
S138* |
probably null |
Het |
Slc36a4 |
A |
T |
9: 15,645,562 (GRCm39) |
I330F |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,722,420 (GRCm39) |
I84M |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,982,579 (GRCm39) |
|
probably benign |
Het |
Suox |
G |
A |
10: 128,506,754 (GRCm39) |
P425S |
probably damaging |
Het |
Tmem266 |
T |
A |
9: 55,344,697 (GRCm39) |
V443E |
probably benign |
Het |
Tmprss11f |
A |
T |
5: 86,704,870 (GRCm39) |
I16N |
probably benign |
Het |
Tnik |
T |
A |
3: 28,625,029 (GRCm39) |
Y321* |
probably null |
Het |
Tnrc6b |
T |
C |
15: 80,797,524 (GRCm39) |
M1357T |
probably benign |
Het |
Tpbg |
C |
A |
9: 85,726,803 (GRCm39) |
Y257* |
probably null |
Het |
Usp37 |
A |
T |
1: 74,529,266 (GRCm39) |
S138T |
probably benign |
Het |
Veph1 |
T |
A |
3: 66,162,449 (GRCm39) |
R70* |
probably null |
Het |
Vmn2r17 |
C |
T |
5: 109,600,747 (GRCm39) |
P682S |
probably damaging |
Het |
Vmn2r79 |
A |
C |
7: 86,651,611 (GRCm39) |
N337H |
probably benign |
Het |
Vstm2b |
A |
G |
7: 40,551,876 (GRCm39) |
D68G |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,236,933 (GRCm39) |
A167S |
possibly damaging |
Het |
Zfp647 |
A |
T |
15: 76,795,586 (GRCm39) |
I358N |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAGCAGAACTAAAGCTCTCGGTC -3'
(R):5'- CCCTTTTGGGCAGTGGTGAACAAG -3'
Sequencing Primer
(F):5'- AACAGAACTCTCTTGGGTCATC -3'
(R):5'- AGTCGTCATCCTGGTTTGAG -3'
|
Posted On |
2013-05-09 |