Incidental Mutation 'R4193:Suco'
ID |
318384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Suco
|
Ensembl Gene |
ENSMUSG00000040297 |
Gene Name |
SUN domain containing ossification factor |
Synonyms |
AI848100, osteopotentia, Opt |
MMRRC Submission |
041024-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.557)
|
Stock # |
R4193 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 161691528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 43
(D43E)
|
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: D43E
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000044815 Gene: ENSMUSG00000040297 AA Change: D43E
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
Abcb1a |
G |
A |
5: 8,765,068 (GRCm39) |
|
probably null |
Het |
Acap3 |
A |
G |
4: 155,986,234 (GRCm39) |
T285A |
probably benign |
Het |
Adam20 |
A |
T |
8: 41,248,352 (GRCm39) |
N154I |
probably damaging |
Het |
Adamts8 |
A |
T |
9: 30,870,604 (GRCm39) |
D693V |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,211,941 (GRCm39) |
H226R |
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,720,085 (GRCm39) |
S7G |
probably benign |
Het |
Atxn7l3b |
C |
A |
10: 112,764,610 (GRCm39) |
L6F |
probably damaging |
Het |
Bco1 |
C |
T |
8: 117,840,208 (GRCm39) |
T242M |
probably damaging |
Het |
Btla |
A |
G |
16: 45,070,845 (GRCm39) |
N268S |
probably benign |
Het |
Capn9 |
A |
G |
8: 125,327,225 (GRCm39) |
S292G |
probably null |
Het |
Cdhr18 |
C |
T |
14: 13,914,416 (GRCm38) |
V9I |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,785,740 (GRCm39) |
S403N |
unknown |
Het |
Ctps1 |
A |
G |
4: 120,405,335 (GRCm39) |
V369A |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,486,493 (GRCm39) |
K3356R |
probably benign |
Het |
Dpf2 |
G |
A |
19: 5,957,044 (GRCm39) |
R60* |
probably null |
Het |
Eif3h |
A |
T |
15: 51,662,695 (GRCm39) |
V117E |
probably damaging |
Het |
Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
Fez1 |
T |
A |
9: 36,755,023 (GRCm39) |
S7R |
probably damaging |
Het |
Fh1 |
T |
A |
1: 175,442,407 (GRCm39) |
M148L |
possibly damaging |
Het |
Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
Gfm1 |
T |
G |
3: 67,339,053 (GRCm39) |
I52S |
probably damaging |
Het |
Gm6729 |
A |
T |
10: 86,376,483 (GRCm39) |
|
noncoding transcript |
Het |
Gpr152 |
T |
G |
19: 4,192,906 (GRCm39) |
L149R |
probably damaging |
Het |
H2bc27 |
T |
A |
11: 58,840,067 (GRCm39) |
L101Q |
probably damaging |
Het |
Ifnar2 |
A |
T |
16: 91,201,232 (GRCm39) |
D491V |
probably damaging |
Het |
Igkv14-126 |
T |
C |
6: 67,873,367 (GRCm39) |
S32P |
possibly damaging |
Het |
Il1rl2 |
A |
G |
1: 40,404,208 (GRCm39) |
E443G |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,088,774 (GRCm39) |
D1100G |
probably benign |
Het |
Itga2 |
G |
A |
13: 115,023,185 (GRCm39) |
R56* |
probably null |
Het |
Itga2b |
A |
G |
11: 102,360,511 (GRCm39) |
S10P |
probably benign |
Het |
Jmjd1c |
C |
T |
10: 66,932,460 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
G |
6: 39,146,030 (GRCm39) |
K299T |
probably damaging |
Het |
Large2 |
T |
A |
2: 92,195,704 (GRCm39) |
D632V |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,297,487 (GRCm39) |
C3158Y |
probably damaging |
Het |
Malt1 |
T |
A |
18: 65,580,746 (GRCm39) |
D213E |
probably benign |
Het |
Nkapl |
T |
C |
13: 21,651,512 (GRCm39) |
Q367R |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,964,808 (GRCm39) |
L1464P |
probably damaging |
Het |
Or1e25 |
C |
G |
11: 73,494,243 (GRCm39) |
T279R |
probably damaging |
Het |
Or2y1 |
A |
C |
11: 49,386,134 (GRCm39) |
Y258S |
probably damaging |
Het |
Or7a40 |
A |
T |
16: 16,491,511 (GRCm39) |
D111E |
possibly damaging |
Het |
Or8u10 |
T |
A |
2: 85,916,044 (GRCm39) |
I26F |
probably benign |
Het |
Or9g20 |
C |
T |
2: 85,630,362 (GRCm39) |
C84Y |
probably benign |
Het |
P2ry2 |
A |
G |
7: 100,647,657 (GRCm39) |
V216A |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,400,199 (GRCm39) |
K717E |
probably damaging |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
Phactr3 |
T |
A |
2: 177,924,945 (GRCm39) |
H293Q |
probably damaging |
Het |
Pias1 |
T |
C |
9: 62,859,286 (GRCm39) |
D74G |
possibly damaging |
Het |
Plekhg6 |
T |
C |
6: 125,350,081 (GRCm39) |
T286A |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,424,903 (GRCm39) |
L180Q |
probably damaging |
Het |
Prkag2 |
A |
C |
5: 25,083,758 (GRCm39) |
M75R |
probably damaging |
Het |
Prl7c1 |
T |
A |
13: 27,960,261 (GRCm39) |
M94L |
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,864,628 (GRCm39) |
I548V |
probably benign |
Het |
Ptprr |
T |
C |
10: 116,088,769 (GRCm39) |
W307R |
probably damaging |
Het |
Rab29 |
T |
C |
1: 131,797,700 (GRCm39) |
S52P |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,184,493 (GRCm39) |
F1505L |
probably damaging |
Het |
Scn8a |
C |
T |
15: 100,869,484 (GRCm39) |
A209V |
probably damaging |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,474,142 (GRCm39) |
|
probably null |
Het |
Slc17a5 |
C |
A |
9: 78,466,388 (GRCm39) |
V269L |
possibly damaging |
Het |
Slc2a9 |
T |
C |
5: 38,556,049 (GRCm39) |
N299S |
probably damaging |
Het |
Slc41a2 |
T |
A |
10: 83,137,085 (GRCm39) |
H274L |
probably damaging |
Het |
Tacr2 |
T |
A |
10: 62,088,958 (GRCm39) |
I121N |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,804,888 (GRCm39) |
|
probably benign |
Het |
Tbl1xr1 |
T |
C |
3: 22,254,522 (GRCm39) |
F322L |
possibly damaging |
Het |
Tdrd1 |
T |
A |
19: 56,839,773 (GRCm39) |
L611* |
probably null |
Het |
Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
Tmprss12 |
T |
C |
15: 100,187,185 (GRCm39) |
V217A |
probably damaging |
Het |
Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Vmn1r71 |
A |
T |
7: 10,482,175 (GRCm39) |
I105K |
possibly damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,077,663 (GRCm39) |
F168L |
probably benign |
Het |
Zfp945 |
C |
T |
17: 23,070,144 (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 |
|
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 |
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'- TCAGAATTACCTCTGCAGCCC -3'
(R):5'- GAATGATTATCAACTTCCCCTCCTACG -3'
Sequencing Primer
(F):5'- GAATTACCTCTGCAGCCCTCAAC -3'
(R):5'- CCTACGATACCAATACTCTAAAGTTG -3'
|
Posted On |
2015-06-10 |