Incidental Mutation 'R9380:Suco'
| ID |
709907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suco
|
| Ensembl Gene |
ENSMUSG00000040297 |
| Gene Name |
SUN domain containing ossification factor |
| Synonyms |
AI848100, osteopotentia, Opt |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R9380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 161646074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1209
(V1209A)
|
| 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: V1209A
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: V1209A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
G |
1: 78,659,602 (GRCm39) |
C85G |
possibly damaging |
Het |
| Alox12e |
A |
T |
11: 70,206,994 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
T |
C |
6: 48,910,064 (GRCm39) |
I667T |
probably damaging |
Het |
| Asb10 |
A |
C |
5: 24,739,103 (GRCm39) |
|
probably null |
Het |
| B3galt9 |
G |
A |
2: 34,729,029 (GRCm39) |
C276Y |
probably damaging |
Het |
| Bcl2a1d |
G |
A |
9: 88,613,935 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
A |
T |
8: 3,653,999 (GRCm39) |
K556N |
probably benign |
Het |
| Cd300lf |
T |
A |
11: 115,015,153 (GRCm39) |
T146S |
probably benign |
Het |
| Chuk |
C |
A |
19: 44,062,958 (GRCm39) |
A744S |
unknown |
Het |
| Clint1 |
A |
T |
11: 45,742,988 (GRCm39) |
M4L |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,029,865 (GRCm39) |
I344M |
possibly damaging |
Het |
| Cpne1 |
T |
C |
2: 155,920,721 (GRCm39) |
D135G |
probably benign |
Het |
| Csgalnact2 |
C |
A |
6: 118,105,840 (GRCm39) |
L159F |
probably damaging |
Het |
| Dnai2 |
T |
C |
11: 114,635,989 (GRCm39) |
F325L |
probably benign |
Het |
| Dnal4 |
G |
A |
15: 79,647,790 (GRCm39) |
S25L |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,500,245 (GRCm39) |
M515T |
unknown |
Het |
| Ewsr1 |
T |
C |
11: 5,043,730 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Fam25a |
T |
C |
14: 34,073,957 (GRCm39) |
T72A |
possibly damaging |
Het |
| Flii |
T |
C |
11: 60,606,297 (GRCm39) |
Y1131C |
probably benign |
Het |
| Foxj1 |
C |
T |
11: 116,222,547 (GRCm39) |
A419T |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,693,991 (GRCm39) |
T323A |
possibly damaging |
Het |
| Furin |
T |
C |
7: 80,041,506 (GRCm39) |
I551V |
probably benign |
Het |
| Gbp11 |
A |
G |
5: 105,475,202 (GRCm39) |
V382A |
probably benign |
Het |
| Gfod1 |
A |
C |
13: 43,354,320 (GRCm39) |
D218E |
probably damaging |
Het |
| Glp2r |
A |
T |
11: 67,637,572 (GRCm39) |
I153N |
possibly damaging |
Het |
| Gm11214 |
G |
T |
4: 63,580,850 (GRCm39) |
P100T |
possibly damaging |
Het |
| Gne |
A |
T |
4: 44,066,807 (GRCm39) |
F69I |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,619,453 (GRCm39) |
K164R |
probably damaging |
Het |
| Hspa1b |
T |
C |
17: 35,177,170 (GRCm39) |
R272G |
probably damaging |
Het |
| Hydin |
C |
A |
8: 111,290,504 (GRCm39) |
T3321N |
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,289,077 (GRCm39) |
S327T |
probably benign |
Het |
| Izumo2 |
T |
C |
7: 44,364,812 (GRCm39) |
V159A |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,678,926 (GRCm39) |
S430P |
probably damaging |
Het |
| Kcnj9 |
T |
A |
1: 172,153,447 (GRCm39) |
T226S |
probably benign |
Het |
| Kl |
T |
A |
5: 150,912,342 (GRCm39) |
M697K |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
G |
A |
7: 65,928,331 (GRCm39) |
P1266S |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,177,598 (GRCm39) |
N1499K |
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,333,668 (GRCm39) |
I182V |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,074,805 (GRCm39) |
L1859P |
|
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,454,904 (GRCm39) |
D52G |
possibly damaging |
Het |
| Or4a67 |
A |
T |
2: 88,598,530 (GRCm39) |
I43N |
probably damaging |
Het |
| Or4k1 |
C |
A |
14: 50,377,770 (GRCm39) |
G109W |
probably damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,415 (GRCm39) |
Y218C |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,108,980 (GRCm39) |
S421T |
probably damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,350 (GRCm39) |
N69S |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,056,351 (GRCm39) |
S1109T |
possibly damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,197,920 (GRCm39) |
G231D |
probably damaging |
Het |
| Pip5k1b |
A |
G |
19: 24,356,417 (GRCm39) |
Y174H |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,769,262 (GRCm39) |
L9Q |
unknown |
Het |
| Psmg4 |
A |
T |
13: 34,350,080 (GRCm39) |
T71S |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Qser1 |
G |
A |
2: 104,619,691 (GRCm39) |
Q284* |
probably null |
Het |
| Rcc2 |
G |
T |
4: 140,429,702 (GRCm39) |
A79S |
probably benign |
Het |
| Rgl3 |
G |
T |
9: 21,888,123 (GRCm39) |
Q464K |
probably damaging |
Het |
| Rhov |
C |
A |
2: 119,100,604 (GRCm39) |
R211L |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,266,475 (GRCm39) |
D687G |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,609,654 (GRCm39) |
I291V |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,238,625 (GRCm39) |
V189E |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,867 (GRCm39) |
I352T |
probably damaging |
Het |
| Sucla2 |
T |
A |
14: 73,828,312 (GRCm39) |
N306K |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,226,771 (GRCm39) |
L1152Q |
possibly damaging |
Het |
| Tanc1 |
A |
T |
2: 59,665,796 (GRCm39) |
K1185M |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,381 (GRCm39) |
F216L |
probably benign |
Het |
| Tead1 |
A |
T |
7: 112,441,105 (GRCm39) |
H78L |
possibly damaging |
Het |
| Tex12 |
T |
C |
9: 50,469,586 (GRCm39) |
I64V |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Trank1 |
A |
G |
9: 111,221,738 (GRCm39) |
E2825G |
probably benign |
Het |
| Trappc13 |
T |
A |
13: 104,280,707 (GRCm39) |
Y399F |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,212,992 (GRCm39) |
D102G |
probably damaging |
Het |
| Trim27 |
G |
T |
13: 21,364,680 (GRCm39) |
V6L |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,728,559 (GRCm39) |
T457A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,769,981 (GRCm39) |
E2716G |
probably benign |
Het |
| Usp10 |
T |
G |
8: 120,682,943 (GRCm39) |
L712R |
probably damaging |
Het |
| Vldlr |
T |
A |
19: 27,216,192 (GRCm39) |
C338S |
possibly damaging |
Het |
| Zfp946 |
A |
G |
17: 22,673,680 (GRCm39) |
I145V |
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 |
|
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 |
|
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'- ACCACAGGCTGTTCTTCAAAG -3'
(R):5'- AAGCCCTTTACGAACCAGAGAG -3'
Sequencing Primer
(F):5'- CTGTAACCCCAAATGCTC -3'
(R):5'- CCCTTTACGAACCAGAGAGATTTTTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation