Incidental Mutation 'R9411:Suco'
| ID |
711786 |
| 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 # |
R9411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
161643683-161704251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 161666356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 515
(I515F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048377]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048377
AA Change: I515F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044815
Gene: ENSMUSG00000040297
AA Change: I515F
| 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: 99.6%
- 20x: 98.8%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
G |
A |
13: 91,919,919 (GRCm39) |
A285T |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atg7 |
T |
A |
6: 114,690,289 (GRCm39) |
M650K |
probably benign |
Het |
| B020011L13Rik |
G |
A |
1: 117,729,246 (GRCm39) |
G251E |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,564,018 (GRCm39) |
V215A |
probably benign |
Het |
| Bmal1 |
C |
A |
7: 112,907,837 (GRCm39) |
S513* |
probably null |
Het |
| C2cd3 |
T |
C |
7: 100,065,704 (GRCm39) |
V452A |
|
Het |
| Cd55 |
G |
A |
1: 130,368,114 (GRCm39) |
H370Y |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,547,487 (GRCm39) |
V662A |
unknown |
Het |
| Crocc |
A |
G |
4: 140,749,577 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
A |
13: 113,504,767 (GRCm39) |
N1965K |
|
Het |
| Dnah1 |
C |
T |
14: 31,018,256 (GRCm39) |
V1421M |
probably damaging |
Het |
| Eid3 |
T |
G |
10: 82,703,652 (GRCm39) |
I371S |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,293,148 (GRCm39) |
Y510C |
probably damaging |
Het |
| Garem1 |
C |
T |
18: 21,369,057 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
C |
T |
5: 115,733,098 (GRCm39) |
T1045M |
possibly damaging |
Het |
| Ggt6 |
T |
A |
11: 72,326,560 (GRCm39) |
L39H |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,767,610 (GRCm39) |
|
probably null |
Het |
| Gpr171 |
T |
A |
3: 59,005,311 (GRCm39) |
K155* |
probably null |
Het |
| Has2 |
T |
A |
15: 56,531,306 (GRCm39) |
T470S |
possibly damaging |
Het |
| Ighv1-34 |
C |
T |
12: 114,815,070 (GRCm39) |
V31M |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,412,835 (GRCm39) |
N50K |
probably damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,829,692 (GRCm39) |
V30M |
probably damaging |
Het |
| Msra |
A |
G |
14: 64,471,331 (GRCm39) |
I126T |
probably benign |
Het |
| Nkd2 |
G |
A |
13: 73,969,330 (GRCm39) |
L379F |
probably benign |
Het |
| Nr2f2 |
A |
C |
7: 70,007,525 (GRCm39) |
V319G |
|
Het |
| Ntng2 |
A |
T |
2: 29,138,048 (GRCm39) |
L2Q |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,258,896 (GRCm39) |
E523G |
probably damaging |
Het |
| Pllp |
C |
T |
8: 95,402,868 (GRCm39) |
A158T |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,159,682 (GRCm39) |
S1431P |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,676,215 (GRCm39) |
F296L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,089,997 (GRCm39) |
I346V |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,029,200 (GRCm39) |
D951G |
unknown |
Het |
| Retn |
G |
A |
8: 3,707,378 (GRCm39) |
A113T |
probably benign |
Het |
| Rexo1 |
G |
T |
10: 80,397,248 (GRCm39) |
R3S |
|
Het |
| Rras |
T |
A |
7: 44,669,979 (GRCm39) |
I137N |
possibly damaging |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Sntb2 |
A |
G |
8: 107,737,931 (GRCm39) |
D493G |
probably damaging |
Het |
| Socs5 |
T |
C |
17: 87,442,521 (GRCm39) |
I487T |
possibly damaging |
Het |
| Spryd3 |
A |
G |
15: 102,027,843 (GRCm39) |
Y235H |
probably damaging |
Het |
| Syn2 |
T |
C |
6: 115,231,152 (GRCm39) |
V269A |
possibly damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,304,501 (GRCm39) |
L186P |
probably damaging |
Het |
| Tmem234 |
T |
C |
4: 129,495,988 (GRCm39) |
Y57H |
probably damaging |
Het |
| Tnik |
C |
A |
3: 28,684,754 (GRCm39) |
P861T |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 73,992,662 (GRCm39) |
L45P |
probably damaging |
Het |
| Veph1 |
T |
A |
3: 65,995,238 (GRCm39) |
D671V |
possibly damaging |
Het |
| Vwc2l |
A |
T |
1: 70,767,980 (GRCm39) |
I15F |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,343,288 (GRCm39) |
N556Y |
probably damaging |
Het |
| Zfp202 |
T |
A |
9: 40,118,878 (GRCm39) |
V97D |
probably damaging |
Het |
| Zfp800 |
T |
C |
6: 28,243,430 (GRCm39) |
I512V |
possibly damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,084,405 (GRCm39) |
D573G |
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 |
|
|
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 |
|
R9542:Suco
|
UTSW |
1 |
161,661,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGATGGCTAAGTTCTTTCCAATGG -3'
(R):5'- TCCCTCTGAACCTTAAAATTTCAGC -3'
Sequencing Primer
(F):5'- TCCAATGGTCTCTTCATTTCTAAATG -3'
(R):5'- CCTTAAAATTTCAGCTTACTTTGGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation