Incidental Mutation 'R9044:Gse1'
| ID |
687925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
068871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R9044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120957269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 587
(S587T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127664]
[ENSMUST00000180448]
|
| AlphaFold |
Q3U3C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000180448
AA Change: S587T
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,902,314 (GRCm39) |
Y667* |
probably null |
Het |
| Acacb |
A |
G |
5: 114,373,578 (GRCm39) |
H1869R |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,441,748 (GRCm39) |
T950A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,735 (GRCm39) |
L3110Q |
probably damaging |
Het |
| Ambra1 |
A |
T |
2: 91,740,434 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
A |
T |
17: 29,025,871 (GRCm39) |
N315Y |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,738,261 (GRCm39) |
D142G |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cyba |
T |
A |
8: 123,151,630 (GRCm39) |
D189V |
probably benign |
Het |
| Dexi |
A |
G |
16: 10,321,385 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,420,247 (GRCm39) |
V156I |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,077 (GRCm39) |
V420A |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,479,584 (GRCm39) |
V167E |
probably damaging |
Het |
| Eid2 |
T |
C |
7: 27,968,038 (GRCm39) |
I220T |
possibly damaging |
Het |
| Fggy |
A |
C |
4: 95,732,334 (GRCm39) |
T442P |
probably benign |
Het |
| Foxi3 |
T |
G |
6: 70,933,683 (GRCm39) |
S57A |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,186 (GRCm39) |
|
probably null |
Het |
| Galntl5 |
C |
T |
5: 25,415,326 (GRCm39) |
P286S |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,938,274 (GRCm39) |
K519E |
probably benign |
Het |
| Kcns1 |
G |
T |
2: 164,009,996 (GRCm39) |
F254L |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,840,781 (GRCm39) |
T23A |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,541,577 (GRCm39) |
Q1241R |
possibly damaging |
Het |
| Lck |
A |
T |
4: 129,450,098 (GRCm39) |
L205Q |
probably damaging |
Het |
| Map9 |
C |
T |
3: 82,287,525 (GRCm39) |
A420V |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,530,960 (GRCm39) |
D170E |
|
Het |
| Mllt6 |
T |
A |
11: 97,554,485 (GRCm39) |
C30S |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,411,795 (GRCm39) |
D1580E |
unknown |
Het |
| Oaf |
C |
T |
9: 43,135,308 (GRCm39) |
A157T |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,902,485 (GRCm39) |
|
probably benign |
Het |
| Or2ab1 |
T |
A |
11: 58,489,126 (GRCm39) |
N295K |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,128 (GRCm39) |
I8V |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,247 (GRCm39) |
Y641C |
probably damaging |
Het |
| Phf10 |
A |
T |
17: 15,166,584 (GRCm39) |
C429S |
probably damaging |
Het |
| Plekha6 |
C |
G |
1: 133,201,687 (GRCm39) |
P367A |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,201,688 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Plod2 |
T |
A |
9: 92,489,273 (GRCm39) |
I756K |
probably damaging |
Het |
| Plxnb2 |
C |
A |
15: 89,044,566 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,530,554 (GRCm39) |
M1014K |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,171,540 (GRCm39) |
D304G |
probably benign |
Het |
| Rcan2 |
C |
A |
17: 44,147,245 (GRCm39) |
L28I |
probably benign |
Het |
| Rffl |
C |
T |
11: 82,701,020 (GRCm39) |
V269I |
probably benign |
Het |
| Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
C |
T |
19: 29,577,294 (GRCm39) |
A1066V |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,752,989 (GRCm39) |
Y1777* |
probably null |
Het |
| Scart2 |
G |
T |
7: 139,828,010 (GRCm39) |
G73C |
probably damaging |
Het |
| Sh3tc1 |
T |
G |
5: 35,854,834 (GRCm39) |
K1288Q |
possibly damaging |
Het |
| Slc10a5 |
A |
C |
3: 10,399,792 (GRCm39) |
I289M |
probably damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,110,797 (GRCm39) |
T128A |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,333,632 (GRCm39) |
H373R |
probably benign |
Het |
| Spesp1 |
A |
G |
9: 62,180,623 (GRCm39) |
I95T |
probably benign |
Het |
| Sra1 |
C |
T |
18: 36,800,946 (GRCm39) |
V131I |
probably benign |
Het |
| Stxbp5l |
A |
G |
16: 37,024,930 (GRCm39) |
V556A |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 177,989,617 (GRCm39) |
E1414G |
probably damaging |
Het |
| Trac |
A |
T |
14: 54,458,148 (GRCm39) |
K57* |
probably null |
Het |
| Trps1 |
T |
C |
15: 50,686,003 (GRCm39) |
E724G |
probably benign |
Het |
| Tubgcp6 |
T |
G |
15: 88,987,397 (GRCm39) |
D1192A |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vps18 |
T |
G |
2: 119,128,034 (GRCm39) |
I952M |
probably damaging |
Het |
| Wdr36 |
T |
C |
18: 32,970,499 (GRCm39) |
F20S |
probably damaging |
Het |
| Wdr62 |
C |
A |
7: 29,962,062 (GRCm39) |
R450L |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,668,641 (GRCm39) |
K76E |
probably benign |
Het |
| Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
probably damaging |
Het |
|
| Other mutations in Gse1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Gse1
|
APN |
8 |
121,280,326 (GRCm39) |
start codon destroyed |
probably null |
0.79 |
|
IGL02484:Gse1
|
APN |
8 |
121,302,001 (GRCm39) |
intron |
probably benign |
|
|
IGL02931:Gse1
|
APN |
8 |
121,304,808 (GRCm39) |
intron |
probably benign |
|
|
IGL03193:Gse1
|
APN |
8 |
121,298,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0027:Gse1
|
UTSW |
8 |
121,293,285 (GRCm39) |
intron |
probably benign |
|
|
R0109:Gse1
|
UTSW |
8 |
121,294,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Gse1
|
UTSW |
8 |
121,299,073 (GRCm39) |
intron |
probably benign |
|
|
R0967:Gse1
|
UTSW |
8 |
121,297,594 (GRCm39) |
intron |
probably benign |
|
|
R1395:Gse1
|
UTSW |
8 |
121,301,738 (GRCm39) |
intron |
probably benign |
|
|
R1480:Gse1
|
UTSW |
8 |
121,299,133 (GRCm39) |
intron |
probably benign |
|
|
R1532:Gse1
|
UTSW |
8 |
121,294,949 (GRCm39) |
intron |
probably benign |
|
|
R1649:Gse1
|
UTSW |
8 |
121,305,254 (GRCm39) |
intron |
probably benign |
|
|
R1728:Gse1
|
UTSW |
8 |
121,294,992 (GRCm39) |
intron |
probably benign |
|
|
R1742:Gse1
|
UTSW |
8 |
121,293,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Gse1
|
UTSW |
8 |
121,294,992 (GRCm39) |
intron |
probably benign |
|
|
R2081:Gse1
|
UTSW |
8 |
121,293,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Gse1
|
UTSW |
8 |
121,293,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2974:Gse1
|
UTSW |
8 |
121,297,636 (GRCm39) |
intron |
probably benign |
|
|
R3615:Gse1
|
UTSW |
8 |
121,299,481 (GRCm39) |
intron |
probably benign |
|
|
R3616:Gse1
|
UTSW |
8 |
121,299,481 (GRCm39) |
intron |
probably benign |
|
|
R3857:Gse1
|
UTSW |
8 |
121,297,872 (GRCm39) |
intron |
probably benign |
|
|
R4201:Gse1
|
UTSW |
8 |
121,294,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4494:Gse1
|
UTSW |
8 |
121,297,553 (GRCm39) |
intron |
probably benign |
|
|
R4857:Gse1
|
UTSW |
8 |
121,299,496 (GRCm39) |
intron |
probably benign |
|
|
R4911:Gse1
|
UTSW |
8 |
121,295,205 (GRCm39) |
intron |
probably benign |
|
|
R5640:Gse1
|
UTSW |
8 |
121,289,416 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5782:Gse1
|
UTSW |
8 |
121,293,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Gse1
|
UTSW |
8 |
120,956,376 (GRCm39) |
intron |
probably benign |
|
|
R6090:Gse1
|
UTSW |
8 |
121,297,908 (GRCm39) |
intron |
probably benign |
|
|
R6156:Gse1
|
UTSW |
8 |
121,215,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6191:Gse1
|
UTSW |
8 |
121,280,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6270:Gse1
|
UTSW |
8 |
121,295,902 (GRCm39) |
intron |
probably benign |
|
|
R6502:Gse1
|
UTSW |
8 |
121,280,428 (GRCm39) |
splice site |
probably null |
|
|
R6573:Gse1
|
UTSW |
8 |
121,294,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Gse1
|
UTSW |
8 |
120,956,221 (GRCm39) |
intron |
probably benign |
|
|
R6901:Gse1
|
UTSW |
8 |
120,956,561 (GRCm39) |
intron |
probably benign |
|
|
R6959:Gse1
|
UTSW |
8 |
121,297,710 (GRCm39) |
intron |
probably benign |
|
|
R7023:Gse1
|
UTSW |
8 |
120,957,387 (GRCm39) |
intron |
probably benign |
|
|
R7210:Gse1
|
UTSW |
8 |
120,957,441 (GRCm39) |
missense |
unknown |
|
|
R7263:Gse1
|
UTSW |
8 |
121,300,910 (GRCm39) |
missense |
unknown |
|
|
R7449:Gse1
|
UTSW |
8 |
120,956,450 (GRCm39) |
missense |
unknown |
|
|
R7602:Gse1
|
UTSW |
8 |
121,296,043 (GRCm39) |
missense |
unknown |
|
|
R7627:Gse1
|
UTSW |
8 |
121,299,516 (GRCm39) |
missense |
unknown |
|
|
R7635:Gse1
|
UTSW |
8 |
121,299,634 (GRCm39) |
missense |
unknown |
|
|
R7689:Gse1
|
UTSW |
8 |
121,295,217 (GRCm39) |
missense |
unknown |
|
|
R8108:Gse1
|
UTSW |
8 |
120,956,549 (GRCm39) |
missense |
unknown |
|
|
R8326:Gse1
|
UTSW |
8 |
121,305,319 (GRCm39) |
missense |
unknown |
|
|
R8474:Gse1
|
UTSW |
8 |
121,295,123 (GRCm39) |
intron |
probably benign |
|
|
R8544:Gse1
|
UTSW |
8 |
121,280,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Gse1
|
UTSW |
8 |
121,303,117 (GRCm39) |
missense |
unknown |
|
|
R8817:Gse1
|
UTSW |
8 |
121,294,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Gse1
|
UTSW |
8 |
121,297,470 (GRCm39) |
missense |
unknown |
|
|
R8896:Gse1
|
UTSW |
8 |
121,303,185 (GRCm39) |
missense |
unknown |
|
|
R9130:Gse1
|
UTSW |
8 |
121,295,052 (GRCm39) |
missense |
unknown |
|
|
R9185:Gse1
|
UTSW |
8 |
121,294,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9398:Gse1
|
UTSW |
8 |
121,303,074 (GRCm39) |
missense |
unknown |
|
|
R9430:Gse1
|
UTSW |
8 |
121,299,049 (GRCm39) |
missense |
unknown |
|
|
R9471:Gse1
|
UTSW |
8 |
121,301,845 (GRCm39) |
missense |
unknown |
|
|
R9696:Gse1
|
UTSW |
8 |
120,956,280 (GRCm39) |
missense |
unknown |
|
|
R9797:Gse1
|
UTSW |
8 |
121,215,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Gse1
|
UTSW |
8 |
121,294,902 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Gse1
|
UTSW |
8 |
120,956,591 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCAACTCAGCATGAACC -3'
(R):5'- TGCTCCAGGAGATGAAAGCC -3'
Sequencing Primer
(F):5'- AGGCCTGCAGACTCCAC -3'
(R):5'- GAGATGAAAGCCACTACTTACCTTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation