Incidental Mutation 'R6959:Gse1'
| ID |
541654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
045069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R6959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 121297710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
|
| AlphaFold |
Q3U3C9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034279
AA Change: E641G
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: E641G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
Pfam:DUF3736
|
81 |
216 |
2.9e-21 |
PFAM |
|
coiled coil region
|
329 |
414 |
N/A |
INTRINSIC |
|
Pfam:DUF3736
|
742 |
883 |
9.7e-46 |
PFAM |
|
low complexity region
|
959 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1124 |
N/A |
INTRINSIC |
|
coiled coil region
|
1133 |
1207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000118136
AA Change: E631G
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: E631G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
63 |
N/A |
INTRINSIC |
|
Pfam:DUF3736
|
70 |
203 |
2.2e-39 |
PFAM |
|
low complexity region
|
204 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
319 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF3736
|
731 |
874 |
7.5e-48 |
PFAM |
|
low complexity region
|
949 |
963 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1114 |
N/A |
INTRINSIC |
|
coiled coil region
|
1123 |
1197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000120493
AA Change: E628G
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: E628G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF3736
|
67 |
200 |
2.2e-39 |
PFAM |
|
low complexity region
|
201 |
208 |
N/A |
INTRINSIC |
|
coiled coil region
|
316 |
401 |
N/A |
INTRINSIC |
|
Pfam:DUF3736
|
728 |
871 |
7.5e-48 |
PFAM |
|
low complexity region
|
946 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1090 |
1111 |
N/A |
INTRINSIC |
|
coiled coil region
|
1120 |
1194 |
N/A |
INTRINSIC |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
| Validation Efficiency |
94% (61/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
G |
A |
11: 70,507,485 (GRCm39) |
G177R |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,927,249 (GRCm39) |
T292A |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,870,467 (GRCm39) |
D173E |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,021,338 (GRCm39) |
V2154G |
probably damaging |
Het |
| Btnl2 |
G |
A |
17: 34,582,333 (GRCm39) |
V300M |
possibly damaging |
Het |
| Calcrl |
A |
T |
2: 84,200,428 (GRCm39) |
N117K |
possibly damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,052 (GRCm39) |
S83P |
probably damaging |
Het |
| Ccdc196 |
A |
G |
12: 78,249,070 (GRCm39) |
K139E |
probably damaging |
Het |
| Ccl22 |
A |
T |
8: 95,473,528 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
T |
A |
16: 44,610,539 (GRCm39) |
S216T |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,278,906 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,674,260 (GRCm39) |
I47T |
probably damaging |
Het |
| Chodl |
G |
A |
16: 78,743,572 (GRCm39) |
V220I |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,479,807 (GRCm39) |
T225A |
probably benign |
Het |
| Duoxa1 |
T |
C |
2: 122,134,318 (GRCm39) |
S267G |
probably damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,341,507 (GRCm39) |
S164N |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,908,181 (GRCm39) |
D2607G |
possibly damaging |
Het |
| Galnt5 |
A |
G |
2: 57,889,231 (GRCm39) |
D277G |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,612,006 (GRCm39) |
I212T |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,038,213 (GRCm39) |
|
probably null |
Het |
| Gm5478 |
T |
C |
15: 101,553,883 (GRCm39) |
D243G |
probably damaging |
Het |
| Hspg2 |
A |
T |
4: 137,246,600 (GRCm39) |
Q1096L |
probably benign |
Het |
| Hycc1 |
T |
C |
5: 24,196,754 (GRCm39) |
I45V |
possibly damaging |
Het |
| Idh3b |
A |
G |
2: 130,123,447 (GRCm39) |
V181A |
probably damaging |
Het |
| Igf2bp3 |
T |
C |
6: 49,094,082 (GRCm39) |
|
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,577,929 (GRCm39) |
*382Q |
probably null |
Het |
| Impg2 |
A |
C |
16: 56,088,693 (GRCm39) |
H1073P |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,854,134 (GRCm39) |
E639G |
unknown |
Het |
| Kcne4 |
A |
G |
1: 78,795,603 (GRCm39) |
M84V |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,957,713 (GRCm39) |
F1004I |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 16,222,820 (GRCm39) |
I2040V |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,878 (GRCm39) |
D110G |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 82,009,076 (GRCm39) |
V1237A |
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,752,495 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,145,883 (GRCm39) |
F1293L |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,440,294 (GRCm39) |
T280A |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,928,411 (GRCm39) |
A6085E |
probably damaging |
Het |
| Or51b6b |
T |
A |
7: 103,310,050 (GRCm39) |
I136F |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,375,993 (GRCm39) |
A1381T |
probably benign |
Het |
| Pramel41 |
T |
A |
5: 94,594,891 (GRCm39) |
N250K |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,621 (GRCm39) |
V1462A |
probably damaging |
Het |
| Rbx1 |
T |
A |
15: 81,355,163 (GRCm39) |
C56* |
probably null |
Het |
| Reln |
A |
G |
5: 22,181,562 (GRCm39) |
S1774P |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
| Sarnp |
T |
C |
10: 128,684,137 (GRCm39) |
V111A |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,513,636 (GRCm39) |
Q345K |
probably benign |
Het |
| Slc18b1 |
A |
G |
10: 23,701,942 (GRCm39) |
|
probably null |
Het |
| Slc37a2 |
T |
A |
9: 37,152,630 (GRCm39) |
T64S |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,395,727 (GRCm39) |
D710G |
possibly damaging |
Het |
| Srp72 |
T |
A |
5: 77,142,070 (GRCm39) |
Y375N |
possibly damaging |
Het |
| Tmco4 |
T |
A |
4: 138,737,810 (GRCm39) |
V135D |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,802,955 (GRCm39) |
D335G |
probably damaging |
Het |
| Tsfm |
T |
C |
10: 126,858,778 (GRCm39) |
M196V |
probably benign |
Het |
| Tspan10 |
T |
A |
11: 120,335,522 (GRCm39) |
C211S |
probably damaging |
Het |
| Ttc21b |
A |
T |
2: 66,061,656 (GRCm39) |
M498K |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,704,928 (GRCm39) |
|
probably null |
Het |
| Ttll1 |
G |
T |
15: 83,386,397 (GRCm39) |
Y69* |
probably null |
Het |
| Usp28 |
T |
A |
9: 48,912,842 (GRCm39) |
L31H |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,400 (GRCm39) |
S739P |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,533,555 (GRCm39) |
F64I |
probably damaging |
Het |
| Ywhaq |
A |
G |
12: 21,446,281 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,150,409 (GRCm39) |
S459P |
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 |
|
|
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 |
|
|
R9044:Gse1
|
UTSW |
8 |
120,957,269 (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'- CTTTCTAGGCCAGGAACAAACCG -3'
(R):5'- CCCAAGATGGTCTGTGTTGAC -3'
Sequencing Primer
(F):5'- AGCACTTTGGTGGCCCTC -3'
(R):5'- CTTTTCAAGTTCAGTAAGGAAAGGCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation