Incidental Mutation 'IGL02931:Gse1'
| ID |
364124 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
IGL02931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 121304808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034278]
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
|
| AlphaFold |
Q3U3C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034278
|
| SMART Domains |
Protein: ENSMUSP00000034278
Gene: ENSMUSG00000031821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sld5
|
42 |
153 |
9.6e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000034279
AA Change: M1178V
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: M1178V
| 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: M1168V
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: M1168V
| 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: M1165V
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: M1165V
| 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 |
noncoding transcript
Transcript: ENSMUST00000126094
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000141113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155609
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
G |
A |
11: 7,029,012 (GRCm39) |
R254Q |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,833 (GRCm39) |
Y269C |
probably damaging |
Het |
| Apol7a |
C |
A |
15: 77,277,650 (GRCm39) |
E33* |
probably null |
Het |
| Arhgap29 |
T |
C |
3: 121,786,509 (GRCm39) |
V358A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,728 (GRCm39) |
S148P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,740,779 (GRCm39) |
N60D |
possibly damaging |
Het |
| Bcl9l |
C |
T |
9: 44,412,047 (GRCm39) |
P11L |
probably damaging |
Het |
| Ccdc89 |
A |
C |
7: 90,076,110 (GRCm39) |
K107Q |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,249,663 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,424,225 (GRCm39) |
D1067G |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,910,389 (GRCm39) |
R511S |
probably benign |
Het |
| Disp3 |
G |
A |
4: 148,333,658 (GRCm39) |
S1060F |
possibly damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,667 (GRCm39) |
T308A |
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,314,266 (GRCm39) |
N178S |
probably damaging |
Het |
| Gas6 |
C |
A |
8: 13,527,136 (GRCm39) |
C204F |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,777,522 (GRCm39) |
S558P |
possibly damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,279 (GRCm39) |
T525A |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,532,958 (GRCm39) |
S3075L |
probably benign |
Het |
| Hnf4a |
G |
A |
2: 163,408,037 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
T |
5: 35,034,097 (GRCm39) |
E1894D |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,263,650 (GRCm39) |
E716K |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,937,874 (GRCm39) |
Y1524C |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,931 (GRCm39) |
T211A |
unknown |
Het |
| Lin54 |
T |
C |
5: 100,628,180 (GRCm39) |
I8V |
possibly damaging |
Het |
| Lipe |
A |
G |
7: 25,082,760 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,545,678 (GRCm39) |
V508E |
probably damaging |
Het |
| Lrrc9 |
C |
A |
12: 72,500,923 (GRCm39) |
H216Q |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,709 (GRCm39) |
L169P |
probably damaging |
Het |
| Map9 |
C |
A |
3: 82,284,428 (GRCm39) |
T334K |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,602 (GRCm39) |
A338T |
probably damaging |
Het |
| Mst1 |
A |
T |
9: 107,961,841 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
A |
4: 148,549,421 (GRCm39) |
F602I |
probably benign |
Het |
| Mylpf |
T |
A |
7: 126,812,798 (GRCm39) |
D98E |
probably benign |
Het |
| Naca |
C |
A |
10: 127,883,551 (GRCm39) |
Q2059K |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,891,356 (GRCm39) |
T421I |
possibly damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,348,940 (GRCm38) |
|
noncoding transcript |
Het |
| Npat |
C |
T |
9: 53,482,341 (GRCm39) |
Q1350* |
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,342,287 (GRCm39) |
N123S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,299,410 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,336,923 (GRCm39) |
F280L |
probably benign |
Het |
| Piezo1 |
A |
C |
8: 123,210,258 (GRCm39) |
D2224E |
probably damaging |
Het |
| Pnpla7 |
A |
T |
2: 24,905,241 (GRCm39) |
I610F |
possibly damaging |
Het |
| Psapl1 |
A |
T |
5: 36,362,233 (GRCm39) |
D275V |
probably damaging |
Het |
| Ptpdc1 |
T |
A |
13: 48,744,095 (GRCm39) |
|
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,454,947 (GRCm39) |
E31G |
possibly damaging |
Het |
| Sdhc |
T |
C |
1: 170,971,124 (GRCm39) |
|
probably benign |
Het |
| Smim23 |
G |
T |
11: 32,770,667 (GRCm39) |
P80T |
probably damaging |
Het |
| Snupn |
C |
T |
9: 56,864,364 (GRCm39) |
T21I |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,073,996 (GRCm39) |
V1097A |
probably benign |
Het |
| Ttc16 |
A |
G |
2: 32,661,939 (GRCm39) |
Y164H |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,730 (GRCm39) |
E296G |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,633,195 (GRCm39) |
V34M |
probably damaging |
Het |
| Vwf |
A |
C |
6: 125,592,931 (GRCm39) |
S764R |
possibly damaging |
Het |
| Zfand3 |
A |
G |
17: 30,411,611 (GRCm39) |
S146G |
probably benign |
Het |
| Zfp280d |
T |
G |
9: 72,203,307 (GRCm39) |
F18L |
probably benign |
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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation