Incidental Mutation 'R1532:Gse1'
| ID |
166666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
039571-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R1532 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to G
at 121294949 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: R357G
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: R357G
| 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: R347G
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: R347G
| 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: R344G
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: R344G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211997
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,166,302 (GRCm39) |
H394N |
probably benign |
Het |
| Ahrr |
A |
G |
13: 74,361,826 (GRCm39) |
S558P |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,499,919 (GRCm39) |
N1184S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,476,696 (GRCm39) |
C14* |
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,736,718 (GRCm39) |
D187G |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,337 (GRCm39) |
T363A |
probably benign |
Het |
| Atxn1 |
A |
T |
13: 45,720,386 (GRCm39) |
L503Q |
possibly damaging |
Het |
| Babam1 |
A |
G |
8: 71,852,277 (GRCm39) |
D155G |
possibly damaging |
Het |
| Bbs9 |
A |
G |
9: 22,798,945 (GRCm39) |
T858A |
probably benign |
Het |
| Cacna1g |
C |
A |
11: 94,334,157 (GRCm39) |
G828V |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,380,405 (GRCm39) |
T392A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,289,689 (GRCm39) |
V469A |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,150,110 (GRCm39) |
N2576K |
probably damaging |
Het |
| Coro2b |
A |
G |
9: 62,396,705 (GRCm39) |
Y18H |
probably damaging |
Het |
| Crispld2 |
G |
T |
8: 120,750,311 (GRCm39) |
K238N |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,014 (GRCm39) |
I880T |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,292,472 (GRCm39) |
C3237F |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,771,171 (GRCm39) |
M519V |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,350,753 (GRCm39) |
C106S |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
C |
8: 120,304,162 (GRCm39) |
F67L |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,175,204 (GRCm39) |
L1334R |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,152,667 (GRCm39) |
I322N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,742,256 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
A |
G |
2: 150,600,670 (GRCm39) |
Q126R |
probably benign |
Het |
| Entpd7 |
C |
G |
19: 43,679,516 (GRCm39) |
P23R |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,366,541 (GRCm39) |
I970V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,861,855 (GRCm39) |
H2163L |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,999,301 (GRCm39) |
V300A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,214 (GRCm39) |
D259V |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,645,673 (GRCm39) |
S453P |
probably damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,223,652 (GRCm39) |
T163A |
probably benign |
Het |
| Igbp1b |
T |
A |
6: 138,635,442 (GRCm39) |
M1L |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,781,456 (GRCm39) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 85,655,238 (GRCm39) |
Q249* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,492,833 (GRCm39) |
D153G |
probably null |
Het |
| Mllt10 |
G |
A |
2: 18,097,646 (GRCm39) |
|
probably null |
Het |
| Mpl |
C |
T |
4: 118,305,765 (GRCm39) |
G420E |
possibly damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,230,557 (GRCm39) |
T215S |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,994,656 (GRCm39) |
Q1179* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,635,733 (GRCm39) |
H278R |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,805,983 (GRCm39) |
I136V |
probably benign |
Het |
| Or52e18 |
T |
C |
7: 104,609,472 (GRCm39) |
I156V |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,639 (GRCm39) |
Y288C |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,934,771 (GRCm39) |
V353M |
probably damaging |
Het |
| Osbpl5 |
A |
T |
7: 143,248,817 (GRCm39) |
M589K |
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,144,969 (GRCm39) |
G859V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,625 (GRCm39) |
T3561I |
probably benign |
Het |
| Prss46 |
G |
A |
9: 110,679,236 (GRCm39) |
V146I |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,461,626 (GRCm39) |
V1139M |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,500,963 (GRCm39) |
L396P |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,833,045 (GRCm39) |
A659T |
probably benign |
Het |
| Rdm1 |
T |
C |
11: 101,524,643 (GRCm39) |
L192P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,239,742 (GRCm39) |
W842G |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,881,420 (GRCm39) |
K509R |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,713,396 (GRCm39) |
I377N |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 24,040,483 (GRCm39) |
G269D |
probably damaging |
Het |
| Slc35a5 |
T |
C |
16: 44,971,920 (GRCm39) |
T115A |
probably benign |
Het |
| Slc5a12 |
T |
G |
2: 110,440,483 (GRCm39) |
N157K |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,234,924 (GRCm39) |
V1634A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,074,919 (GRCm39) |
S2382P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,084,194 (GRCm39) |
S1100R |
probably benign |
Het |
| Tcf23 |
A |
G |
5: 31,130,901 (GRCm39) |
T180A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,804 (GRCm39) |
V2846A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,293,751 (GRCm39) |
I915K |
probably damaging |
Het |
| Uba1y |
C |
T |
Y: 828,862 (GRCm39) |
H557Y |
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,827,700 (GRCm39) |
D730E |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,605,011 (GRCm39) |
L734Q |
probably damaging |
Het |
| Vmn1r167 |
G |
T |
7: 23,204,204 (GRCm39) |
H271N |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,454 (GRCm39) |
V282A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,344,283 (GRCm39) |
K2175E |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTAAGCTGTGTTTTCAGCAGAGG -3'
(R):5'- TTCTACCGCAGTGATGGCAACTCC -3'
Sequencing Primer
(F):5'- TCAGCAGAGGTGGGGTG -3'
(R):5'- GTTGGGATGGCACCTCCTTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation