Incidental Mutation 'R6156:Gse1'
ID |
489589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gse1
|
Ensembl Gene |
ENSMUSG00000031822 |
Gene Name |
genetic suppressor element 1, coiled-coil protein |
Synonyms |
|
MMRRC Submission |
044303-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R6156 (G1)
|
Quality Score |
175.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121215866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 5
(K5E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034279]
[ENSMUST00000127664]
[ENSMUST00000180448]
|
AlphaFold |
Q3U3C9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034279
AA Change: K5E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034279 Gene: ENSMUSG00000031822 AA Change: K5E
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 |
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 |
probably benign
Transcript: ENSMUST00000180448
|
Meta Mutation Damage Score |
0.0714 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
G |
15: 64,689,488 (GRCm39) |
|
probably null |
Het |
Ank2 |
T |
C |
3: 126,737,886 (GRCm39) |
D2579G |
probably damaging |
Het |
Atp6v1b1 |
G |
C |
6: 83,735,115 (GRCm39) |
G423R |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,191,801 (GRCm39) |
N644S |
probably benign |
Het |
Bhmt1b |
C |
A |
18: 87,775,231 (GRCm39) |
Y251* |
probably null |
Het |
Capsl |
T |
G |
15: 9,465,920 (GRCm39) |
M132R |
probably damaging |
Het |
Cep120 |
A |
G |
18: 53,836,295 (GRCm39) |
Y797H |
probably benign |
Het |
Cimip4 |
T |
C |
15: 78,263,013 (GRCm39) |
T214A |
probably damaging |
Het |
Clec2e |
T |
A |
6: 129,072,061 (GRCm39) |
D106V |
possibly damaging |
Het |
Col6a2 |
C |
T |
10: 76,440,004 (GRCm39) |
V634I |
possibly damaging |
Het |
Dis3 |
T |
C |
14: 99,336,215 (GRCm39) |
E97G |
probably benign |
Het |
Dlec1 |
T |
C |
9: 118,939,281 (GRCm39) |
|
probably null |
Het |
Dock2 |
C |
A |
11: 34,197,789 (GRCm39) |
V1484F |
possibly damaging |
Het |
Ephb2 |
T |
A |
4: 136,388,816 (GRCm39) |
M593L |
probably benign |
Het |
Fcgrt |
T |
C |
7: 44,751,484 (GRCm39) |
T125A |
probably benign |
Het |
Gabbr1 |
T |
C |
17: 37,359,319 (GRCm39) |
I98T |
probably benign |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gfod1 |
T |
C |
13: 43,354,514 (GRCm39) |
S154G |
possibly damaging |
Het |
Ggt5 |
C |
T |
10: 75,445,160 (GRCm39) |
T389I |
probably damaging |
Het |
Got2 |
A |
G |
8: 96,598,896 (GRCm39) |
F169L |
probably benign |
Het |
Hyal5 |
T |
C |
6: 24,891,437 (GRCm39) |
I417T |
possibly damaging |
Het |
Igkv4-91 |
G |
T |
6: 68,745,607 (GRCm39) |
T97K |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,489,608 (GRCm39) |
Y458H |
possibly damaging |
Het |
Impg1 |
A |
T |
9: 80,230,106 (GRCm39) |
C740S |
probably damaging |
Het |
Itgb1 |
C |
G |
8: 129,458,535 (GRCm39) |
T788R |
possibly damaging |
Het |
Lman2l |
A |
G |
1: 36,477,907 (GRCm39) |
V143A |
probably damaging |
Het |
Ltbp4 |
G |
T |
7: 27,029,587 (GRCm39) |
T136K |
unknown |
Het |
Macf1 |
A |
G |
4: 123,366,073 (GRCm39) |
I1331T |
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,762,325 (GRCm39) |
A336V |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,071,879 (GRCm39) |
I536F |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,141,618 (GRCm39) |
M826V |
probably benign |
Het |
Naca |
T |
C |
10: 127,875,160 (GRCm39) |
|
probably benign |
Het |
Nr4a2 |
A |
G |
2: 57,002,364 (GRCm39) |
Y30H |
probably damaging |
Het |
Or12j4 |
A |
G |
7: 140,046,758 (GRCm39) |
T215A |
probably benign |
Het |
Or1e35 |
A |
T |
11: 73,797,447 (GRCm39) |
Y290* |
probably null |
Het |
Or2n1d |
T |
A |
17: 38,646,064 (GRCm39) |
N5K |
probably damaging |
Het |
Or4a67 |
T |
A |
2: 88,597,934 (GRCm39) |
I242L |
probably benign |
Het |
Or4f14d |
A |
T |
2: 111,960,445 (GRCm39) |
L237Q |
probably damaging |
Het |
Or4k42 |
A |
T |
2: 111,320,095 (GRCm39) |
M136K |
probably damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,484 (GRCm39) |
V173A |
possibly damaging |
Het |
Or8g22 |
T |
A |
9: 38,958,671 (GRCm39) |
M15L |
possibly damaging |
Het |
Paqr3 |
A |
C |
5: 97,256,128 (GRCm39) |
L82R |
probably damaging |
Het |
Pex6 |
C |
T |
17: 47,031,567 (GRCm39) |
P456S |
probably benign |
Het |
Pih1d2 |
A |
T |
9: 50,532,452 (GRCm39) |
K186I |
possibly damaging |
Het |
Plekhh3 |
A |
G |
11: 101,061,013 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
C |
A |
9: 110,216,849 (GRCm39) |
|
probably benign |
Het |
Rcor3 |
T |
A |
1: 191,812,142 (GRCm39) |
|
probably benign |
Het |
Rgs11 |
T |
A |
17: 26,429,439 (GRCm39) |
Y403* |
probably null |
Het |
Scn10a |
T |
C |
9: 119,464,649 (GRCm39) |
N984D |
probably benign |
Het |
Snx14 |
C |
T |
9: 88,289,392 (GRCm39) |
A287T |
possibly damaging |
Het |
Stx3 |
T |
C |
19: 11,780,874 (GRCm39) |
D33G |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,227,494 (GRCm39) |
K1393R |
probably damaging |
Het |
Tas2r129 |
T |
C |
6: 132,928,455 (GRCm39) |
S131P |
probably benign |
Het |
Tbx15 |
G |
T |
3: 99,220,431 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,700,795 (GRCm39) |
V1237A |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,888,589 (GRCm39) |
Y1735H |
probably damaging |
Het |
Ttc22 |
A |
G |
4: 106,495,780 (GRCm39) |
K378R |
probably benign |
Het |
Tubg2 |
A |
G |
11: 101,051,635 (GRCm39) |
K287E |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,310,762 (GRCm39) |
I348T |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,651,409 (GRCm39) |
I1585F |
probably benign |
Het |
Vmn2r104 |
T |
C |
17: 20,261,909 (GRCm39) |
Y407C |
probably damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,692,447 (GRCm39) |
L136F |
probably benign |
Het |
Vmn2r38 |
A |
G |
7: 9,097,611 (GRCm39) |
S161P |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,953,606 (GRCm39) |
I590T |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,217,248 (GRCm39) |
E323G |
probably damaging |
Het |
Wdhd1 |
C |
T |
14: 47,505,653 (GRCm39) |
G273D |
probably damaging |
Het |
Xpo6 |
G |
T |
7: 125,708,016 (GRCm39) |
Q851K |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
probably damaging |
Het |
Zfp536 |
A |
G |
7: 37,173,281 (GRCm39) |
C274R |
unknown |
Het |
Zfp64 |
A |
G |
2: 168,768,088 (GRCm39) |
I508T |
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 |
|
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 |
|
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'- ACTGGTTTCTACCCACGGTG -3'
(R):5'- GCGGGAAAGTAACTTCACACCC -3'
Sequencing Primer
(F):5'- GCTCCGGGGATCGCTCTTC -3'
(R):5'- GTAACTTCACACCCGCGCG -3'
|
Posted On |
2017-10-10 |