Incidental Mutation 'R5640:Gse1'
ID |
440610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gse1
|
Ensembl Gene |
ENSMUSG00000031822 |
Gene Name |
genetic suppressor element 1, coiled-coil protein |
Synonyms |
|
MMRRC Submission |
043289-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R5640 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121289416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 90
(H90R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
|
AlphaFold |
Q3U3C9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034279
AA Change: H103R
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000034279 Gene: ENSMUSG00000031822 AA Change: H103R
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 |
possibly damaging
Transcript: ENSMUST00000118136
AA Change: H93R
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000112981 Gene: ENSMUSG00000031822 AA Change: H93R
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 |
possibly damaging
Transcript: ENSMUST00000120493
AA Change: H90R
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113577 Gene: ENSMUSG00000031822 AA Change: H90R
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: ENSMUST00000211997
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,861,511 (GRCm39) |
Y220C |
probably damaging |
Het |
Actl6a |
A |
G |
3: 32,772,199 (GRCm39) |
T170A |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,867,796 (GRCm39) |
V540A |
probably benign |
Het |
Aga |
T |
C |
8: 53,964,919 (GRCm39) |
L27P |
probably damaging |
Het |
Agmat |
T |
A |
4: 141,483,134 (GRCm39) |
H189Q |
probably damaging |
Het |
Alx3 |
C |
A |
3: 107,507,977 (GRCm39) |
T162K |
probably damaging |
Het |
Armc2 |
T |
A |
10: 41,887,894 (GRCm39) |
I30L |
possibly damaging |
Het |
Atp10d |
T |
G |
5: 72,404,552 (GRCm39) |
Y487D |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,234,649 (GRCm39) |
M908I |
probably damaging |
Het |
B4galt2 |
T |
G |
4: 117,731,195 (GRCm39) |
N322T |
probably benign |
Het |
Bmal1 |
C |
T |
7: 112,907,888 (GRCm39) |
P530L |
probably damaging |
Het |
Brdt |
A |
T |
5: 107,507,174 (GRCm39) |
K525* |
probably null |
Het |
Ccdc168 |
T |
C |
1: 44,101,087 (GRCm39) |
I4V |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,778,377 (GRCm39) |
M246K |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,763,190 (GRCm39) |
H2338Q |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,389,633 (GRCm39) |
D244V |
possibly damaging |
Het |
Dhrs9 |
C |
A |
2: 69,224,822 (GRCm39) |
A170E |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,220,529 (GRCm39) |
N550D |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,022,082 (GRCm39) |
T3894I |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,705,462 (GRCm39) |
H217R |
probably damaging |
Het |
Dpysl2 |
C |
T |
14: 67,071,817 (GRCm39) |
V108I |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,106,381 (GRCm39) |
T199A |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,163,767 (GRCm39) |
D183G |
probably damaging |
Het |
Fam110b |
T |
G |
4: 5,798,689 (GRCm39) |
Y36D |
probably damaging |
Het |
Fbxl21 |
G |
A |
13: 56,685,194 (GRCm39) |
D407N |
probably benign |
Het |
Fuca2 |
G |
A |
10: 13,383,174 (GRCm39) |
|
probably null |
Het |
Gnas |
C |
A |
2: 174,126,764 (GRCm39) |
R100S |
probably benign |
Het |
Hoxc10 |
G |
T |
15: 102,875,702 (GRCm39) |
C137F |
probably benign |
Het |
Ipp |
T |
G |
4: 116,377,886 (GRCm39) |
L252R |
possibly damaging |
Het |
Jmjd1c |
T |
A |
10: 67,061,857 (GRCm39) |
S1403R |
probably benign |
Het |
Kif19a |
A |
G |
11: 114,670,041 (GRCm39) |
M79V |
probably benign |
Het |
Lipo4 |
T |
C |
19: 33,478,986 (GRCm39) |
T285A |
possibly damaging |
Het |
Lrrc66 |
A |
T |
5: 73,765,977 (GRCm39) |
D355E |
probably benign |
Het |
Lrsam1 |
T |
A |
2: 32,835,864 (GRCm39) |
Q301L |
probably benign |
Het |
Med6 |
C |
T |
12: 81,628,628 (GRCm39) |
R138Q |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,202,421 (GRCm39) |
T174A |
probably benign |
Het |
Nrbp1 |
C |
T |
5: 31,406,929 (GRCm39) |
R322W |
possibly damaging |
Het |
Or10ak14 |
T |
A |
4: 118,610,986 (GRCm39) |
T250S |
probably benign |
Het |
Or11g24 |
C |
A |
14: 50,662,111 (GRCm39) |
A45D |
probably benign |
Het |
Or4a47 |
T |
A |
2: 89,666,282 (GRCm39) |
E2D |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,429,641 (GRCm39) |
E734G |
probably damaging |
Het |
Pgap6 |
C |
T |
17: 26,337,846 (GRCm39) |
T410I |
possibly damaging |
Het |
Pnpla7 |
C |
T |
2: 24,893,013 (GRCm39) |
T167I |
possibly damaging |
Het |
Pop7 |
T |
C |
5: 137,500,321 (GRCm39) |
N4S |
possibly damaging |
Het |
Ppm1h |
C |
A |
10: 122,618,183 (GRCm39) |
P114Q |
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,426,367 (GRCm39) |
T473A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,669,813 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
G |
16: 15,647,633 (GRCm39) |
W3686G |
possibly damaging |
Het |
Ptchd4 |
C |
A |
17: 42,814,026 (GRCm39) |
H642Q |
possibly damaging |
Het |
Rad1 |
A |
G |
15: 10,496,009 (GRCm39) |
Y228C |
possibly damaging |
Het |
Rgs22 |
G |
A |
15: 36,107,101 (GRCm39) |
T56I |
probably benign |
Het |
Rnf135 |
C |
A |
11: 80,084,733 (GRCm39) |
H169N |
probably benign |
Het |
Rnft1 |
C |
T |
11: 86,377,319 (GRCm39) |
Q128* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,864,585 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
A |
G |
10: 58,649,769 (GRCm39) |
S125G |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,826,806 (GRCm39) |
E295G |
possibly damaging |
Het |
Themis |
A |
G |
10: 28,739,372 (GRCm39) |
Q614R |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,044,408 (GRCm39) |
C1129* |
probably null |
Het |
Tmem68 |
A |
T |
4: 3,569,512 (GRCm39) |
F59L |
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,595,426 (GRCm39) |
T660A |
probably damaging |
Het |
Vwa5b2 |
G |
T |
16: 20,416,292 (GRCm39) |
C484F |
probably damaging |
Het |
Zfp418 |
T |
A |
7: 7,184,980 (GRCm39) |
C314* |
probably null |
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 |
|
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'- CATTCACTCAATATGGCCGATCC -3'
(R):5'- GTGGACAGAAAACAGCCTGC -3'
Sequencing Primer
(F):5'- CAGAATGGCTGTGGGTCC -3'
(R):5'- GAAAACAGCCTGCAGGAAC -3'
|
Posted On |
2016-11-08 |