Incidental Mutation 'R8544:Gse1'
| ID |
659533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
068509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R8544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121280391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 36
(V36I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
[ENSMUST00000180448]
|
| AlphaFold |
Q3U3C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034279
AA Change: V36I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: V36I
| 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 damaging
Transcript: ENSMUST00000118136
AA Change: V26I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: V26I
| 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 |
probably damaging
Transcript: ENSMUST00000120493
AA Change: V23I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: V23I
| 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 |
probably benign
Transcript: ENSMUST00000180448
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
A |
15: 37,425,979 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,832,461 (GRCm39) |
L1171H |
probably damaging |
Het |
| Ace |
A |
T |
11: 105,862,116 (GRCm39) |
|
probably null |
Het |
| Adsl |
G |
T |
15: 80,832,734 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,585,890 (GRCm39) |
M215T |
probably benign |
Het |
| Cabp2 |
A |
T |
19: 4,134,892 (GRCm39) |
R77S |
probably damaging |
Het |
| Cast |
A |
T |
13: 74,882,177 (GRCm39) |
H40Q |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,586,358 (GRCm39) |
Y946N |
unknown |
Het |
| Ccdc9b |
C |
T |
2: 118,587,702 (GRCm39) |
R544K |
unknown |
Het |
| Chst14 |
A |
G |
2: 118,758,010 (GRCm39) |
Y268C |
probably damaging |
Het |
| Dennd1a |
T |
C |
2: 37,872,920 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 30,990,861 (GRCm39) |
Y3153H |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 24,973,856 (GRCm39) |
V271A |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fam234b |
A |
G |
6: 135,210,287 (GRCm39) |
Y561C |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,195,448 (GRCm39) |
|
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,907,160 (GRCm39) |
M541K |
probably damaging |
Het |
| Gjd3 |
C |
A |
11: 98,873,488 (GRCm39) |
E119* |
probably null |
Het |
| Gm266 |
T |
C |
12: 111,451,799 (GRCm39) |
T136A |
possibly damaging |
Het |
| Gng11 |
G |
A |
6: 4,008,045 (GRCm39) |
C36Y |
possibly damaging |
Het |
| Hycc2 |
T |
C |
1: 58,568,981 (GRCm39) |
T477A |
probably benign |
Het |
| Invs |
A |
T |
4: 48,397,598 (GRCm39) |
H335L |
probably damaging |
Het |
| Kcnc2 |
A |
T |
10: 112,292,101 (GRCm39) |
I28F |
probably damaging |
Het |
| Klhl40 |
C |
T |
9: 121,607,892 (GRCm39) |
H351Y |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,201 (GRCm39) |
L382P |
probably benign |
Het |
| Lenep |
A |
T |
3: 89,309,784 (GRCm39) |
C55S |
possibly damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,970 (GRCm39) |
Y248* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,038,325 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
T |
C |
10: 80,955,376 (GRCm39) |
M32T |
possibly damaging |
Het |
| Mnt |
A |
G |
11: 74,722,218 (GRCm39) |
R22G |
probably damaging |
Het |
| Mroh1 |
G |
T |
15: 76,327,558 (GRCm39) |
E1127* |
probably null |
Het |
| Mtmr4 |
A |
G |
11: 87,502,735 (GRCm39) |
R930G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,608,935 (GRCm39) |
V644A |
probably benign |
Het |
| Ngf |
G |
T |
3: 102,427,991 (GRCm39) |
V247F |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,175,018 (GRCm39) |
Y63C |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,312 (GRCm39) |
E22G |
possibly damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,938 (GRCm39) |
I87N |
probably damaging |
Het |
| Phf12 |
A |
C |
11: 77,918,235 (GRCm39) |
I816L |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,593,199 (GRCm39) |
G1638V |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,512,903 (GRCm39) |
S67R |
probably benign |
Het |
| Plekhf1 |
A |
G |
7: 37,920,768 (GRCm39) |
F267L |
probably damaging |
Het |
| Poc1b |
A |
T |
10: 98,960,770 (GRCm39) |
K60* |
probably null |
Het |
| Ppic |
G |
A |
18: 53,544,612 (GRCm39) |
T66M |
probably damaging |
Het |
| Prep |
G |
T |
10: 45,029,223 (GRCm39) |
G541V |
probably damaging |
Het |
| Rasal3 |
C |
T |
17: 32,611,093 (GRCm39) |
V947I |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,035,124 (GRCm39) |
R319G |
probably damaging |
Het |
| Rbm34 |
A |
G |
8: 127,696,821 (GRCm39) |
S94P |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Sacm1l |
T |
C |
9: 123,406,123 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,213,295 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,499,841 (GRCm39) |
T215S |
probably benign |
Het |
| Sfrp4 |
A |
G |
13: 19,816,336 (GRCm39) |
|
probably null |
Het |
| Slc37a3 |
T |
C |
6: 39,321,297 (GRCm39) |
I406V |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sptbn1 |
C |
A |
11: 30,169,750 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
T |
C |
18: 77,342,114 (GRCm39) |
Y275H |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,885,008 (GRCm39) |
C137* |
probably null |
Het |
| Svep1 |
A |
G |
4: 58,206,025 (GRCm39) |
S118P |
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,656 (GRCm39) |
|
probably null |
Het |
| Tril |
C |
T |
6: 53,796,295 (GRCm39) |
S309N |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,386,094 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 63,874,356 (GRCm39) |
|
probably null |
Het |
| Tyr |
T |
C |
7: 87,142,000 (GRCm39) |
T110A |
probably benign |
Het |
| Upf1 |
A |
C |
8: 70,789,702 (GRCm39) |
F711C |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,800,480 (GRCm39) |
V267D |
probably damaging |
Het |
| Virma |
C |
A |
4: 11,516,949 (GRCm39) |
D714E |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,564,773 (GRCm39) |
Q220P |
possibly damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,911,191 (GRCm39) |
I701V |
|
Het |
| Vwde |
T |
A |
6: 13,187,652 (GRCm39) |
M612L |
probably benign |
Het |
| Wwox |
A |
G |
8: 115,215,646 (GRCm39) |
T140A |
probably benign |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
T |
A |
17: 27,193,448 (GRCm39) |
C284* |
probably null |
Het |
| Zdhhc12 |
C |
A |
2: 29,983,486 (GRCm39) |
A39S |
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,758,227 (GRCm39) |
I720K |
possibly damaging |
Het |
| Zfp595 |
G |
A |
13: 67,465,244 (GRCm39) |
R340C |
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 |
|
|
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 |
|
|
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'- ATTCAGCTTCAACCGGGGTG -3'
(R):5'- CTACACTTGACGGCTACACC -3'
Sequencing Primer
(F):5'- TTCAACCGGGGTGCCTTTAGAC -3'
(R):5'- GTGCAGTACCACAAGCTGCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation