Incidental Mutation 'R8896:Gse1'
| ID |
678036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
068698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R8896 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121303185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1109
(S1109A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034279
(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: S1109A
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: S1109A
| 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: ENSMUST00000118136
AA Change: S1099A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: S1099A
| 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 benign
Transcript: ENSMUST00000120493
AA Change: S1096A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: S1096A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (73/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
G |
1: 58,291,233 (GRCm39) |
S784A |
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,552,425 (GRCm39) |
H581L |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,899,781 (GRCm39) |
Y915H |
probably damaging |
Het |
| Atp4b |
T |
C |
8: 13,437,514 (GRCm39) |
D213G |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,113,640 (GRCm39) |
S328G |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,410,876 (GRCm39) |
Y685F |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,831,203 (GRCm39) |
A580T |
probably benign |
Het |
| Cdc42bpa |
GACAACA |
GACA |
1: 179,958,373 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,408,155 (GRCm39) |
V1396D |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,254 (GRCm39) |
I404V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,851,581 (GRCm39) |
M137K |
possibly damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,644,454 (GRCm39) |
Y257C |
unknown |
Het |
| Dennd1c |
T |
A |
17: 57,381,512 (GRCm39) |
D116V |
probably damaging |
Het |
| Dph2 |
G |
A |
4: 117,747,575 (GRCm39) |
R270* |
probably null |
Het |
| Dpp8 |
A |
C |
9: 64,985,318 (GRCm39) |
H792P |
possibly damaging |
Het |
| Dusp29 |
T |
C |
14: 21,736,763 (GRCm39) |
D113G |
probably benign |
Het |
| Efs |
T |
C |
14: 55,157,756 (GRCm39) |
E185G |
possibly damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,056 (GRCm39) |
E480G |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,583,828 (GRCm39) |
T336A |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,783,852 (GRCm39) |
|
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,955 (GRCm39) |
V560D |
probably damaging |
Het |
| Gbp2b |
C |
A |
3: 142,309,327 (GRCm39) |
T146K |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,211,308 (GRCm39) |
T346I |
probably damaging |
Het |
| Glrx |
G |
T |
13: 75,995,317 (GRCm39) |
C79F |
probably damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,490,616 (GRCm39) |
T225S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,483 (GRCm39) |
F456L |
possibly damaging |
Het |
| Gstp3 |
A |
T |
19: 4,108,573 (GRCm39) |
L63Q |
probably damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,147,286 (GRCm39) |
I801N |
possibly damaging |
Het |
| Ido1 |
G |
T |
8: 25,077,880 (GRCm39) |
D153E |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,360 (GRCm39) |
S255C |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,629,294 (GRCm39) |
N39D |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,409,095 (GRCm39) |
S269T |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,978 (GRCm39) |
V296I |
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,585,132 (GRCm39) |
I209F |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,870,275 (GRCm39) |
D523V |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,678,328 (GRCm39) |
P652L |
probably benign |
Het |
| Med30 |
G |
A |
15: 52,584,516 (GRCm39) |
V145I |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,326,860 (GRCm39) |
D163E |
probably damaging |
Het |
| Meltf |
T |
A |
16: 31,709,522 (GRCm39) |
|
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mppe1 |
T |
C |
18: 67,370,472 (GRCm39) |
D75G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,673 (GRCm38) |
P1516S |
probably benign |
Het |
| Myo3b |
C |
A |
2: 70,069,160 (GRCm39) |
F494L |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,298,688 (GRCm39) |
T226A |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,921,277 (GRCm39) |
V347A |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,019,235 (GRCm39) |
|
probably null |
Het |
| Nup210l |
A |
G |
3: 90,025,932 (GRCm39) |
R185G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,210,829 (GRCm39) |
L445S |
probably damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,502 (GRCm39) |
M263L |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,452 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,770 (GRCm39) |
L82P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,677 (GRCm38) |
F31I |
probably benign |
Het |
| Pdcd5 |
A |
T |
7: 35,346,795 (GRCm39) |
M1K |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,740,615 (GRCm39) |
T2161A |
possibly damaging |
Het |
| Pla2g3 |
A |
T |
11: 3,442,151 (GRCm39) |
S404C |
probably null |
Het |
| Plec |
A |
G |
15: 76,078,560 (GRCm39) |
V60A |
unknown |
Het |
| Prpsap2 |
A |
G |
11: 61,643,736 (GRCm39) |
S66P |
possibly damaging |
Het |
| Rarb |
A |
G |
14: 16,436,804 (GRCm38) |
L239P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,583,395 (GRCm39) |
Y2845* |
probably null |
Het |
| Spta1 |
T |
C |
1: 174,045,548 (GRCm39) |
C1569R |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,986,115 (GRCm39) |
S465L |
probably damaging |
Het |
| Tmub1 |
A |
T |
5: 24,651,680 (GRCm39) |
S80T |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,647,847 (GRCm39) |
F322S |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,411,203 (GRCm39) |
A455V |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,882 (GRCm39) |
N459K |
probably damaging |
Het |
| Wdr11 |
C |
T |
7: 129,207,437 (GRCm39) |
R300* |
probably null |
Het |
| Zer1 |
A |
G |
2: 29,993,430 (GRCm39) |
F559L |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,519 (GRCm39) |
V425D |
probably damaging |
Het |
| Zfp738 |
G |
A |
13: 67,817,910 (GRCm39) |
L694F |
|
Het |
| Zfp839 |
C |
T |
12: 110,835,277 (GRCm39) |
A844V |
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 |
|
|
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 |
|
|
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'- GGAACTCTGCTTTGCTATCTGC -3'
(R):5'- CCAGTGATACGTCCCTTAGATGC -3'
Sequencing Primer
(F):5'- CAGAGCAGAGCCACAAAGTCG -3'
(R):5'- GTCCCTTAGATGCCACCTGAAAGAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation