Incidental Mutation 'R5782:Gse1'
| ID |
447808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
043379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5782 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121293260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 204
(S204P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
|
| AlphaFold |
Q3U3C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034279
AA Change: S204P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: S204P
| 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: S194P
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: S194P
| 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: S191P
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: S191P
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,735 (GRCm39) |
Q265L |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,189,494 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
T |
8: 125,283,870 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,626,756 (GRCm39) |
L142P |
probably damaging |
Het |
| Arhgef19 |
C |
A |
4: 140,983,623 (GRCm39) |
Q719K |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,874,466 (GRCm39) |
V569A |
probably benign |
Het |
| Atrnl1 |
G |
T |
19: 57,741,718 (GRCm39) |
W1159L |
possibly damaging |
Het |
| Atxn2 |
T |
C |
5: 121,935,373 (GRCm39) |
Y325H |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 95,844,243 (GRCm39) |
Y770* |
probably null |
Het |
| Cdc20 |
T |
C |
4: 118,290,239 (GRCm39) |
E474G |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,802,412 (GRCm39) |
L254P |
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,584,894 (GRCm39) |
N333I |
probably damaging |
Het |
| Cox4i2 |
A |
C |
2: 152,606,731 (GRCm39) |
D150A |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,770,921 (GRCm39) |
I314M |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,060,858 (GRCm39) |
Y67C |
probably damaging |
Het |
| Cyp2j9 |
C |
T |
4: 96,462,142 (GRCm39) |
V380I |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,525,833 (GRCm39) |
N302S |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,589,302 (GRCm39) |
H306L |
probably benign |
Het |
| Hspa13 |
C |
A |
16: 75,554,985 (GRCm39) |
R367L |
probably damaging |
Het |
| Kcnk2 |
T |
G |
1: 188,988,776 (GRCm39) |
D267A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 57,998,396 (GRCm39) |
Y68H |
probably damaging |
Het |
| Khdc4 |
T |
G |
3: 88,618,985 (GRCm39) |
V563G |
probably damaging |
Het |
| Klf7 |
C |
T |
1: 64,081,570 (GRCm39) |
E253K |
possibly damaging |
Het |
| Lcn12 |
A |
T |
2: 25,383,769 (GRCm39) |
F34I |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,386 (GRCm39) |
R401W |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,593,350 (GRCm39) |
S86T |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,899 (GRCm39) |
I81M |
probably benign |
Het |
| Mtus1 |
T |
A |
8: 41,535,764 (GRCm39) |
I651F |
probably damaging |
Het |
| Myl2 |
T |
A |
5: 122,242,933 (GRCm39) |
F106L |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,154,059 (GRCm39) |
K2351* |
probably null |
Het |
| Or14c45 |
T |
A |
7: 86,176,421 (GRCm39) |
I152N |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,718,956 (GRCm39) |
I94T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Parg |
A |
T |
14: 31,996,862 (GRCm39) |
R318* |
probably null |
Het |
| Pcdhga3 |
C |
T |
18: 37,809,353 (GRCm39) |
S602F |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,480,223 (GRCm39) |
V2028A |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,824 (GRCm39) |
T3960A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,759,233 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Psma6 |
A |
G |
12: 55,457,041 (GRCm39) |
N109S |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,376,496 (GRCm39) |
I659F |
possibly damaging |
Het |
| Rap1gds1 |
C |
G |
3: 138,664,840 (GRCm39) |
E288D |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,223,054 (GRCm39) |
R993K |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,364,044 (GRCm39) |
L146F |
probably damaging |
Het |
| Six4 |
A |
G |
12: 73,150,832 (GRCm39) |
V571A |
probably benign |
Het |
| Slc2a10 |
C |
A |
2: 165,356,758 (GRCm39) |
Y139* |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 55,550,501 (GRCm39) |
I66V |
possibly damaging |
Het |
| Slfn8 |
G |
T |
11: 82,907,867 (GRCm39) |
N46K |
probably damaging |
Het |
| Smc6 |
G |
C |
12: 11,340,835 (GRCm39) |
A496P |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,070 (GRCm39) |
N902K |
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,644,584 (GRCm39) |
Y114N |
possibly damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,380,770 (GRCm39) |
V271M |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,542,246 (GRCm39) |
I1920V |
probably benign |
Het |
| Trbc2 |
A |
G |
6: 41,523,871 (GRCm39) |
|
probably benign |
Het |
| Trpc2 |
A |
G |
7: 101,733,186 (GRCm39) |
D419G |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,639,634 (GRCm39) |
N1654S |
probably benign |
Het |
| Tsku |
A |
T |
7: 98,002,057 (GRCm39) |
D91E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,606,355 (GRCm39) |
R18151S |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,142,224 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,454,477 (GRCm39) |
G435S |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,603,001 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,253 (GRCm39) |
C558S |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,418,269 (GRCm39) |
C2943Y |
unknown |
Het |
| Zfp1002 |
T |
C |
2: 150,097,438 (GRCm39) |
E25G |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,219,128 (GRCm39) |
S384P |
possibly damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp575 |
C |
A |
7: 24,285,027 (GRCm39) |
G205C |
possibly damaging |
Het |
| Zfp740 |
G |
T |
15: 102,116,801 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,737 (GRCm39) |
E265G |
possibly 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 |
|
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'- GAGGCTTTCTCCCTAAATACCC -3'
(R):5'- TGTCTCAACAAAGGCTGGACC -3'
Sequencing Primer
(F):5'- AGGATGTTTCTAGAATATGGCTCCCC -3'
(R):5'- CCACAAGGTCAGATGGGGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation