Incidental Mutation 'R6573:Gse1'
ID |
523315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gse1
|
Ensembl Gene |
ENSMUSG00000031822 |
Gene Name |
genetic suppressor element 1, coiled-coil protein |
Synonyms |
|
MMRRC Submission |
044697-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.146)
|
Stock # |
R6573 (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 C
at 121294536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 288
(S288P)
|
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: S288P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034279 Gene: ENSMUSG00000031822 AA Change: S288P
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: S278P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112981 Gene: ENSMUSG00000031822 AA Change: S278P
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: S275P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113577 Gene: ENSMUSG00000031822 AA Change: S275P
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
|
Meta Mutation Damage Score |
0.2850 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
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 |
|
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'- AGACAGTGGACATGCTCTTTGC -3'
(R):5'- AACACAGCTTACCTCTCTGC -3'
Sequencing Primer
(F):5'- CTGAGCCTGAGTGAGCAGTG -3'
(R):5'- TCTGCACTGAGGCTGGACATC -3'
|
Posted On |
2018-06-22 |