Incidental Mutation 'R5980:Gse1'
| ID |
481388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
044162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5980 (G1)
|
| Quality Score |
97.0078 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 120956376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127664]
[ENSMUST00000180448]
|
| AlphaFold |
Q3U3C9 |
| 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 |
unknown
Transcript: ENSMUST00000180448
AA Change: L289R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183235
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,544,018 (GRCm39) |
N508D |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,354,362 (GRCm39) |
|
probably benign |
Het |
| Apol6 |
A |
T |
15: 76,935,219 (GRCm39) |
T163S |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,247,095 (GRCm39) |
T33A |
probably benign |
Het |
| Atg7 |
C |
A |
6: 114,657,197 (GRCm39) |
F132L |
possibly damaging |
Het |
| Cep104 |
C |
A |
4: 154,072,930 (GRCm39) |
A396E |
probably benign |
Het |
| Cers4 |
T |
A |
8: 4,568,269 (GRCm39) |
C107* |
probably null |
Het |
| Cntn6 |
T |
C |
6: 104,825,093 (GRCm39) |
S878P |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,158,705 (GRCm39) |
K633E |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,972 (GRCm39) |
I2592K |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,881,595 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,157,324 (GRCm39) |
C2320R |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,928,351 (GRCm39) |
|
probably null |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,315,295 (GRCm39) |
H708Q |
probably benign |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,573 (GRCm39) |
S10P |
probably damaging |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,009 (GRCm39) |
V5A |
probably benign |
Het |
| Irgq |
G |
A |
7: 24,232,770 (GRCm39) |
G204S |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,234,463 (GRCm39) |
K681R |
possibly damaging |
Het |
| Kcnv1 |
C |
A |
15: 44,972,810 (GRCm39) |
V358L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,349 (GRCm39) |
S275T |
probably damaging |
Het |
| Lysmd1 |
A |
T |
3: 95,045,219 (GRCm39) |
D155V |
probably damaging |
Het |
| Magel2 |
A |
T |
7: 62,030,344 (GRCm39) |
I1083F |
unknown |
Het |
| Mta3 |
T |
A |
17: 84,015,834 (GRCm39) |
V12D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,494,977 (GRCm39) |
I423T |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,616,887 (GRCm39) |
Y16H |
possibly damaging |
Het |
| Mycbp |
G |
A |
4: 123,804,889 (GRCm39) |
V91I |
probably benign |
Het |
| Ngly1 |
A |
C |
14: 16,270,509 (GRCm38) |
Q72P |
possibly damaging |
Het |
| Nol4 |
T |
A |
18: 23,085,258 (GRCm39) |
Q52L |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,416 (GRCm39) |
V808A |
probably damaging |
Het |
| Or10p22 |
A |
G |
10: 128,826,309 (GRCm39) |
H176R |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,509 (GRCm39) |
F238Y |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,141 (GRCm39) |
L207* |
probably null |
Het |
| Pate10 |
A |
C |
9: 35,652,911 (GRCm39) |
D51A |
probably damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,016,046 (GRCm39) |
D869E |
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 22,167,546 (GRCm39) |
S606P |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,613,770 (GRCm39) |
R517* |
probably null |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,401 (GRCm39) |
|
probably null |
Het |
| Saraf |
T |
A |
8: 34,632,541 (GRCm39) |
F207I |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,506,628 (GRCm39) |
D874G |
probably damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,190,411 (GRCm39) |
L14M |
unknown |
Het |
| Sidt1 |
A |
T |
16: 44,083,675 (GRCm39) |
C485* |
probably null |
Het |
| Sptbn4 |
A |
G |
7: 27,071,596 (GRCm39) |
Y1618H |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,662,716 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,310,703 (GRCm39) |
A206T |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,662 (GRCm39) |
I820F |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,511,520 (GRCm39) |
Y433H |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,328,038 (GRCm39) |
V305A |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,480 (GRCm39) |
Y163F |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,626 (GRCm39) |
H291Q |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,661,624 (GRCm39) |
I457V |
probably benign |
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 |
|
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'- CTCAAGAGGCCGCATCAGTG -3'
(R):5'- AACCTCTTCCCTAGGGAGTCTC -3'
Sequencing Primer
(F):5'- ACTCCAGCAAGTCCGGAG -3'
(R):5'- TAGGGAGTCTCCGGGCCTTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation