Incidental Mutation 'R8886:Gse1'
| ID |
677335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
068691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R8886 (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 121297470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 561
(R561Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
|
| AlphaFold |
Q3U3C9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034279
AA Change: R561Q
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: R561Q
| 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 |
unknown
Transcript: ENSMUST00000118136
AA Change: R551Q
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: R551Q
| 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 |
unknown
Transcript: ENSMUST00000120493
AA Change: R548Q
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: R548Q
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
A |
1: 151,882,349 (GRCm39) |
N14I |
possibly damaging |
Het |
| 1700066M21Rik |
T |
A |
1: 57,422,008 (GRCm39) |
I128N |
probably damaging |
Het |
| 4930407I10Rik |
G |
T |
15: 81,950,051 (GRCm39) |
S1316I |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,546,420 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,150,928 (GRCm39) |
S1102P |
probably damaging |
Het |
| BC061237 |
A |
C |
14: 44,741,691 (GRCm39) |
I145L |
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,786 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,319,806 (GRCm39) |
G393S |
|
Het |
| Ccdc112 |
C |
T |
18: 46,444,826 (GRCm39) |
G18R |
unknown |
Het |
| Cryzl1 |
T |
A |
16: 91,492,188 (GRCm39) |
T213S |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,774,785 (GRCm39) |
L123* |
probably null |
Het |
| Dmpk |
C |
A |
7: 18,825,886 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,943,840 (GRCm39) |
V1932E |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,200,126 (GRCm39) |
|
probably benign |
Het |
| Eif4a3 |
A |
G |
11: 119,179,705 (GRCm39) |
Y361H |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,312,862 (GRCm39) |
E336G |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,453,628 (GRCm39) |
S305G |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,553,843 (GRCm39) |
I1615F |
probably benign |
Het |
| Igkv9-129 |
T |
A |
6: 67,817,221 (GRCm39) |
Y108* |
probably null |
Het |
| Igsf10 |
T |
A |
3: 59,237,410 (GRCm39) |
T924S |
probably benign |
Het |
| Itgb6 |
A |
T |
2: 60,458,324 (GRCm39) |
C476* |
probably null |
Het |
| Itih4 |
C |
T |
14: 30,617,482 (GRCm39) |
Q601* |
probably null |
Het |
| Itpk1 |
G |
A |
12: 102,550,604 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,609,171 (GRCm39) |
E92K |
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,187,542 (GRCm39) |
L274H |
possibly damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,869,192 (GRCm39) |
M122K |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,437,221 (GRCm39) |
I314T |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 27,245,157 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
T |
C |
6: 145,363,152 (GRCm39) |
T270A |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mt2 |
A |
T |
8: 94,899,476 (GRCm39) |
M1L |
probably damaging |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,052,278 (GRCm39) |
I396T |
|
Het |
| Naprt |
T |
C |
15: 75,765,433 (GRCm39) |
T136A |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,966,148 (GRCm39) |
N438S |
probably damaging |
Het |
| Nckap1 |
C |
A |
2: 80,339,055 (GRCm39) |
|
probably null |
Het |
| Nop56 |
G |
T |
2: 130,117,902 (GRCm39) |
R126L |
probably damaging |
Het |
| Nts |
C |
T |
10: 102,320,868 (GRCm39) |
A74T |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or8b49 |
T |
G |
9: 38,506,446 (GRCm39) |
F310V |
possibly damaging |
Het |
| Pcp2 |
A |
G |
8: 3,675,208 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
T |
C |
5: 75,343,734 (GRCm39) |
S752P |
probably benign |
Het |
| Pign |
C |
T |
1: 105,512,779 (GRCm39) |
V635I |
probably benign |
Het |
| Plekhg3 |
C |
A |
12: 76,611,748 (GRCm39) |
H342Q |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,386,466 (GRCm39) |
I177N |
probably damaging |
Het |
| Psmd5 |
A |
G |
2: 34,747,755 (GRCm39) |
F301L |
possibly damaging |
Het |
| Rad52 |
C |
T |
6: 119,890,041 (GRCm39) |
R56C |
probably damaging |
Het |
| Rbm20 |
A |
T |
19: 53,801,767 (GRCm39) |
I92L |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,364,264 (GRCm39) |
D4522G |
|
Het |
| Robo3 |
T |
C |
9: 37,328,768 (GRCm39) |
E1276G |
probably damaging |
Het |
| Rxrb |
T |
C |
17: 34,256,428 (GRCm39) |
F500L |
probably damaging |
Het |
| Sar1a |
A |
T |
10: 61,522,172 (GRCm39) |
N88I |
possibly damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,276 (GRCm39) |
D353G |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,595,946 (GRCm39) |
|
probably benign |
Het |
| Ski |
A |
T |
4: 155,244,016 (GRCm39) |
L498Q |
probably null |
Het |
| Spocd1 |
T |
A |
4: 129,845,631 (GRCm39) |
M497K |
|
Het |
| Sspo |
A |
G |
6: 48,458,201 (GRCm39) |
E3299G |
possibly damaging |
Het |
| St14 |
C |
A |
9: 31,008,420 (GRCm39) |
V507F |
possibly damaging |
Het |
| Tcf24 |
G |
A |
1: 10,037,388 (GRCm39) |
T108I |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,278,359 (GRCm39) |
T1050A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,205,473 (GRCm39) |
D291G |
probably benign |
Het |
| Tubgcp2 |
G |
T |
7: 139,584,882 (GRCm39) |
R518S |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,358 (GRCm39) |
Y222C |
probably damaging |
Het |
| Unc5c |
C |
G |
3: 141,509,581 (GRCm39) |
A687G |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,700,714 (GRCm39) |
D1103G |
probably damaging |
Het |
| Vmn1r83 |
A |
C |
7: 12,055,843 (GRCm39) |
D71E |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,194,892 (GRCm39) |
I9F |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,409,862 (GRCm39) |
Q160R |
probably null |
Het |
| Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
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 |
|
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'- CTCCAGGAAGAAATGGCTCTCC -3'
(R):5'- TCTGAGCAATAAACTCGCTCC -3'
Sequencing Primer
(F):5'- TCTCCTAGCGGGAAGGCATG -3'
(R):5'- CTCAAAAGCAGTCGGGTGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation