Incidental Mutation 'R7627:Gse1'
| ID |
589499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R7627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 121299516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 849
(P849T)
|
| 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: P849T
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: P849T
| 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: P839T
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: P839T
| 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: P836T
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: P836T
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
T |
A |
14: 34,234,055 (GRCm39) |
I79L |
unknown |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Acvrl1 |
G |
A |
15: 101,033,747 (GRCm39) |
R143Q |
probably benign |
Het |
| Adam22 |
A |
G |
5: 8,417,933 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,690 (GRCm39) |
I2054T |
possibly damaging |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
A |
5: 31,217,508 (GRCm39) |
L354Q |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,253,698 (GRCm39) |
C184S |
unknown |
Het |
| Ccl8 |
A |
G |
11: 82,006,865 (GRCm39) |
D26G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,569,097 (GRCm39) |
Y248C |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,840,665 (GRCm39) |
Y271* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,519,500 (GRCm39) |
N695S |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,156,140 (GRCm39) |
C234R |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,101,111 (GRCm39) |
D2758E |
probably benign |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,919 (GRCm39) |
T869S |
probably benign |
Het |
| Foxn4 |
G |
T |
5: 114,398,495 (GRCm39) |
P175H |
possibly damaging |
Het |
| Gbp5 |
T |
G |
3: 142,206,319 (GRCm39) |
M1R |
probably null |
Het |
| Glp2r |
G |
T |
11: 67,637,589 (GRCm39) |
L30I |
unknown |
Het |
| Gls |
A |
T |
1: 52,205,425 (GRCm39) |
D639E |
probably benign |
Het |
| Gm5145 |
G |
T |
17: 20,790,654 (GRCm39) |
E11* |
probably null |
Het |
| Gm9772 |
T |
A |
17: 22,226,160 (GRCm39) |
K41N |
probably damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,746 (GRCm39) |
D133V |
|
Het |
| H2ac15 |
C |
A |
13: 21,937,916 (GRCm39) |
V28L |
probably benign |
Het |
| Hoxb9 |
A |
G |
11: 96,165,521 (GRCm39) |
T197A |
probably damaging |
Het |
| Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
| Leng9 |
A |
G |
7: 4,151,617 (GRCm39) |
L353P |
probably damaging |
Het |
| Mamdc2 |
A |
T |
19: 23,288,355 (GRCm39) |
M561K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,225 (GRCm39) |
V395A |
probably damaging |
Het |
| Mrpl32 |
G |
A |
13: 14,787,498 (GRCm39) |
R36C |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,419,107 (GRCm39) |
Y123* |
probably null |
Het |
| Or7e168 |
A |
G |
9: 19,719,947 (GRCm39) |
D111G |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,290,873 (GRCm39) |
D205E |
probably benign |
Het |
| Pdlim2 |
T |
C |
14: 70,408,924 (GRCm39) |
D151G |
probably benign |
Het |
| Pdxp |
T |
C |
15: 78,798,339 (GRCm39) |
V57A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,594 (GRCm39) |
E2781V |
probably damaging |
Het |
| Prr7 |
GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC |
GCGCCGCCGCAC |
13: 55,620,147 (GRCm39) |
|
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,402,948 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,776,213 (GRCm39) |
V1108A |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,686,104 (GRCm39) |
H276R |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,690,271 (GRCm39) |
V161I |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,032,944 (GRCm39) |
D1000E |
probably damaging |
Het |
| Sva |
C |
A |
6: 42,019,598 (GRCm39) |
Q153K |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,365 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Zfp160 |
T |
C |
17: 21,247,270 (GRCm39) |
S607P |
probably damaging |
Het |
| Zfp82 |
C |
A |
7: 29,756,147 (GRCm39) |
G312W |
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 |
|
|
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'- GTGGCTTCACACTCCGTTTG -3'
(R):5'- CATGTGCCAGAGTAGAGTGTGAC -3'
Sequencing Primer
(F):5'- GTTTTCTTTCCCGATCTAGAAGCTAG -3'
(R):5'- AGGCCAACTCTGCAGCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation