Incidental Mutation 'R9398:Gse1'
| ID |
710949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gse1
|
| Ensembl Gene |
ENSMUSG00000031822 |
| Gene Name |
genetic suppressor element 1, coiled-coil protein |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R9398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121303074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1072
(N1072D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034278]
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
|
| AlphaFold |
Q3U3C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034278
|
| SMART Domains |
Protein: ENSMUSP00000034278
Gene: ENSMUSG00000031821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sld5
|
42 |
153 |
9.6e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000034279
AA Change: N1072D
|
| SMART Domains |
Protein: ENSMUSP00000034279
Gene: ENSMUSG00000031822
AA Change: N1072D
| 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: N1062D
|
| SMART Domains |
Protein: ENSMUSP00000112981
Gene: ENSMUSG00000031822
AA Change: N1062D
| 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: N1059D
|
| SMART Domains |
Protein: ENSMUSP00000113577
Gene: ENSMUSG00000031822
AA Change: N1059D
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,034,924 (GRCm39) |
K228* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,276 (GRCm39) |
D183G |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,216,935 (GRCm39) |
Y134H |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,073 (GRCm39) |
T217A |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,522,075 (GRCm39) |
T89I |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 65,051,648 (GRCm39) |
R3W |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,651,825 (GRCm39) |
I1062T |
probably benign |
Het |
| Ctss |
T |
C |
3: 95,454,258 (GRCm39) |
F270S |
possibly damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,436,912 (GRCm39) |
K69E |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,189,657 (GRCm39) |
G328D |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 134,774,228 (GRCm39) |
T1852M |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,272,356 (GRCm39) |
Y1346H |
probably benign |
Het |
| Gprin1 |
G |
T |
13: 54,887,383 (GRCm39) |
T297N |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,833,381 (GRCm39) |
F187S |
probably damaging |
Het |
| Gtf3c6 |
G |
A |
10: 40,133,520 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,263,562 (GRCm39) |
T897S |
probably benign |
Het |
| Igsf21 |
T |
A |
4: 139,973,762 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,605 (GRCm39) |
I757V |
probably damaging |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Lzts2 |
T |
G |
19: 45,013,208 (GRCm39) |
C374W |
unknown |
Het |
| Mapk10 |
A |
T |
5: 103,061,152 (GRCm39) |
S462T |
probably damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,755,462 (GRCm39) |
D293E |
possibly damaging |
Het |
| Nf1 |
T |
G |
11: 79,438,018 (GRCm39) |
H109Q |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,783,435 (GRCm39) |
L926P |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,009,668 (GRCm39) |
D532N |
probably damaging |
Het |
| Olfm4 |
A |
T |
14: 80,249,249 (GRCm39) |
Y122F |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,487 (GRCm39) |
T241S |
probably damaging |
Het |
| Or52r1 |
A |
G |
7: 102,537,000 (GRCm39) |
M120T |
probably damaging |
Het |
| Or56a4 |
A |
T |
7: 104,806,006 (GRCm39) |
Y294* |
probably null |
Het |
| Or5g24-ps1 |
T |
C |
2: 85,464,367 (GRCm39) |
V198A |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,123,035 (GRCm39) |
T41A |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,160 (GRCm39) |
L61P |
possibly damaging |
Het |
| P2rx2 |
A |
T |
5: 110,488,138 (GRCm39) |
M472K |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,354,941 (GRCm39) |
K487E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,122 (GRCm39) |
V1108A |
probably benign |
Het |
| Polq |
A |
G |
16: 36,881,394 (GRCm39) |
N1186S |
probably benign |
Het |
| Por |
T |
A |
5: 135,754,597 (GRCm39) |
W6R |
unknown |
Het |
| Prex2 |
G |
A |
1: 11,207,028 (GRCm39) |
V529I |
probably benign |
Het |
| Rgs6 |
T |
G |
12: 82,698,615 (GRCm39) |
S5A |
probably benign |
Het |
| Rp9 |
G |
T |
9: 22,360,082 (GRCm39) |
S171* |
probably null |
Het |
| Sec11c |
T |
A |
18: 65,942,568 (GRCm39) |
I47N |
possibly damaging |
Het |
| Sh2b1 |
GCCACGGGGACCAGCTC |
GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC |
7: 126,066,756 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GACCAGCTCAGCCACGGG |
GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG |
7: 126,066,746 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,940,511 (GRCm39) |
S137P |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,213,651 (GRCm39) |
M692T |
possibly damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,713,954 (GRCm39) |
Q30L |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,322,243 (GRCm39) |
D15G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,066,429 (GRCm39) |
S2344G |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,404 (GRCm39) |
Y1824* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,777,985 (GRCm39) |
T280A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,869,934 (GRCm39) |
R342G |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,056 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,261 (GRCm39) |
M205T |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,896,956 (GRCm39) |
Y321* |
probably null |
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 |
|
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 |
|
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'- GAAGTGTCAGCTTTGGCCAG -3'
(R):5'- TCCTGGTAAGCTTCAAAGATTGC -3'
Sequencing Primer
(F):5'- AGCGTTCAGGTGATGCCAC -3'
(R):5'- GATTGCCTCAATCCCTTGCCAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation