Incidental Mutation 'R1649:Gse1'
ID |
174104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gse1
|
Ensembl Gene |
ENSMUSG00000031822 |
Gene Name |
genetic suppressor element 1, coiled-coil protein |
Synonyms |
|
MMRRC Submission |
039685-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R1649 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 121305254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(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: L1195P
|
SMART Domains |
Protein: ENSMUSP00000034279 Gene: ENSMUSG00000031822 AA Change: L1195P
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: L1185P
|
SMART Domains |
Protein: ENSMUSP00000112981 Gene: ENSMUSG00000031822 AA Change: L1185P
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: L1182P
|
SMART Domains |
Protein: ENSMUSP00000113577 Gene: ENSMUSG00000031822 AA Change: L1182P
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 |
noncoding transcript
Transcript: ENSMUST00000126094
|
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: ENSMUST00000146526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155609
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141113
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 88.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1a1 |
T |
A |
4: 116,495,217 (GRCm39) |
I261F |
probably damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,541,371 (GRCm39) |
V255A |
probably benign |
Het |
Ambn |
T |
A |
5: 88,612,340 (GRCm39) |
M172K |
probably benign |
Het |
Arhgef18 |
A |
G |
8: 3,439,094 (GRCm39) |
|
probably benign |
Het |
BC034090 |
T |
C |
1: 155,101,319 (GRCm39) |
H315R |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,959,122 (GRCm39) |
D707E |
probably benign |
Het |
C6 |
T |
C |
15: 4,764,739 (GRCm39) |
L145P |
possibly damaging |
Het |
Cav3 |
T |
A |
6: 112,449,207 (GRCm39) |
L75Q |
probably damaging |
Het |
Cavin2 |
T |
A |
1: 51,339,939 (GRCm39) |
D205E |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,811,242 (GRCm39) |
T423A |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,857,648 (GRCm39) |
H272Q |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,659,229 (GRCm39) |
Q63L |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,460,228 (GRCm39) |
|
probably benign |
Het |
Cramp1 |
G |
T |
17: 25,202,217 (GRCm39) |
H422N |
probably damaging |
Het |
Csn1s2b |
A |
T |
5: 87,966,943 (GRCm39) |
M71L |
probably benign |
Het |
D630045J12Rik |
C |
A |
6: 38,158,366 (GRCm39) |
A1104S |
probably damaging |
Het |
D930048N14Rik |
A |
G |
11: 51,545,663 (GRCm39) |
|
probably benign |
Het |
Ern2 |
G |
A |
7: 121,776,623 (GRCm39) |
P366S |
probably damaging |
Het |
Gm1527 |
T |
C |
3: 28,952,880 (GRCm39) |
I60T |
probably damaging |
Het |
Ildr1 |
T |
C |
16: 36,528,681 (GRCm39) |
L42P |
probably damaging |
Het |
Itih2 |
G |
A |
2: 10,110,546 (GRCm39) |
T515I |
probably benign |
Het |
Jcad |
C |
A |
18: 4,673,309 (GRCm39) |
P357Q |
probably damaging |
Het |
Kitl |
A |
G |
10: 99,899,976 (GRCm39) |
T94A |
probably benign |
Het |
Klri1 |
C |
T |
6: 129,675,204 (GRCm39) |
M185I |
probably benign |
Het |
Lsamp |
A |
T |
16: 41,775,661 (GRCm39) |
M171L |
probably benign |
Het |
Macf1 |
T |
G |
4: 123,377,846 (GRCm39) |
I1460L |
probably damaging |
Het |
Map1b |
C |
G |
13: 99,652,986 (GRCm39) |
V4L |
probably benign |
Het |
Mboat7 |
A |
T |
7: 3,688,817 (GRCm39) |
V237D |
probably benign |
Het |
Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
Nipsnap2 |
T |
A |
5: 129,830,301 (GRCm39) |
I205N |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,011,984 (GRCm39) |
V264A |
probably damaging |
Het |
Oacyl |
C |
T |
18: 65,883,167 (GRCm39) |
T582I |
probably damaging |
Het |
Olfm1 |
A |
T |
2: 28,119,279 (GRCm39) |
T333S |
possibly damaging |
Het |
Olfm4 |
G |
A |
14: 80,249,422 (GRCm39) |
E180K |
probably damaging |
Het |
Or14j6 |
T |
C |
17: 38,215,060 (GRCm39) |
F208L |
probably benign |
Het |
Or2ad1 |
A |
T |
13: 21,326,912 (GRCm39) |
L105Q |
probably damaging |
Het |
Or8g17 |
T |
G |
9: 38,930,776 (GRCm39) |
Q20H |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,827,885 (GRCm39) |
V212E |
possibly damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,648,666 (GRCm39) |
N598K |
probably damaging |
Het |
Piezo2 |
C |
A |
18: 63,250,743 (GRCm39) |
W452L |
probably benign |
Het |
Plec |
C |
A |
15: 76,090,011 (GRCm39) |
A110S |
possibly damaging |
Het |
Popdc3 |
T |
C |
10: 45,191,320 (GRCm39) |
Y144H |
probably damaging |
Het |
Ptgdr |
T |
C |
14: 45,095,959 (GRCm39) |
H251R |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,421,015 (GRCm39) |
Y246* |
probably null |
Het |
Pyroxd2 |
T |
C |
19: 42,726,573 (GRCm39) |
D247G |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,695,889 (GRCm39) |
E1418G |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,772 (GRCm39) |
T198A |
probably benign |
Het |
Sec16a |
A |
T |
2: 26,315,536 (GRCm39) |
V1767D |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,774,819 (GRCm39) |
N119D |
probably benign |
Het |
Serpina5 |
A |
T |
12: 104,071,484 (GRCm39) |
T364S |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Sh3bp2 |
C |
T |
5: 34,716,348 (GRCm39) |
A253V |
possibly damaging |
Het |
Slc6a5 |
G |
T |
7: 49,586,010 (GRCm39) |
G443C |
probably damaging |
Het |
Spag9 |
T |
A |
11: 93,999,278 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
T |
C |
11: 30,087,301 (GRCm39) |
E1033G |
probably damaging |
Het |
Timm17a |
T |
G |
1: 135,237,540 (GRCm39) |
Q39P |
probably damaging |
Het |
Tmem26 |
A |
T |
10: 68,587,103 (GRCm39) |
T184S |
probably damaging |
Het |
Tpi1 |
A |
T |
6: 124,789,891 (GRCm39) |
|
probably null |
Het |
Tssk5 |
T |
C |
15: 76,258,003 (GRCm39) |
Y118C |
possibly damaging |
Het |
Ttll4 |
T |
A |
1: 74,736,629 (GRCm39) |
L1118Q |
possibly damaging |
Het |
Ttll5 |
T |
A |
12: 85,969,788 (GRCm39) |
L691Q |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,623 (GRCm39) |
H126Q |
possibly damaging |
Het |
Zfp518b |
A |
T |
5: 38,829,224 (GRCm39) |
V927E |
probably damaging |
Het |
Zfp618 |
T |
C |
4: 63,013,774 (GRCm39) |
F213S |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,287,668 (GRCm39) |
N406K |
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 |
|
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 |
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'- AGGCAGCAGTACACACTGGTTCTC -3'
(R):5'- TCGTGGCACAGCTATACCAGAAAC -3'
Sequencing Primer
(F):5'- CTGGGAGCCTGTGGTGC -3'
(R):5'- GGCACGTTCTCAATTTGTAAGC -3'
|
Posted On |
2014-04-24 |