Incidental Mutation 'R1742:Gse1'
ID |
200428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gse1
|
Ensembl Gene |
ENSMUSG00000031822 |
Gene Name |
genetic suppressor element 1, coiled-coil protein |
Synonyms |
|
MMRRC Submission |
039774-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R1742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120955233-121308122 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121293689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 205
(V205E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034279]
[ENSMUST00000118136]
[ENSMUST00000120493]
[ENSMUST00000127664]
|
AlphaFold |
Q3U3C9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034279
AA Change: V218E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034279 Gene: ENSMUSG00000031822 AA Change: V218E
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 |
probably damaging
Transcript: ENSMUST00000118136
AA Change: V208E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112981 Gene: ENSMUSG00000031822 AA Change: V208E
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 |
probably damaging
Transcript: ENSMUST00000120493
AA Change: V205E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113577 Gene: ENSMUSG00000031822 AA Change: V205E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141113
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147327
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211997
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
C |
A |
18: 36,758,318 (GRCm39) |
A1004E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,708,900 (GRCm39) |
S1071G |
probably damaging |
Het |
Arhgef5 |
T |
A |
6: 43,257,133 (GRCm39) |
I1228N |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Bptf |
A |
G |
11: 107,001,777 (GRCm39) |
V445A |
probably damaging |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
Ccdc171 |
T |
A |
4: 83,599,521 (GRCm39) |
S779T |
probably damaging |
Het |
Ccdc54 |
T |
C |
16: 50,410,601 (GRCm39) |
K222E |
possibly damaging |
Het |
Cebpe |
A |
G |
14: 54,949,057 (GRCm39) |
V120A |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,507,647 (GRCm39) |
|
probably null |
Het |
Col22a1 |
C |
T |
15: 71,673,762 (GRCm39) |
G985S |
unknown |
Het |
Col6a3 |
T |
A |
1: 90,741,516 (GRCm39) |
I639F |
probably damaging |
Het |
Cryga |
C |
A |
1: 65,142,280 (GRCm39) |
V38L |
probably benign |
Het |
Dll3 |
T |
C |
7: 27,993,848 (GRCm39) |
T530A |
probably benign |
Het |
Dnaaf9 |
A |
T |
2: 130,582,315 (GRCm39) |
|
probably null |
Het |
Dnah7a |
G |
A |
1: 53,495,843 (GRCm39) |
P3205S |
probably benign |
Het |
Dpp10 |
T |
A |
1: 123,372,935 (GRCm39) |
Y224F |
probably damaging |
Het |
Eif1ad10 |
C |
T |
12: 88,216,453 (GRCm39) |
D140N |
unknown |
Het |
Fcrl2 |
T |
C |
3: 87,166,350 (GRCm39) |
T142A |
possibly damaging |
Het |
Fyttd1 |
C |
T |
16: 32,725,923 (GRCm39) |
R175* |
probably null |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Gpr33 |
T |
C |
12: 52,071,045 (GRCm39) |
|
probably null |
Het |
Herc4 |
C |
A |
10: 63,123,728 (GRCm39) |
N461K |
probably benign |
Het |
Ifi206 |
G |
A |
1: 173,309,537 (GRCm39) |
T153I |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,025,773 (GRCm39) |
I341V |
probably benign |
Het |
Itsn1 |
T |
G |
16: 91,613,847 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
T |
A |
14: 20,191,925 (GRCm39) |
Y412F |
probably benign |
Het |
Lemd1 |
T |
A |
1: 132,156,036 (GRCm39) |
I26K |
probably damaging |
Het |
Lipc |
A |
T |
9: 70,727,811 (GRCm39) |
L12Q |
probably damaging |
Het |
Lrrtm1 |
C |
A |
6: 77,221,074 (GRCm39) |
P177Q |
probably damaging |
Het |
Mcph1 |
G |
A |
8: 18,657,379 (GRCm39) |
G73R |
probably benign |
Het |
Msantd5f6 |
T |
C |
4: 73,319,447 (GRCm39) |
D99G |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,037,908 (GRCm39) |
L899Q |
probably damaging |
Het |
Myo18a |
G |
T |
11: 77,732,293 (GRCm39) |
R822L |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,605,074 (GRCm39) |
T1000A |
probably benign |
Het |
Nox4 |
T |
C |
7: 86,945,026 (GRCm39) |
V94A |
possibly damaging |
Het |
Or10ag53 |
T |
A |
2: 87,083,122 (GRCm39) |
N280K |
probably benign |
Het |
Or4c123 |
G |
T |
2: 89,126,768 (GRCm39) |
P282H |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
Oxr1 |
T |
C |
15: 41,713,955 (GRCm39) |
L679P |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,619,629 (GRCm39) |
I473T |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,107,046 (GRCm39) |
E165D |
probably damaging |
Het |
Pgpep1l |
A |
T |
7: 67,886,802 (GRCm39) |
V169D |
probably damaging |
Het |
Phf12 |
C |
T |
11: 77,900,312 (GRCm39) |
T136I |
probably benign |
Het |
Pif1 |
T |
A |
9: 65,495,132 (GRCm39) |
M14K |
probably benign |
Het |
Pigr |
A |
G |
1: 130,772,823 (GRCm39) |
E347G |
probably damaging |
Het |
Plekha3 |
G |
A |
2: 76,513,223 (GRCm39) |
E103K |
possibly damaging |
Het |
Ptgs2 |
A |
G |
1: 149,980,150 (GRCm39) |
I363V |
probably damaging |
Het |
Rasl11a |
T |
A |
5: 146,783,805 (GRCm39) |
|
probably null |
Het |
Recql |
T |
C |
6: 142,310,298 (GRCm39) |
T511A |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 34,156,197 (GRCm39) |
|
probably null |
Het |
Rpp25l |
T |
C |
4: 41,712,763 (GRCm39) |
Y4C |
probably damaging |
Het |
Sass6 |
T |
G |
3: 116,401,126 (GRCm39) |
C156G |
probably damaging |
Het |
Sgta |
T |
G |
10: 80,882,111 (GRCm39) |
N288T |
probably damaging |
Het |
Slco1a4 |
T |
A |
6: 141,770,771 (GRCm39) |
T282S |
probably benign |
Het |
Smad4 |
T |
C |
18: 73,808,968 (GRCm39) |
R100G |
probably damaging |
Het |
Sox8 |
C |
T |
17: 25,786,915 (GRCm39) |
V263M |
probably damaging |
Het |
Sp8 |
A |
G |
12: 118,813,552 (GRCm39) |
H469R |
probably benign |
Het |
Spata1 |
A |
T |
3: 146,175,378 (GRCm39) |
|
probably null |
Het |
Taar7a |
G |
A |
10: 23,869,117 (GRCm39) |
S88F |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,853,661 (GRCm39) |
L749S |
probably damaging |
Het |
Tollip |
C |
A |
7: 141,446,592 (GRCm39) |
R19L |
probably damaging |
Het |
Tox2 |
G |
A |
2: 163,067,446 (GRCm39) |
R55H |
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,177,636 (GRCm39) |
E456G |
possibly damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,444,543 (GRCm39) |
N65K |
probably benign |
Het |
Vwf |
T |
C |
6: 125,644,513 (GRCm39) |
M2456T |
probably benign |
Het |
Zfp526 |
A |
G |
7: 24,923,939 (GRCm39) |
N66S |
possibly damaging |
Het |
Zic1 |
T |
C |
9: 91,243,629 (GRCm39) |
Y446C |
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 |
|
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'- ACCTGAGAGTTTGCACTGGCAGAG -3'
(R):5'- ACAGATTAGCACACAGGGCAGC -3'
Sequencing Primer
(F):5'- TGAGACAGACTTATCAGGTGTCC -3'
(R):5'- GGACGCCTCACCTGAAG -3'
|
Posted On |
2014-05-23 |