Incidental Mutation 'R6890:Gsg1'
| ID |
537152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsg1
|
| Ensembl Gene |
ENSMUSG00000030206 |
| Gene Name |
germ cell associated 1 |
| Synonyms |
|
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
135214327-135231334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135214418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 320
(V320I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087729]
[ENSMUST00000111909]
[ENSMUST00000111910]
[ENSMUST00000111911]
[ENSMUST00000111915]
[ENSMUST00000111916]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087729
AA Change: V364I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085022
Gene: ENSMUSG00000030206
AA Change: V364I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSG-1
|
11 |
125 |
2e-44 |
PFAM |
|
Pfam:PMP22_Claudin
|
169 |
270 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111909
AA Change: V320I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000107540
Gene: ENSMUSG00000030206
AA Change: V320I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSG-1
|
5 |
123 |
3.1e-44 |
PFAM |
|
Pfam:PMP22_Claudin
|
12 |
226 |
4.5e-11 |
PFAM |
|
Pfam:Claudin_2
|
20 |
226 |
8.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111910
AA Change: V361I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107541
Gene: ENSMUSG00000030206
AA Change: V361I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSG-1
|
5 |
123 |
5.2e-44 |
PFAM |
|
Pfam:Claudin_2
|
20 |
267 |
1.5e-9 |
PFAM |
|
Pfam:PMP22_Claudin
|
166 |
267 |
8.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111911
AA Change: V361I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107542
Gene: ENSMUSG00000030206
AA Change: V361I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSG-1
|
5 |
123 |
5.2e-44 |
PFAM |
|
Pfam:Claudin_2
|
20 |
267 |
1.5e-9 |
PFAM |
|
Pfam:PMP22_Claudin
|
166 |
267 |
8.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111915
|
| SMART Domains |
Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111916
|
| SMART Domains |
Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Gsg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Gsg1
|
APN |
6 |
135,221,348 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00835:Gsg1
|
APN |
6 |
135,221,090 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
PIT4514001:Gsg1
|
UTSW |
6 |
135,214,574 (GRCm39) |
missense |
probably benign |
|
|
PIT4585001:Gsg1
|
UTSW |
6 |
135,214,558 (GRCm39) |
missense |
probably benign |
|
|
R2180:Gsg1
|
UTSW |
6 |
135,217,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Gsg1
|
UTSW |
6 |
135,218,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Gsg1
|
UTSW |
6 |
135,214,405 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5183:Gsg1
|
UTSW |
6 |
135,218,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Gsg1
|
UTSW |
6 |
135,221,348 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6226:Gsg1
|
UTSW |
6 |
135,217,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6739:Gsg1
|
UTSW |
6 |
135,214,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Gsg1
|
UTSW |
6 |
135,214,427 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8300:Gsg1
|
UTSW |
6 |
135,214,580 (GRCm39) |
missense |
probably benign |
|
|
R9599:Gsg1
|
UTSW |
6 |
135,217,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTGTAGTCTAGAACCTGC -3'
(R):5'- TGCTGGAGTTCAAGTGCAGG -3'
Sequencing Primer
(F):5'- CGTGTAGTCTAGAACCTGCCTTAAG -3'
(R):5'- AGCACCACCGCTGTTTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation