Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00835:Gsg1'

12653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsg1

Ensembl Gene

ENSMUSG00000030206

Gene Name

germ cell associated 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

135237326-135254351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135244092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 103 (M103K)

Ref Sequence

ENSEMBL: ENSMUSP00000107540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087729] [ENSMUST00000111909] [ENSMUST00000111910] [ENSMUST00000111911] [ENSMUST00000111916]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087729
AA Change: M106K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085022
Gene: ENSMUSG00000030206
AA Change: M106K

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

possibly damaging
Transcript: ENSMUST00000111909
AA Change: M103K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107540
Gene: ENSMUSG00000030206
AA Change: M103K

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: M103K

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107541
Gene: ENSMUSG00000030206
AA Change: M103K

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: M103K

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107542
Gene: ENSMUSG00000030206
AA Change: M103K

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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358	F192L	probably benign	Het
Arnt	A	G	3: 95,490,340	D541G	probably damaging	Het
AU040320	A	G	4: 126,757,071		probably null	Het
Cep290	A	T	10: 100,563,380	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,010,648	R46H	probably damaging	Het
Crlf3	T	C	11: 80,047,675	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726	G90S	probably damaging	Het
Glra3	A	G	8: 55,940,977		probably benign	Het
Gpatch8	C	A	11: 102,478,549	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,733,570	S993C	probably damaging	Het
Il12rb2	A	T	6: 67,360,567	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504	D174G	probably damaging	Het
Krt82	A	T	15: 101,543,378	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632		probably benign	Het
Sirpa	G	A	2: 129,609,183	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302	H475N	probably benign	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Spata16	A	T	3: 26,924,262	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846		probably benign	Het
Thsd7a	A	C	6: 12,554,934	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890		probably benign	Het
Vps13d	A	T	4: 145,160,652	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524		probably null	Het
Zfp507	G	T	7: 35,776,038	H917N	probably damaging	Het

Other mutations in Gsg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Gsg1	APN	6	135244350	missense	possibly damaging	0.95
PIT4514001:Gsg1	UTSW	6	135237576	missense	probably benign
PIT4585001:Gsg1	UTSW	6	135237560	missense	probably benign
R2180:Gsg1	UTSW	6	135240145	missense	probably damaging	1.00
R3522:Gsg1	UTSW	6	135241253	missense	probably damaging	1.00
R4735:Gsg1	UTSW	6	135237407	missense	possibly damaging	0.95
R5183:Gsg1	UTSW	6	135241370	missense	probably damaging	1.00
R5778:Gsg1	UTSW	6	135244350	missense	possibly damaging	0.95
R6226:Gsg1	UTSW	6	135240112	missense	probably damaging	1.00
R6739:Gsg1	UTSW	6	135237614	missense	probably damaging	1.00
R6890:Gsg1	UTSW	6	135237420	missense	probably benign	0.00
R7486:Gsg1	UTSW	6	135237429	missense	probably benign	0.09
R8300:Gsg1	UTSW	6	135237582	missense	probably benign

Posted On

2012-12-06