Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03076:Gsg1l'

417697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsg1l

Ensembl Gene

ENSMUSG00000046182

Gene Name

GSG1-like

Synonyms

G630023A01Rik, C230098I05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03076

Quality Score

Status

Chromosome

Chromosomal Location

125477592-125681583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125522665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 188 (F188L)

Ref Sequence

ENSEMBL: ENSMUSP00000073591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073935]

AlphaFold

D3Z7H4

Predicted Effect

probably benign
Transcript: ENSMUST00000073935
AA Change: F188L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000073591
Gene: ENSMUSG00000046182
AA Change: F188L

Domain	Start	End	E-Value	Type
Pfam:GSG-1	5	122	4.9e-46	PFAM
Pfam:PMP22_Claudin	8	227	8.5e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy2	T	C	12: 36,215,917 (GRCm39)	V39A	probably damaging	Het
Bcl2	A	G	1: 106,471,037 (GRCm39)	V223A	probably benign	Het
Bsn	T	A	9: 107,982,581 (GRCm39)	Y3724F	unknown	Het
Chd8	T	C	14: 52,463,619 (GRCm39)		probably benign	Het
Cyp2a5	T	C	7: 26,535,299 (GRCm39)	V87A	probably damaging	Het
Dnah10	T	C	5: 124,807,226 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,624,327 (GRCm39)	R3652W	probably damaging	Het
Epha5	T	A	5: 84,479,549 (GRCm39)	T152S	probably damaging	Het
Flnb	T	G	14: 7,901,988 (GRCm38)	N950K	probably benign	Het
Fmn1	A	G	2: 113,414,437 (GRCm39)	D1128G	probably damaging	Het
Fndc3a	T	A	14: 72,793,908 (GRCm39)	T922S	possibly damaging	Het
Fsip2	A	T	2: 82,812,482 (GRCm39)	N2934Y	possibly damaging	Het
Gnptab	T	C	10: 88,276,151 (GRCm39)	V1146A	possibly damaging	Het
Kmt2c	C	A	5: 25,504,149 (GRCm39)	E309*	probably null	Het
Krt71	C	T	15: 101,643,032 (GRCm39)	R492H	probably benign	Het
Lama1	T	A	17: 68,023,794 (GRCm39)	V63E	possibly damaging	Het
Lrch3	T	C	16: 32,802,223 (GRCm39)	V58A	possibly damaging	Het
Lrrc8b	T	A	5: 105,629,415 (GRCm39)	L587Q	probably damaging	Het
Lrrtm1	T	C	6: 77,221,568 (GRCm39)	C342R	probably damaging	Het
Mdm1	T	C	10: 117,995,588 (GRCm39)	S541P	possibly damaging	Het
Mdn1	T	A	4: 32,735,564 (GRCm39)	V3410D	probably damaging	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or7e175	T	C	9: 20,049,023 (GRCm39)	S204P	probably benign	Het
Pigt	A	G	2: 164,339,585 (GRCm39)	E36G	probably damaging	Het
Plxnb1	T	A	9: 108,935,970 (GRCm39)	V1120D	probably damaging	Het
Rapgef6	T	C	11: 54,516,793 (GRCm39)	L350P	probably damaging	Het
Rasgef1c	C	A	11: 49,861,073 (GRCm39)	T302K	probably damaging	Het
Riox2	C	A	16: 59,311,575 (GRCm39)	A386D	possibly damaging	Het
Semp2l1	A	G	1: 32,584,626 (GRCm39)	I428T	probably damaging	Het
Slc12a2	T	C	18: 58,059,469 (GRCm39)		probably benign	Het
Trim24	T	A	6: 37,942,567 (GRCm39)	S992R	probably damaging	Het
Trpc3	T	C	3: 36,694,804 (GRCm39)	N717D	probably damaging	Het
Vwa5b1	T	C	4: 138,327,499 (GRCm39)	D359G	probably damaging	Het
Wapl	A	G	14: 34,414,046 (GRCm39)	T303A	probably benign	Het
Zfp128	A	G	7: 12,618,636 (GRCm39)	T45A	possibly damaging	Het
Zfp280d	T	C	9: 72,219,944 (GRCm39)	S240P	probably damaging	Het

Other mutations in Gsg1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Gsg1l	APN	7	125,522,598 (GRCm39)	missense	possibly damaging	0.81
IGL01873:Gsg1l	APN	7	125,557,615 (GRCm39)	missense	probably damaging	1.00
IGL02148:Gsg1l	APN	7	125,522,671 (GRCm39)	missense	possibly damaging	0.82
R0456:Gsg1l	UTSW	7	125,522,682 (GRCm39)	missense	possibly damaging	0.67
R0513:Gsg1l	UTSW	7	125,619,795 (GRCm39)	critical splice donor site	probably null
R1771:Gsg1l	UTSW	7	125,557,745 (GRCm39)	missense	probably damaging	1.00
R1827:Gsg1l	UTSW	7	125,509,369 (GRCm39)	missense	possibly damaging	0.86
R3084:Gsg1l	UTSW	7	125,490,852 (GRCm39)	missense	probably benign	0.36
R3085:Gsg1l	UTSW	7	125,490,852 (GRCm39)	missense	probably benign	0.36
R3086:Gsg1l	UTSW	7	125,490,852 (GRCm39)	missense	probably benign	0.36
R4607:Gsg1l	UTSW	7	125,557,721 (GRCm39)	missense	probably damaging	1.00
R4608:Gsg1l	UTSW	7	125,557,721 (GRCm39)	missense	probably damaging	1.00
R4876:Gsg1l	UTSW	7	125,490,841 (GRCm39)	missense	probably benign	0.04
R6995:Gsg1l	UTSW	7	125,522,658 (GRCm39)	missense	probably damaging	0.96
RF016:Gsg1l	UTSW	7	125,619,794 (GRCm39)	critical splice donor site	probably null
Z1177:Gsg1l	UTSW	7	125,681,414 (GRCm39)	start gained	probably benign

Posted On

2016-08-02