Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Gsg1l'

40020

Institutional Source

Beutler Lab

Gene Symbol

Gsg1l

Ensembl Gene

ENSMUSG00000046182

Gene Name

GSG1-like

Synonyms

G630023A01Rik, C230098I05Rik

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125477592-125681583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125522682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 182 (M182T)

Ref Sequence

ENSEMBL: ENSMUSP00000073591 (fasta)

Gene Model

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

AlphaFold

D3Z7H4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073935
AA Change: M182T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073591
Gene: ENSMUSG00000046182
AA Change: M182T

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

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	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
IGL03076:Gsg1l	APN	7	125,522,665 (GRCm39)	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- AGCATGGGTTTCTGCCATCCAC -3'
(R):5'- TGGCACCCTTCAGAACCAGTTTC -3'

Sequencing Primer
(F):5'- GTTTCTGCCATCCACAAACC -3'
(R):5'- CCCGTTGCTTAAACTTGGAAAGG -3'

Posted On

2013-05-23