Mutagenetix > Incidental Mutation

Incidental Mutation 'R3086:Gsg1l'

265635

Institutional Source

Beutler Lab

Gene Symbol

Gsg1l

Ensembl Gene

ENSMUSG00000046182

Gene Name

GSG1-like

Synonyms

G630023A01Rik, C230098I05Rik

MMRRC Submission

040575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125477592-125681583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125490852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 284 (R284H)

Ref Sequence

ENSEMBL: ENSMUSP00000073591 (fasta)

Gene Model

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

AlphaFold

D3Z7H4

Predicted Effect

probably benign
Transcript: ENSMUST00000073935
AA Change: R284H

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073591
Gene: ENSMUSG00000046182
AA Change: R284H

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

Meta Mutation Damage Score

0.1185

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 47,083,881 (GRCm39)	L48P	probably damaging	Het
Adgra3	A	T	5: 50,170,733 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,655,122 (GRCm39)	R3223G	probably benign	Het
Bltp1	A	G	3: 37,065,852 (GRCm39)	D3483G	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Ces2b	A	T	8: 105,559,401 (GRCm39)	D89V	possibly damaging	Het
Dhrs2	G	T	14: 55,477,301 (GRCm39)	V179L	probably benign	Het
Dlg5	T	C	14: 24,216,258 (GRCm39)	T595A	probably damaging	Het
Dock10	T	C	1: 80,510,074 (GRCm39)	N1585D	possibly damaging	Het
Dock4	T	C	12: 40,781,862 (GRCm39)	I689T	probably benign	Het
Fgfr4	G	T	13: 55,315,205 (GRCm39)		probably benign	Het
Frk	G	A	10: 34,483,950 (GRCm39)	G437D	probably damaging	Het
Frzb	T	G	2: 80,248,858 (GRCm39)	I199L	possibly damaging	Het
Helq	A	G	5: 100,921,858 (GRCm39)	L782S	probably benign	Het
Kif20b	T	C	19: 34,907,115 (GRCm39)	F128S	probably damaging	Het
Kifc2	T	C	15: 76,551,452 (GRCm39)	F725L	probably benign	Het
Lekr1	A	G	3: 65,634,581 (GRCm39)		noncoding transcript	Het
Macf1	T	A	4: 123,328,901 (GRCm39)	M2490L	probably benign	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
N4bp2	A	G	5: 65,948,396 (GRCm39)	Y342C	probably damaging	Het
Nf1	T	C	11: 79,437,812 (GRCm39)	C2057R	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or6c88	G	A	10: 129,407,276 (GRCm39)	G251S	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdha1	G	C	18: 37,064,001 (GRCm39)	E222Q	possibly damaging	Het
Prune2	A	T	19: 17,098,777 (GRCm39)	D1427V	possibly damaging	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Rsph4a	G	C	10: 33,785,198 (GRCm39)	V370L	probably damaging	Het
Sema5b	T	A	16: 35,443,093 (GRCm39)	S33T	probably benign	Het
Stk-ps2	A	C	1: 46,068,236 (GRCm39)		noncoding transcript	Het
Tep1	A	T	14: 51,064,511 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,715,400 (GRCm39)	K132E	probably benign	Het
Tiam2	A	G	17: 3,471,857 (GRCm39)	K500E	probably damaging	Het
Tmem131l	G	T	3: 83,839,046 (GRCm39)	R635S	probably benign	Het
Tmem68	T	C	4: 3,569,594 (GRCm39)	E32G	possibly damaging	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Zfp780b	A	G	7: 27,663,055 (GRCm39)	I500T	probably damaging	Het
Zfyve26	G	T	12: 79,312,457 (GRCm39)		probably benign	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
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
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'- TGAAGTGAATGTGCTCGGAG -3'
(R):5'- TGCCCATATCTCAGGGTGTG -3'

Sequencing Primer
(F):5'- GGAGCCCCTAAGCTAATCTGTC -3'
(R):5'- CATATCTCAGGGTGTGGGCAAC -3'

Posted On

2015-02-05