Mutagenetix > Incidental Mutation

Incidental Mutation 'R1405:D6Wsu163e'

188688

Institutional Source

Beutler Lab

Gene Symbol

D6Wsu163e

Ensembl Gene

ENSMUSG00000030347

Gene Name

DNA segment, Chr 6, Wayne State University 163, expressed

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126916938-126952667 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 126951446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032497]

AlphaFold

Q91YN0

Predicted Effect

probably benign
Transcript: ENSMUST00000032497

SMART Domains

Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347

Domain	Start	End	E-Value	Type
Pfam:DUF2362	41	546	4.4e-218	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202086

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
AC163020.1	A	G	7: 46,959,305 (GRCm39)	S229P	possibly damaging	Het
Arap1	G	A	7: 101,047,643 (GRCm39)		probably null	Het
Asb8	G	A	15: 98,039,248 (GRCm39)	H51Y	possibly damaging	Het
Capn10	T	G	1: 92,872,744 (GRCm39)	V490G	probably benign	Het
Ccdc138	T	A	10: 58,380,939 (GRCm39)		probably benign	Het
Ccdc146	G	A	5: 21,604,730 (GRCm39)	S36L	probably benign	Het
Celsr1	C	T	15: 85,789,635 (GRCm39)		probably null	Het
Clvs2	C	A	10: 33,389,256 (GRCm39)	*328L	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dstn	A	G	2: 143,780,356 (GRCm39)	K19E	probably damaging	Het
Ehmt2	T	A	17: 35,125,553 (GRCm39)	H134Q	probably benign	Het
Faah	G	A	4: 115,858,345 (GRCm39)	P411S	probably damaging	Het
Fn1	A	G	1: 71,681,237 (GRCm39)	F364L	probably damaging	Het
Gm5828	T	C	1: 16,839,768 (GRCm39)		noncoding transcript	Het
Gmnc	A	T	16: 26,779,196 (GRCm39)	N270K	possibly damaging	Het
Grip2	A	T	6: 91,765,133 (GRCm39)		probably null	Het
Hmg20a	A	T	9: 56,384,587 (GRCm39)	Q119L	possibly damaging	Het
Ipo7	T	C	7: 109,629,048 (GRCm39)	I106T	probably benign	Het
Ipo7	C	T	7: 109,638,456 (GRCm39)	P241L	probably damaging	Het
Katnb1	T	C	8: 95,824,801 (GRCm39)	Y574H	probably damaging	Het
Larp6	A	C	9: 60,644,849 (GRCm39)	M330L	probably benign	Het
Lrrc8e	T	C	8: 4,281,754 (GRCm39)	Y30H	probably damaging	Het
Nav3	A	T	10: 109,606,194 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,868 (GRCm39)	V420A	probably benign	Het
Nrg1	T	C	8: 32,407,855 (GRCm39)	D126G	probably benign	Het
Prdm1	T	A	10: 44,315,961 (GRCm39)	N725I	probably damaging	Het
Prl3a1	A	G	13: 27,459,051 (GRCm39)		probably null	Het
Psmd2	T	C	16: 20,471,034 (GRCm39)	L59P	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,395 (GRCm39)	V304A	probably benign	Het
Ptp4a2	T	A	4: 129,738,851 (GRCm39)		probably benign	Het
Rasa3	A	G	8: 13,638,027 (GRCm39)	V339A	possibly damaging	Het
Sec24c	G	A	14: 20,742,593 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,444,009 (GRCm39)	D343G	probably benign	Het
Sptbn5	A	T	2: 119,881,097 (GRCm39)		noncoding transcript	Het
Stab1	A	C	14: 30,870,958 (GRCm39)	V1297G	probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tafa5	C	T	15: 87,565,678 (GRCm39)		probably benign	Het
Tmprss2	G	A	16: 97,398,005 (GRCm39)	T57I	probably benign	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Vwa5b2	T	A	16: 20,423,066 (GRCm39)	D1021E	probably benign	Het
Wdr46	C	A	17: 34,168,057 (GRCm39)	P543Q	probably damaging	Het
Zfp1005	T	A	2: 150,109,620 (GRCm39)	Y103*	probably null	Het
Zfp287	T	A	11: 62,619,137 (GRCm39)	D119V	probably damaging	Het
Zxdc	A	G	6: 90,361,225 (GRCm39)	S737G	possibly damaging	Het

Other mutations in D6Wsu163e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:D6Wsu163e	APN	6	126,921,815 (GRCm39)	missense	possibly damaging	0.89
IGL02019:D6Wsu163e	APN	6	126,932,184 (GRCm39)	missense	probably damaging	1.00
IGL02890:D6Wsu163e	APN	6	126,951,450 (GRCm39)	missense	probably damaging	1.00
IGL02954:D6Wsu163e	APN	6	126,951,441 (GRCm39)	splice site	probably benign
IGL03179:D6Wsu163e	APN	6	126,927,074 (GRCm39)	missense	probably damaging	1.00
R0267:D6Wsu163e	UTSW	6	126,923,454 (GRCm39)	missense	probably benign	0.17
R1483:D6Wsu163e	UTSW	6	126,931,733 (GRCm39)	missense	probably benign	0.03
R1636:D6Wsu163e	UTSW	6	126,923,564 (GRCm39)	missense	possibly damaging	0.54
R1847:D6Wsu163e	UTSW	6	126,932,112 (GRCm39)	missense	probably damaging	1.00
R5883:D6Wsu163e	UTSW	6	126,943,879 (GRCm39)	missense	probably damaging	1.00
R7402:D6Wsu163e	UTSW	6	126,938,968 (GRCm39)	missense	probably damaging	0.98
R7587:D6Wsu163e	UTSW	6	126,932,859 (GRCm39)	missense	probably benign	0.00
R8229:D6Wsu163e	UTSW	6	126,943,966 (GRCm39)	missense	probably benign	0.12
R8347:D6Wsu163e	UTSW	6	126,932,251 (GRCm39)	nonsense	probably null
R8732:D6Wsu163e	UTSW	6	126,932,859 (GRCm39)	missense	possibly damaging	0.72
R8903:D6Wsu163e	UTSW	6	126,931,778 (GRCm39)	missense	probably damaging	1.00
R9206:D6Wsu163e	UTSW	6	126,943,932 (GRCm39)	missense	probably benign	0.02
R9208:D6Wsu163e	UTSW	6	126,943,932 (GRCm39)	missense	probably benign	0.02
R9333:D6Wsu163e	UTSW	6	126,952,096 (GRCm39)	missense	probably damaging	0.99
R9747:D6Wsu163e	UTSW	6	126,938,977 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TGACAAGACCGTTACACCTCTCTGG -3'
(R):5'- TGCCTGCATGGCACTCAAACATAC -3'

Sequencing Primer
(F):5'- CACCTCTCTGGTATAGAGAATTGG -3'
(R):5'- GCATGGCACTCAAACATACTTCTC -3'

Posted On

2014-05-09