Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:D6Wsu163e'

698636

Institutional Source

Beutler Lab

Gene Symbol

D6Wsu163e

Ensembl Gene

ENSMUSG00000030347

Gene Name

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

Synonyms

MMRRC Submission

068982-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126916938-126952667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126943932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 443 (I443V)

Ref Sequence

ENSEMBL: ENSMUSP00000032497 (fasta)

Gene Model

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

AlphaFold

Q91YN0

Predicted Effect

probably benign
Transcript: ENSMUST00000032497
AA Change: I443V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347
AA Change: I443V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	T	A	12: 84,153,358 (GRCm39)	L200Q	possibly damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Atl3	A	G	19: 7,487,447 (GRCm39)	I121V	probably benign	Het
C87436	A	G	6: 86,423,227 (GRCm39)	D267G	probably benign	Het
Ccdc7a	T	A	8: 129,472,482 (GRCm39)	I1617F	possibly damaging	Het
Cic	T	C	7: 24,987,502 (GRCm39)	F1397L	probably benign	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Clock	A	G	5: 76,384,871 (GRCm39)	S449P	probably benign	Het
Cse1l	C	A	2: 166,783,185 (GRCm39)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,589,583 (GRCm39)	I77T	probably damaging	Het
Dctn1	T	C	6: 83,176,684 (GRCm39)	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,002,698 (GRCm39)	E37G	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Ecpas	A	T	4: 58,875,444 (GRCm39)	D173E	probably damaging	Het
Ercc5	T	C	1: 44,217,503 (GRCm39)	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fam83d	T	A	2: 158,610,466 (GRCm39)	C145S	probably damaging	Het
Fbln7	T	A	2: 128,737,343 (GRCm39)	V386E	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm3636	T	A	14: 17,955,001 (GRCm39)	R5S	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Hdac9	A	G	12: 34,220,101 (GRCm39)	M897T	probably benign	Het
Hdc	T	C	2: 126,436,600 (GRCm39)	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,900,995 (GRCm39)	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,197,298 (GRCm39)	D1180G	probably benign	Het
Macf1	A	G	4: 123,577,925 (GRCm39)	C20R	unknown	Het
Mphosph9	T	C	5: 124,450,854 (GRCm39)	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Mslnl	C	T	17: 25,961,694 (GRCm39)	P117S	possibly damaging	Het
Muc16	T	A	9: 18,419,833 (GRCm39)	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,532,664 (GRCm39)	N430S	probably benign	Het
Myl1	T	C	1: 66,973,683 (GRCm39)	I8V	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,919,114 (GRCm39)	R291S	probably damaging	Het
Nr4a2	A	G	2: 56,999,093 (GRCm39)	V448A	probably damaging	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Or4c12	C	A	2: 89,773,725 (GRCm39)	V245L	possibly damaging	Het
Or52a5b	A	G	7: 103,417,478 (GRCm39)	I42T	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,120 (GRCm39)	M33T	possibly damaging	Het
Or8s10	C	A	15: 98,335,614 (GRCm39)	A88E	probably benign	Het
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Per1	T	C	11: 68,995,636 (GRCm39)	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,306,859 (GRCm39)	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Pram1	A	G	17: 33,859,801 (GRCm39)	T123A	probably benign	Het
Ptpn23	C	A	9: 110,237,101 (GRCm39)		probably null	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Resf1	C	T	6: 149,228,027 (GRCm39)	L358F	probably damaging	Het
Rxfp4	T	A	3: 88,559,390 (GRCm39)	R354*	probably null	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,281,359 (GRCm39)	D317V	probably damaging	Het
Slco5a1	A	G	1: 13,059,802 (GRCm39)		probably null	Het
Snx14	T	A	9: 88,265,832 (GRCm39)	T768S	probably benign	Het
Sorbs1	T	A	19: 40,353,462 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,528,954 (GRCm39)	A364T	probably damaging	Het
Tgm3	T	A	2: 129,865,618 (GRCm39)	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,430 (GRCm39)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,752,450 (GRCm39)	V205A	probably benign	Het
Treml2	A	T	17: 48,614,922 (GRCm39)	R136*	probably null	Het
Trim46	T	C	3: 89,142,466 (GRCm39)	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,376,356 (GRCm39)	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Uvssa	T	C	5: 33,571,419 (GRCm39)		probably null	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,486,298 (GRCm39)	I330N	probably damaging	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably 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
R1405:D6Wsu163e	UTSW	6	126,951,446 (GRCm39)	splice site	probably benign
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
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'- GTGGCTTCCTGATACGATGTC -3'
(R):5'- AAGCACAGGACCACGTTAAG -3'

Sequencing Primer
(F):5'- GGCTTCCTGATACGATGTCAACAC -3'
(R):5'- CCACGTTAAGATGTCGGCTGATAAC -3'

Posted On

2022-02-07