Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:D6Wsu163e'

698523

Institutional Source

Beutler Lab

Gene Symbol

D6Wsu163e

Ensembl Gene

ENSMUSG00000030347

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not 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: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,820,330 (GRCm39)	D248G	probably benign	Het
Abcc5	C	A	16: 20,208,139 (GRCm39)	V605F	probably benign	Het
Als2	A	G	1: 59,224,406 (GRCm39)	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Apex1	T	G	14: 51,163,125 (GRCm39)	D69E	possibly damaging	Het
Atg13	A	T	2: 91,512,406 (GRCm39)	F288I	probably benign	Het
Atl3	A	G	19: 7,487,447 (GRCm39)	I121V	probably benign	Het
Atoh1	A	G	6: 64,706,713 (GRCm39)	E136G	probably benign	Het
Ccr7	T	C	11: 99,039,895 (GRCm39)	N9S	probably benign	Het
Cdhr1	A	C	14: 36,802,505 (GRCm39)	W653G	probably damaging	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Crnn	A	C	3: 93,054,251 (GRCm39)	I45L	possibly damaging	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
Dnah7a	G	T	1: 53,540,757 (GRCm39)	T2539N	probably benign	Het
Ecpas	A	T	4: 58,875,444 (GRCm39)	D173E	probably damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fat4	G	C	3: 39,063,390 (GRCm39)	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,015,191 (GRCm39)	L964S	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm973	A	T	1: 59,591,585 (GRCm39)	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Iars2	A	T	1: 185,050,146 (GRCm39)	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,607,947 (GRCm39)	S545P	probably damaging	Het
Kif1a	G	T	1: 92,979,202 (GRCm39)	D928E	probably damaging	Het
Kif26a	C	T	12: 112,144,480 (GRCm39)	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,079,227 (GRCm39)		probably null	Het
Klhl31	T	A	9: 77,558,389 (GRCm39)	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,126,197 (GRCm39)	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,022,350 (GRCm39)	C924S	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
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,257,656 (GRCm39)	L425M	possibly damaging	Het
Nop9	T	A	14: 55,987,592 (GRCm39)		probably null	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,874,793 (GRCm39)	M1I	probably null	Het
Or4f61	A	G	2: 111,922,410 (GRCm39)	F212S	probably benign	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
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,447,163 (GRCm39)	Y469*	probably null	Het
Rbm33	A	G	5: 28,557,584 (GRCm39)	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Rcor3	A	T	1: 191,785,895 (GRCm39)	*448R	probably null	Het
Scn10a	T	C	9: 119,445,827 (GRCm39)	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,548,131 (GRCm39)	I1108F	probably damaging	Het
Scrn2	T	C	11: 96,922,962 (GRCm39)	I135T	probably damaging	Het
Sptan1	A	T	2: 29,920,724 (GRCm39)	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,825,442 (GRCm39)	S98P	probably benign	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
Tor4a	A	T	2: 25,084,975 (GRCm39)	N309K	probably damaging	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Tvp23b	T	C	11: 62,772,842 (GRCm39)	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,467,032 (GRCm39)	I156F	probably damaging	Het
Wnk4	T	C	11: 101,164,882 (GRCm39)	I737T	probably damaging	Het
Zfp329	A	T	7: 12,545,085 (GRCm39)	D146E	probably benign	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp804b	T	C	5: 6,822,154 (GRCm39)	N303S	probably benign	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
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'- AGTGGCTTCCTGATACGATG -3'
(R):5'- AGCACAGGACCACGTTAAGATG -3'

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

Posted On

2022-02-07