Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02890:D6Wsu163e'

363142

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02890

Quality Score

Status

Chromosome

Chromosomal Location

126916938-126952667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126951450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 500 (G500D)

Ref Sequence

ENSEMBL: ENSMUSP00000032497 (fasta)

Gene Model

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

AlphaFold

Q91YN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032497
AA Change: G500D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347
AA Change: G500D

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	T	8: 41,278,190 (GRCm39)	I194L	probably benign	Het
Akirin1	A	G	4: 123,631,855 (GRCm39)	V171A	probably damaging	Het
Camk2b	A	T	11: 5,951,340 (GRCm39)	D91E	possibly damaging	Het
Ccser1	A	G	6: 62,356,815 (GRCm39)	D751G	probably damaging	Het
Dchs1	G	T	7: 105,405,698 (GRCm39)	D2395E	probably damaging	Het
Entrep3	A	T	3: 89,094,089 (GRCm39)	T223S	possibly damaging	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	A	G	1: 71,637,531 (GRCm39)		probably null	Het
Galnt14	A	C	17: 73,816,519 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,102,090 (GRCm39)	S890R	probably damaging	Het
Glrp1	T	A	1: 88,437,510 (GRCm39)		probably null	Het
Grik1	A	G	16: 87,693,690 (GRCm39)		probably benign	Het
H2bc14	G	T	13: 21,906,356 (GRCm39)	R30L	probably benign	Het
Hspa12a	C	T	19: 58,809,431 (GRCm39)		probably null	Het
Hykk	C	T	9: 54,827,995 (GRCm39)	P78L	probably benign	Het
Kctd13	G	A	7: 126,529,903 (GRCm39)	G115R	probably benign	Het
Kctd16	A	G	18: 40,390,080 (GRCm39)		probably benign	Het
Ltn1	C	T	16: 87,206,185 (GRCm39)		probably null	Het
Mat2a	A	G	6: 72,413,229 (GRCm39)	L167P	probably damaging	Het
Myo6	A	G	9: 80,173,456 (GRCm39)	E532G	probably damaging	Het
Nrbp2	G	T	15: 75,961,306 (GRCm39)	L272M	probably damaging	Het
Nrdc	A	G	4: 108,911,116 (GRCm39)	D790G	possibly damaging	Het
Or4e5	T	A	14: 52,728,368 (GRCm39)	T18S	probably benign	Het
Or5k16	T	C	16: 58,736,737 (GRCm39)	D89G	probably benign	Het
Or8g26	T	C	9: 39,095,564 (GRCm39)	L27P	probably damaging	Het
Pcdh10	A	T	3: 45,347,052 (GRCm39)	H949L	probably damaging	Het
Pikfyve	A	G	1: 65,269,956 (GRCm39)	Y547C	probably benign	Het
Pkhd1	A	T	1: 20,431,235 (GRCm39)	V2392D	probably damaging	Het
Ppp1r3g	A	T	13: 36,153,314 (GRCm39)	T245S	probably damaging	Het
Prkaa1	A	G	15: 5,206,567 (GRCm39)	N439S	possibly damaging	Het
Radil	A	G	5: 142,529,463 (GRCm39)	Y78H	probably damaging	Het
Ric8b	A	T	10: 84,837,731 (GRCm39)	M513L	possibly damaging	Het
Slc4a10	T	C	2: 62,117,260 (GRCm39)	S740P	probably damaging	Het
Slc5a12	T	C	2: 110,454,478 (GRCm39)		probably benign	Het
Smg1	G	A	7: 117,784,724 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,748,853 (GRCm39)	M1I	probably null	Het
Tmc5	A	T	7: 118,244,653 (GRCm39)		probably benign	Het
Tpp2	C	T	1: 44,038,850 (GRCm39)	A1132V	probably damaging	Het
Ttll4	A	T	1: 74,726,498 (GRCm39)	K699*	probably null	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
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
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

Posted On

2015-12-18