Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02989:Gm6563'

406843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm6563

Ensembl Gene

ENSMUSG00000051255

Gene Name

predicted pseudogene 6563

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL02989

Quality Score

Status

Chromosome

Chromosomal Location

23653212-23653844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23653234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 8 (L8P)

Ref Sequence

ENSEMBL: ENSMUSP00000137244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056396]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056396
AA Change: L8P

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137244
Gene: ENSMUSG00000051255
AA Change: L8P

Domain	Start	End	E-Value	Type
SAP	8	42	2.49e-10	SMART
low complexity region	43	80	N/A	INTRINSIC
internal_repeat_1	117	130	5.45e-5	PROSPERO
low complexity region	165	180	N/A	INTRINSIC
internal_repeat_1	197	210	5.45e-5	PROSPERO

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,617,422 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,670,748 (GRCm39)	D44G	probably damaging	Het
Arhgap35	A	T	7: 16,231,580 (GRCm39)	*1500R	probably null	Het
Arid1b	A	G	17: 5,385,322 (GRCm39)	Y1413C	probably damaging	Het
Atf6	A	G	1: 170,616,252 (GRCm39)		probably benign	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccdc187	G	A	2: 26,166,443 (GRCm39)	R712W	possibly damaging	Het
Clpb	T	C	7: 101,428,427 (GRCm39)	S396P	probably damaging	Het
Cntnap5a	A	G	1: 116,339,813 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,837,878 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Eprs1	T	G	1: 185,150,563 (GRCm39)	F1355C	probably benign	Het
Faim2	A	G	15: 99,418,243 (GRCm39)		probably benign	Het
Fancg	A	G	4: 43,007,121 (GRCm39)		probably benign	Het
Fbxo42	T	A	4: 140,926,845 (GRCm39)	I375N	probably damaging	Het
Gabrr3	A	T	16: 59,268,371 (GRCm39)	D328V	probably damaging	Het
Gm5849	T	A	3: 90,685,107 (GRCm39)	D26V	probably damaging	Het
Gpld1	A	G	13: 25,174,019 (GRCm39)	N815D	possibly damaging	Het
Hrob	A	G	11: 102,146,125 (GRCm39)	I134V	probably benign	Het
Idh2	T	A	7: 79,748,856 (GRCm39)	I142F	probably damaging	Het
Kcnh7	A	C	2: 62,552,269 (GRCm39)	N907K	probably benign	Het
Mcm3ap	A	G	10: 76,306,894 (GRCm39)	T336A	possibly damaging	Het
Or4c15	A	T	2: 88,760,048 (GRCm39)	S204T	possibly damaging	Het
Or52i2	T	C	7: 102,319,651 (GRCm39)	S175P	possibly damaging	Het
Or5b3	C	A	19: 13,388,850 (GRCm39)	Q306K	probably benign	Het
Pilrb1	C	A	5: 137,855,492 (GRCm39)	R133L	possibly damaging	Het
Pitpnm3	C	A	11: 72,011,012 (GRCm39)		probably benign	Het
Prkdc	C	T	16: 15,617,880 (GRCm39)	T3237I	possibly damaging	Het
Pspc1	A	G	14: 57,009,153 (GRCm39)		probably benign	Het
Rasgrp4	G	A	7: 28,847,831 (GRCm39)	E414K	probably damaging	Het
Rgs12	T	A	5: 35,122,463 (GRCm39)	L82Q	probably damaging	Het
Sh3gl3	T	C	7: 81,923,087 (GRCm39)	V117A	probably benign	Het
Shisa5	G	A	9: 108,885,062 (GRCm39)	A112T	probably damaging	Het
Tasor2	A	T	13: 3,634,820 (GRCm39)	H662Q	probably benign	Het
Tedc1	A	G	12: 113,126,941 (GRCm39)	E401G	probably benign	Het
Tsc22d1	T	C	14: 76,656,341 (GRCm39)	M940T	probably benign	Het
Vmn1r129	A	T	7: 21,094,663 (GRCm39)	V185E	probably damaging	Het
Zfp982	C	A	4: 147,597,052 (GRCm39)	D136E	possibly damaging	Het

Other mutations in Gm6563

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Gm6563	APN	19	23,653,751 (GRCm39)	missense	probably damaging	0.99
IGL02247:Gm6563	APN	19	23,653,392 (GRCm39)	missense	possibly damaging	0.73
R1274:Gm6563	UTSW	19	23,653,701 (GRCm39)	missense	probably benign	0.14
R4257:Gm6563	UTSW	19	23,653,339 (GRCm39)	missense	possibly damaging	0.78
R6048:Gm6563	UTSW	19	23,653,246 (GRCm39)	missense	probably benign	0.00
R8480:Gm6563	UTSW	19	23,653,290 (GRCm39)	missense	probably benign	0.00
R8518:Gm6563	UTSW	19	23,653,480 (GRCm39)	missense	probably damaging	1.00
R8730:Gm6563	UTSW	19	23,653,429 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02