Mutagenetix > Incidental Mutation

Incidental Mutation 'R0899:Gm4763'

83793

Institutional Source

Beutler Lab

Gene Symbol

Gm4763

Ensembl Gene

ENSMUSG00000058717

Gene Name

predicted gene 4763

Synonyms

MMRRC Submission

039059-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0899 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24715023-24726908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24723312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 112 (R112H)

Ref Sequence

ENSEMBL: ENSMUSP00000080361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081657] [ENSMUST00000205376]

AlphaFold

Q8CFJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000081657
AA Change: R112H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080361
Gene: ENSMUSG00000058717
AA Change: R112H

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
Pfam:UPAR_LY6	88	165	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206243

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.2%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	T	C	15: 84,949,258	K442E	probably damaging	Het
Adamts1	G	A	16: 85,798,052	R340*	probably null	Het
Afg3l2	T	C	18: 67,422,977	N428S	possibly damaging	Het
Aqp12	G	A	1: 93,006,610	D70N	probably damaging	Het
Astn1	T	A	1: 158,511,109	C475*	probably null	Het
Atp2b1	G	A	10: 99,017,031		probably null	Het
Cbln2	T	C	18: 86,716,752	S217P	possibly damaging	Het
Ces2h	T	C	8: 105,014,550	L58P	probably damaging	Het
Cfap43	C	T	19: 47,747,994	G1353R	possibly damaging	Het
Crcp	A	G	5: 130,059,831	M91V	probably benign	Het
Cubn	A	G	2: 13,362,328	V1577A	possibly damaging	Het
Dthd1	A	G	5: 62,842,928	H531R	probably benign	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Fat2	C	T	11: 55,256,225	G3982S	probably damaging	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Fcnb	T	A	2: 28,076,779	K247N	probably damaging	Het
Gtf2a1l	A	G	17: 88,668,724	N5S		Het
Htr3a	T	A	9: 48,901,452	D229V	possibly damaging	Het
Ipo11	A	C	13: 106,900,816	L173*	probably null	Het
Jam3	C	A	9: 27,098,957	G244W	probably damaging	Het
Mrpl52	C	T	14: 54,427,084	R12*	probably null	Het
Myo15	A	G	11: 60,477,185	Y257C	possibly damaging	Het
Myocd	G	A	11: 65,195,192	P215L	possibly damaging	Het
Ndst1	T	C	18: 60,707,882	T243A	probably benign	Het
Obox5	A	T	7: 15,758,875	T252S	probably benign	Het
Oit1	A	G	14: 8,364,863	I16T	probably damaging	Het
Olfr1026	A	G	2: 85,923,387	T40A	probably benign	Het
Olfr790	T	C	10: 129,501,432	F183L	probably damaging	Het
Olfr854	A	C	9: 19,566,547	V276G	probably damaging	Het
Osbpl1a	T	C	18: 12,757,690	S377G	possibly damaging	Het
Pfkl	A	G	10: 78,005,439		probably null	Het
Prdm16	A	T	4: 154,528,909	N20K	probably damaging	Het
Prkd1	A	G	12: 50,385,193	I589T	probably damaging	Het
Scnn1b	G	A	7: 121,917,715	G525S	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Ttn	A	G	2: 76,887,985		probably benign	Het
Wap	T	C	11: 6,636,725	T125A	probably benign	Het
Wdr86	C	T	5: 24,718,007	R229Q	probably benign	Het

Other mutations in Gm4763

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Gm4763	APN	7	24723506	missense	probably damaging	0.99
IGL02953:Gm4763	APN	7	24723566	missense	probably damaging	1.00
IGL03349:Gm4763	APN	7	24722836	missense	probably damaging	0.99
R0144:Gm4763	UTSW	7	24723590	missense	possibly damaging	0.85
R0485:Gm4763	UTSW	7	24722745	missense	possibly damaging	0.84
R0652:Gm4763	UTSW	7	24724197	missense	possibly damaging	0.96
R0963:Gm4763	UTSW	7	24723622	missense	probably benign	0.00
R5290:Gm4763	UTSW	7	24723411	missense	probably benign	0.04
R6134:Gm4763	UTSW	7	24726056	missense	probably damaging	1.00
R7128:Gm4763	UTSW	7	24725999	critical splice donor site	probably null
R7191:Gm4763	UTSW	7	24723334	missense	possibly damaging	0.88
R9061:Gm4763	UTSW	7	24722748	missense	possibly damaging	0.96
X0062:Gm4763	UTSW	7	24723299	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTACACTTCATCCGCTAGAGCAAC -3'
(R):5'- CAACAGTGCTAACAGCACCAGTGTC -3'

Sequencing Primer
(F):5'- GAGCAACCCATGCCTCTG -3'
(R):5'- CGTGAAACTTTCAGGTAAGTGACC -3'

Posted On

2013-11-08