Mutagenetix > Incidental Mutation

Incidental Mutation 'R5222:4930523C07Rik'

402349

Institutional Source

Beutler Lab

Gene Symbol

4930523C07Rik

Ensembl Gene

ENSMUSG00000090394

Gene Name

RIKEN cDNA 4930523C07 gene

Synonyms

MMRRC Submission

042795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160044382-160080208 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 160044608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

E9Q2T4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000060298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163892

SMART Domains

Protein: ENSMUSP00000127485
Gene: ENSMUSG00000090394

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193461

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,097,377	A515T	probably damaging	Het
Angpt1	T	C	15: 42,676,334	Y43C	probably damaging	Het
Arhgef33	A	G	17: 80,337,314	Y24C	probably damaging	Het
Cd40	G	C	2: 165,066,544	S180T	probably benign	Het
Cenpc1	A	T	5: 86,037,747	S302T	possibly damaging	Het
Cit	C	A	5: 115,952,543	T932K	probably benign	Het
Col19a1	A	C	1: 24,559,640		probably null	Het
Dapk3	A	G	10: 81,192,460	E288G	probably damaging	Het
Ddx60	T	C	8: 61,984,158	F1002S	probably damaging	Het
Dgke	G	T	11: 89,050,394	T321K	probably benign	Het
Ebf2	T	G	14: 67,313,594		probably benign	Het
Enpp7	A	G	11: 118,990,962	D311G	probably benign	Het
Epm2a	A	G	10: 11,448,749	E194G	probably damaging	Het
Esf1	A	G	2: 140,158,583	Y428H	possibly damaging	Het
Esyt2	T	C	12: 116,318,826	F132S	probably damaging	Het
Gm13101	T	A	4: 143,964,792	I454F	possibly damaging	Het
Gm5455	T	C	13: 110,304,960		noncoding transcript	Het
Gria1	T	A	11: 57,189,797	V202E	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Mark1	A	T	1: 184,928,091	F123I	probably damaging	Het
Nectin4	T	A	1: 171,385,257		probably null	Het
Obscn	T	A	11: 59,044,145	T5220S	possibly damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1370	T	A	13: 21,072,569	H244L	probably damaging	Het
Olfr166	A	C	16: 19,486,930	I31L	probably benign	Het
Pdcd1	A	T	1: 94,052,450	V14E	probably damaging	Het
Pmel	A	G	10: 128,718,984		probably null	Het
Prrx1	C	T	1: 163,261,973	R95Q	probably damaging	Het
Pstpip2	T	A	18: 77,874,332	Y267*	probably null	Het
Ptprq	A	G	10: 107,662,564	I884T	probably damaging	Het
Rad17	G	A	13: 100,633,891	T216I	possibly damaging	Het
Rif1	T	C	2: 52,077,020	I107T	probably benign	Het
Rpp14	T	C	14: 8,087,513	L69P	probably damaging	Het
Rtel1	G	T	2: 181,346,983		probably benign	Het
Sap130	C	T	18: 31,666,703	T362M	probably damaging	Het
Scn11a	A	G	9: 119,815,202		probably null	Het
Sec31a	G	T	5: 100,382,895	T243N	probably benign	Het
Slc5a9	T	A	4: 111,898,611	H30L	possibly damaging	Het
Slco6b1	T	A	1: 96,997,491		noncoding transcript	Het
Smarca4	A	G	9: 21,655,706	D694G	probably benign	Het
Spaca6	A	G	17: 17,838,105	T213A	probably benign	Het
Tagap	C	A	17: 7,933,641	Q553K	possibly damaging	Het
Tagap	A	T	17: 7,933,642	Q553L	possibly damaging	Het
Tcf7l2	A	G	19: 55,898,612	Q19R	probably benign	Het
Ttn	A	G	2: 76,878,853		probably benign	Het
Ubr7	A	T	12: 102,775,705	R399S	probably benign	Het
Uspl1	C	A	5: 149,214,101	Q690K	possibly damaging	Het
Vps8	T	A	16: 21,581,548	Y853*	probably null	Het
Vrk3	A	T	7: 44,759,796	Q129L	possibly damaging	Het
Wapl	T	A	14: 34,736,685	C901*	probably null	Het

Other mutations in 4930523C07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02545:4930523C07Rik	APN	1	160075424	missense	probably damaging	0.97
R1023:4930523C07Rik	UTSW	1	160077487	unclassified	probably benign
R1707:4930523C07Rik	UTSW	1	160070802	unclassified	probably benign
R2128:4930523C07Rik	UTSW	1	160075375	nonsense	probably null
R2129:4930523C07Rik	UTSW	1	160075375	nonsense	probably null
R2147:4930523C07Rik	UTSW	1	160075433	missense	probably benign	0.04
R4135:4930523C07Rik	UTSW	1	160077522	unclassified	probably benign
R4418:4930523C07Rik	UTSW	1	160044802	unclassified	noncoding transcript
R4431:4930523C07Rik	UTSW	1	160044579	unclassified	noncoding transcript
R6170:4930523C07Rik	UTSW	1	160075173	missense	possibly damaging	0.82
R6248:4930523C07Rik	UTSW	1	160075408	missense	possibly damaging	0.83
R6612:4930523C07Rik	UTSW	1	160075234	missense	probably damaging	0.97
R7015:4930523C07Rik	UTSW	1	160075168	missense	possibly damaging	0.66
R8057:4930523C07Rik	UTSW	1	160075256	missense	probably damaging	0.97
R9464:4930523C07Rik	UTSW	1	160075295	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GCGTGTGCCTCCTAGTTTAAG -3'
(R):5'- TTCACTCTTCTATGGGAAAGTCC -3'

Sequencing Primer
(F):5'- GTGCCTCCTAGTTTAAGGTAGG -3'
(R):5'- GGCAGCTCCCAAACTTATTTTG -3'

Posted On

2016-07-22