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: 0.059) question?

Stock #

R5222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

159871950-159906157 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 159872178 bp (GRCm39)

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: 103,974,576 (GRCm39)	A515T	probably damaging	Het
Angpt1	T	C	15: 42,539,730 (GRCm39)	Y43C	probably damaging	Het
Arhgef33	A	G	17: 80,644,743 (GRCm39)	Y24C	probably damaging	Het
Cd40	G	C	2: 164,908,464 (GRCm39)	S180T	probably benign	Het
Cenpc1	A	T	5: 86,185,606 (GRCm39)	S302T	possibly damaging	Het
Cit	C	A	5: 116,090,602 (GRCm39)	T932K	probably benign	Het
Col19a1	A	C	1: 24,598,721 (GRCm39)		probably null	Het
Dapk3	A	G	10: 81,028,294 (GRCm39)	E288G	probably damaging	Het
Ddx60	T	C	8: 62,437,192 (GRCm39)	F1002S	probably damaging	Het
Dgke	G	T	11: 88,941,220 (GRCm39)	T321K	probably benign	Het
Ebf2	T	G	14: 67,551,043 (GRCm39)		probably benign	Het
Enpp7	A	G	11: 118,881,788 (GRCm39)	D311G	probably benign	Het
Epm2a	A	G	10: 11,324,493 (GRCm39)	E194G	probably damaging	Het
Esf1	A	G	2: 140,000,503 (GRCm39)	Y428H	possibly damaging	Het
Esyt2	T	C	12: 116,282,446 (GRCm39)	F132S	probably damaging	Het
Gm5455	T	C	13: 110,441,494 (GRCm39)		noncoding transcript	Het
Gria1	T	A	11: 57,080,623 (GRCm39)	V202E	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mark1	A	T	1: 184,660,288 (GRCm39)	F123I	probably damaging	Het
Nectin4	T	A	1: 171,212,825 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,934,971 (GRCm39)	T5220S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2l13	A	C	16: 19,305,680 (GRCm39)	I31L	probably benign	Het
Or2p2	T	A	13: 21,256,739 (GRCm39)	H244L	probably damaging	Het
Pdcd1	A	T	1: 93,980,175 (GRCm39)	V14E	probably damaging	Het
Pmel	A	G	10: 128,554,853 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,362 (GRCm39)	I454F	possibly damaging	Het
Prrx1	C	T	1: 163,089,542 (GRCm39)	R95Q	probably damaging	Het
Pstpip2	T	A	18: 77,962,032 (GRCm39)	Y267*	probably null	Het
Ptprq	A	G	10: 107,498,425 (GRCm39)	I884T	probably damaging	Het
Rad17	G	A	13: 100,770,399 (GRCm39)	T216I	possibly damaging	Het
Rif1	T	C	2: 51,967,032 (GRCm39)	I107T	probably benign	Het
Rpp14	T	C	14: 8,087,513 (GRCm38)	L69P	probably damaging	Het
Rtel1	G	T	2: 180,988,776 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,799,756 (GRCm39)	T362M	probably damaging	Het
Scn11a	A	G	9: 119,644,268 (GRCm39)		probably null	Het
Sec31a	G	T	5: 100,530,754 (GRCm39)	T243N	probably benign	Het
Slc5a9	T	A	4: 111,755,808 (GRCm39)	H30L	possibly damaging	Het
Slco6b1	T	A	1: 96,925,216 (GRCm39)		noncoding transcript	Het
Smarca4	A	G	9: 21,567,002 (GRCm39)	D694G	probably benign	Het
Spaca6	A	G	17: 18,058,367 (GRCm39)	T213A	probably benign	Het
Tagap	C	A	17: 8,152,473 (GRCm39)	Q553K	possibly damaging	Het
Tagap	A	T	17: 8,152,474 (GRCm39)	Q553L	possibly damaging	Het
Tcf7l2	A	G	19: 55,887,044 (GRCm39)	Q19R	probably benign	Het
Ttn	A	G	2: 76,709,197 (GRCm39)		probably benign	Het
Ubr7	A	T	12: 102,741,964 (GRCm39)	R399S	probably benign	Het
Uspl1	C	A	5: 149,150,911 (GRCm39)	Q690K	possibly damaging	Het
Vps8	T	A	16: 21,400,298 (GRCm39)	Y853*	probably null	Het
Vrk3	A	T	7: 44,409,220 (GRCm39)	Q129L	possibly damaging	Het
Wapl	T	A	14: 34,458,642 (GRCm39)	C901*	probably null	Het

Other mutations in 4930523C07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02545:4930523C07Rik	APN	1	159,902,994 (GRCm39)	missense	probably damaging	0.97
R1023:4930523C07Rik	UTSW	1	159,905,057 (GRCm39)	unclassified	probably benign
R1707:4930523C07Rik	UTSW	1	159,898,372 (GRCm39)	unclassified	probably benign
R2128:4930523C07Rik	UTSW	1	159,902,945 (GRCm39)	nonsense	probably null
R2129:4930523C07Rik	UTSW	1	159,902,945 (GRCm39)	nonsense	probably null
R2147:4930523C07Rik	UTSW	1	159,903,003 (GRCm39)	missense	probably benign	0.04
R4135:4930523C07Rik	UTSW	1	159,905,092 (GRCm39)	unclassified	probably benign
R4418:4930523C07Rik	UTSW	1	159,872,372 (GRCm39)	unclassified	noncoding transcript
R4431:4930523C07Rik	UTSW	1	159,872,149 (GRCm39)	unclassified	noncoding transcript
R6170:4930523C07Rik	UTSW	1	159,902,743 (GRCm39)	missense	possibly damaging	0.82
R6248:4930523C07Rik	UTSW	1	159,902,978 (GRCm39)	missense	possibly damaging	0.83
R6612:4930523C07Rik	UTSW	1	159,902,804 (GRCm39)	missense	probably damaging	0.97
R7015:4930523C07Rik	UTSW	1	159,902,738 (GRCm39)	missense	possibly damaging	0.66
R8057:4930523C07Rik	UTSW	1	159,902,826 (GRCm39)	missense	probably damaging	0.97
R9464:4930523C07Rik	UTSW	1	159,902,865 (GRCm39)	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