Mutagenetix > Incidental Mutation

Incidental Mutation 'R7015:4930523C07Rik'

545234

Institutional Source

Beutler Lab

Gene Symbol

4930523C07Rik

Ensembl Gene

ENSMUSG00000090394

Gene Name

RIKEN cDNA 4930523C07 gene

Synonyms

MMRRC Submission

045116-MU

Accession Numbers

Essential gene?

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

Stock #

R7015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

159871950-159906157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 159902738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 3 (R3G)

Ref Sequence

ENSEMBL: ENSMUSP00000137410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097513]

AlphaFold

E9Q2T4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097513
AA Change: R3G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137410
Gene: ENSMUSG00000090394
AA Change: R3G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

93% (55/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,786,617 (GRCm39)	I150V	probably benign	Het
Adgrb1	T	C	15: 74,445,959 (GRCm39)	L1085P	probably damaging	Het
Agbl4	A	G	4: 110,335,697 (GRCm39)	N24D	probably damaging	Het
Aox1	A	G	1: 58,321,917 (GRCm39)	T70A	probably benign	Het
Aplf	G	A	6: 87,618,884 (GRCm39)	A399V	probably damaging	Het
Asxl3	A	G	18: 22,656,978 (GRCm39)	S1663G	probably benign	Het
Bcat1	G	C	6: 144,985,309 (GRCm39)	P43R	probably damaging	Het
Camk1	T	C	6: 113,318,887 (GRCm39)	R9G	probably benign	Het
Casp8ap2	T	C	4: 32,644,278 (GRCm39)	V1117A	probably damaging	Het
Cd300ld4	A	T	11: 114,913,533 (GRCm39)	V174E	probably benign	Het
Cep85l	T	C	10: 53,225,151 (GRCm39)	D146G	possibly damaging	Het
Clip1	T	C	5: 123,751,675 (GRCm39)		probably benign	Het
Cog3	C	T	14: 75,950,716 (GRCm39)	V719I	possibly damaging	Het
Col4a4	G	A	1: 82,484,671 (GRCm39)	P532L	unknown	Het
Col6a4	C	T	9: 105,910,954 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,632,521 (GRCm39)	Q4547*	probably null	Het
Ergic1	G	A	17: 26,873,853 (GRCm39)		probably benign	Het
Foxn4	G	A	5: 114,394,916 (GRCm39)	T337M	possibly damaging	Het
Gemin5	A	T	11: 58,047,566 (GRCm39)	I336N	probably damaging	Het
Gm21905	A	T	5: 68,103,705 (GRCm39)		probably null	Het
Grik2	C	A	10: 49,411,532 (GRCm39)	R202L	probably damaging	Het
Iglon5	T	C	7: 43,126,351 (GRCm39)	D184G	probably benign	Het
Il11ra1	A	T	4: 41,765,421 (GRCm39)	Q172L	probably benign	Het
Me2	G	T	18: 73,914,218 (GRCm39)		probably null	Het
Med24	A	G	11: 98,609,678 (GRCm39)	V73A	possibly damaging	Het
Mmp24	A	G	2: 155,634,544 (GRCm39)	Q88R	probably damaging	Het
Mroh3	A	T	1: 136,111,069 (GRCm39)	V819E	probably damaging	Het
Mrps9	A	G	1: 42,937,706 (GRCm39)	K247R	probably benign	Het
Myo15b	G	A	11: 115,762,670 (GRCm39)	R1254H		Het
Ncoa5	A	G	2: 164,844,001 (GRCm39)	L134P	probably benign	Het
Or4d5	A	T	9: 40,012,751 (GRCm39)	F12I	probably benign	Het
Or51e2	C	A	7: 102,391,651 (GRCm39)	L186F	probably damaging	Het
Or52a24	T	C	7: 103,382,024 (GRCm39)	V297A	probably null	Het
Pdcd11	A	G	19: 47,086,665 (GRCm39)	I224V	probably benign	Het
Ptprh	C	A	7: 4,555,626 (GRCm39)		probably null	Het
Rab34	G	T	11: 78,080,978 (GRCm39)	V63F	probably damaging	Het
Rack1	T	C	11: 48,692,592 (GRCm39)	I71T	probably benign	Het
Rai14	G	A	15: 10,589,401 (GRCm39)	R266*	probably null	Het
Rsph9	A	G	17: 46,440,382 (GRCm39)	V238A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sel1l3	A	T	5: 53,329,916 (GRCm39)	C480S	probably benign	Het
Sh3pxd2a	C	T	19: 47,256,562 (GRCm39)	A747T	probably benign	Het
Slc1a3	T	C	15: 8,679,052 (GRCm39)	N181S	probably damaging	Het
Slit1	T	A	19: 41,618,325 (GRCm39)	K784*	probably null	Het
Sos2	T	A	12: 69,632,009 (GRCm39)	Q1297L	probably benign	Het
Srd5a2	T	A	17: 74,334,114 (GRCm39)	T102S	probably benign	Het
Ss18l2	A	T	9: 121,541,674 (GRCm39)	I64F	probably damaging	Het
Tas2r120	T	C	6: 132,634,128 (GRCm39)	F70S	possibly damaging	Het
Tjap1	G	A	17: 46,574,700 (GRCm39)	A5V	possibly damaging	Het
Tln2	A	T	9: 67,269,929 (GRCm39)	M488K	possibly damaging	Het
Tnks	T	G	8: 35,305,701 (GRCm39)	I42L	probably benign	Het
Togaram2	A	T	17: 72,016,563 (GRCm39)	Q640L	possibly damaging	Het
Triobp	C	A	15: 78,878,260 (GRCm39)	Q1682K	probably damaging	Het
Trip11	C	T	12: 101,859,942 (GRCm39)	E311K	probably damaging	Het
Ugt2b5	A	G	5: 87,287,655 (GRCm39)	Y171H	probably damaging	Het
Vmn2r66	T	C	7: 84,644,766 (GRCm39)	D548G	possibly damaging	Het
Zfp990	G	T	4: 145,263,205 (GRCm39)	D68Y	probably damaging	Het
Zranb2	A	T	3: 157,242,370 (GRCm39)		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
R5222:4930523C07Rik	UTSW	1	159,872,178 (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
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'- GCATAAAGACACGGACACTATG -3'
(R):5'- AGCAGAGATCCAGAGGTCTTC -3'

Sequencing Primer
(F):5'- GAAAATAGACAGACCATTGCTATTGC -3'
(R):5'- AGAGATCCAGAGGTCTTCATCTTTC -3'

Posted On

2019-05-13