Mutagenetix > Incidental Mutation

Incidental Mutation 'R5835:4930505A04Rik'

449551

Institutional Source

Beutler Lab

Gene Symbol

4930505A04Rik

Ensembl Gene

ENSMUSG00000040919

Gene Name

RIKEN cDNA 4930505A04 gene

Synonyms

MMRRC Submission

044056-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30376006-30421827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30376349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 173 (V173M)

Ref Sequence

ENSEMBL: ENSMUSP00000045288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041763] [ENSMUST00000152718]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041763
AA Change: V173M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000152718

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,616,295 (GRCm39)	K141R	probably damaging	Het
Ablim3	T	C	18: 61,956,993 (GRCm39)	E278G	probably damaging	Het
Adam28	A	G	14: 68,893,130 (GRCm39)	W4R	possibly damaging	Het
Ahnak2	T	C	12: 112,742,230 (GRCm39)	N614S	possibly damaging	Het
Arfgef1	A	G	1: 10,230,964 (GRCm39)	S1182P	probably damaging	Het
Asb8	A	T	15: 98,034,263 (GRCm39)	D97E	probably damaging	Het
AU041133	T	A	10: 81,987,046 (GRCm39)	L232H	probably damaging	Het
Bmp2k	T	G	5: 97,204,841 (GRCm39)	V392G	possibly damaging	Het
Capn12	C	A	7: 28,581,383 (GRCm39)	H79N	probably benign	Het
Casp2	C	A	6: 42,244,520 (GRCm39)	S54R	possibly damaging	Het
Ccdc18	T	C	5: 108,288,740 (GRCm39)	S163P	possibly damaging	Het
Ccdc92b	A	G	11: 74,528,838 (GRCm39)	E114G	probably benign	Het
Cd209c	C	A	8: 3,995,699 (GRCm39)	M34I	probably benign	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cndp1	C	A	18: 84,630,958 (GRCm39)	A434S	probably benign	Het
Crybg1	T	A	10: 43,851,129 (GRCm39)	T1581S	probably benign	Het
Cyb5d2	A	T	11: 72,680,036 (GRCm39)	D86E	probably damaging	Het
Duox1	T	G	2: 122,158,341 (GRCm39)	V608G	probably benign	Het
Exosc10	A	G	4: 148,649,844 (GRCm39)	R425G	probably damaging	Het
Fat3	A	T	9: 16,287,129 (GRCm39)	I798N	probably damaging	Het
Habp2	T	A	19: 56,295,218 (GRCm39)	D36E	probably benign	Het
Herpud1	T	C	8: 95,118,867 (GRCm39)	V207A	probably damaging	Het
Htt	A	G	5: 34,970,534 (GRCm39)	I561V	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Igkv18-36	A	G	6: 69,969,512 (GRCm39)	I93T	probably damaging	Het
Kalrn	T	G	16: 33,807,461 (GRCm39)	E2636A	probably benign	Het
Kif27	A	G	13: 58,460,960 (GRCm39)		probably null	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Myh6	T	C	14: 55,187,864 (GRCm39)	K1197E	probably damaging	Het
Obscn	T	C	11: 58,892,907 (GRCm39)	T6780A	probably benign	Het
Obscn	C	T	11: 58,932,953 (GRCm39)	V4808M	probably damaging	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Pkhd1	T	C	1: 20,271,307 (GRCm39)	D3082G	probably benign	Het
Plch1	T	C	3: 63,604,943 (GRCm39)	M1645V	probably benign	Het
Ppip5k1	A	G	2: 121,168,380 (GRCm39)	V674A	probably benign	Het
Prrc2b	T	A	2: 32,096,485 (GRCm39)	S619T	probably benign	Het
Rab44	A	T	17: 29,367,212 (GRCm39)	H714L	probably benign	Het
Rybp	A	G	6: 100,210,151 (GRCm39)	Y70H	possibly damaging	Het
Sfrp1	A	G	8: 23,936,260 (GRCm39)	K234R	possibly damaging	Het
Slc1a2	A	G	2: 102,607,795 (GRCm39)	N481S	probably damaging	Het
Slc44a3	T	G	3: 121,320,849 (GRCm39)	I51L	probably benign	Het
Slitrk1	A	G	14: 109,149,004 (GRCm39)	F569S	possibly damaging	Het
Smurf2	A	T	11: 106,726,974 (GRCm39)	N451K	probably damaging	Het
Sptbn2	T	A	19: 4,788,247 (GRCm39)	D1075E	probably damaging	Het
Syngap1	A	T	17: 27,177,192 (GRCm39)	H65L	probably benign	Het
Tdrd12	T	C	7: 35,228,689 (GRCm39)	D11G	probably damaging	Het
Tex2	C	T	11: 106,410,739 (GRCm39)	A926T	unknown	Het
Tm7sf2	A	G	19: 6,113,914 (GRCm39)	F209S	probably damaging	Het
Trbv12-2	G	A	6: 41,095,774 (GRCm39)		probably benign	Het
Virma	T	A	4: 11,514,036 (GRCm39)	L630H	probably damaging	Het
Vmn1r68	A	G	7: 10,261,747 (GRCm39)	I117T	possibly damaging	Het
Zan	C	A	5: 137,454,917 (GRCm39)	R1373L	unknown	Het

Other mutations in 4930505A04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:4930505A04Rik	APN	11	30,404,843 (GRCm39)	missense	possibly damaging	0.69
IGL01545:4930505A04Rik	APN	11	30,376,228 (GRCm39)	missense	probably benign	0.13
R0400:4930505A04Rik	UTSW	11	30,376,360 (GRCm39)	missense	probably benign	0.09
R1029:4930505A04Rik	UTSW	11	30,396,389 (GRCm39)	splice site	probably benign
R1029:4930505A04Rik	UTSW	11	30,376,177 (GRCm39)	missense	probably damaging	0.96
R1585:4930505A04Rik	UTSW	11	30,377,175 (GRCm39)	splice site	probably benign
R4708:4930505A04Rik	UTSW	11	30,404,717 (GRCm39)	missense	probably damaging	0.98
R4993:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R4994:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R4995:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R4996:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5187:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5189:4930505A04Rik	UTSW	11	30,376,169 (GRCm39)	missense	probably damaging	0.97
R5330:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5333:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5448:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5449:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5450:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5475:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5477:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5665:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5823:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5832:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5833:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R5873:4930505A04Rik	UTSW	11	30,376,220 (GRCm39)	nonsense	probably null
R6032:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6032:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6037:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6037:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6058:4930505A04Rik	UTSW	11	30,376,349 (GRCm39)	missense	probably damaging	0.97
R6224:4930505A04Rik	UTSW	11	30,404,815 (GRCm39)	missense	probably benign	0.44
R8394:4930505A04Rik	UTSW	11	30,404,880 (GRCm39)	critical splice acceptor site	probably null
R8536:4930505A04Rik	UTSW	11	30,376,217 (GRCm39)	missense	probably benign	0.19
R9149:4930505A04Rik	UTSW	11	30,396,304 (GRCm39)	missense	probably benign	0.39
R9765:4930505A04Rik	UTSW	11	30,404,829 (GRCm39)	missense	probably benign	0.01
RF046:4930505A04Rik	UTSW	11	30,376,249 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AACTCTTGGGAATTCTGTTGGC -3'
(R):5'- CACAGGCTCTTCTCTGACTG -3'

Sequencing Primer
(F):5'- GCATAGGCCTGGTGAGGTC -3'
(R):5'- ACAGGCTCTTCTCTGACTGTTTTAC -3'

Posted On

2016-12-20