Mutagenetix > Incidental Mutation

Incidental Mutation 'R5475:4930505A04Rik'

434031

Institutional Source

Beutler Lab

Gene Symbol

4930505A04Rik

Ensembl Gene

ENSMUSG00000040919

Gene Name

RIKEN cDNA 4930505A04 gene

Synonyms

MMRRC Submission

043036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5475 (G1)

Quality Score

225

Status

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: 98.3%
3x: 97.4%
10x: 95.5%
20x: 91.8%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	G	2: 122,482,646 (GRCm39)	K70R	probably damaging	Het
Agr3	A	G	12: 35,997,539 (GRCm39)	N83S	probably benign	Het
Alpk2	T	C	18: 65,440,083 (GRCm39)	T904A	probably benign	Het
Ank	A	T	15: 27,557,285 (GRCm39)	K156N	probably damaging	Het
Arsb	T	G	13: 93,998,773 (GRCm39)	D360E	probably benign	Het
Atg14	C	T	14: 47,805,793 (GRCm39)	R24Q	possibly damaging	Het
Cacna1e	A	T	1: 154,601,455 (GRCm39)	F71I	possibly damaging	Het
Cdc42bpg	T	C	19: 6,361,101 (GRCm39)	I242T	probably damaging	Het
Cngb1	A	T	8: 95,978,597 (GRCm39)	I588N	probably damaging	Het
Col6a6	T	C	9: 105,651,537 (GRCm39)	H1158R	probably null	Het
Cse1l	T	C	2: 166,783,174 (GRCm39)	S684P	probably damaging	Het
Cyp2c29	A	T	19: 39,318,731 (GRCm39)	M404L	possibly damaging	Het
D5Ertd579e	G	T	5: 36,772,601 (GRCm39)	S598Y	probably damaging	Het
Dph7	A	T	2: 24,858,969 (GRCm39)		probably null	Het
Dsg1c	A	T	18: 20,415,088 (GRCm39)	N662Y	probably damaging	Het
Efcab9	T	G	11: 32,472,862 (GRCm39)	D195A	probably damaging	Het
Ephb4	A	G	5: 137,352,701 (GRCm39)	M95V	probably benign	Het
Fam171a1	A	T	2: 3,226,334 (GRCm39)	Y489F	possibly damaging	Het
Fars2	T	C	13: 36,388,553 (GRCm39)	I14T	probably benign	Het
Fbxo34	T	C	14: 47,766,802 (GRCm39)	V54A	probably benign	Het
Fbxw17	T	C	13: 50,579,684 (GRCm39)	I167T	probably benign	Het
Fzd9	A	T	5: 135,279,123 (GRCm39)		probably null	Het
Gm26996	T	A	6: 130,556,918 (GRCm39)		noncoding transcript	Het
Gm4744	A	G	6: 40,927,388 (GRCm39)		probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Has1	C	A	17: 18,068,583 (GRCm39)	R257L	possibly damaging	Het
Hjv	T	C	3: 96,434,599 (GRCm39)	S113P	probably benign	Het
Hsd17b8	C	T	17: 34,246,287 (GRCm39)		probably benign	Het
Kat2b	T	G	17: 53,970,609 (GRCm39)	V665G	probably damaging	Het
Klhdc4	T	A	8: 122,526,311 (GRCm39)	H276L	possibly damaging	Het
Klhl6	A	T	16: 19,766,877 (GRCm39)	C506S	probably damaging	Het
Ldb2	T	C	5: 44,699,174 (GRCm39)	Y88C	probably damaging	Het
Lrit1	A	G	14: 36,776,958 (GRCm39)	E26G	probably benign	Het
Mcoln2	A	G	3: 145,889,541 (GRCm39)	Y414C	probably damaging	Het
Mfsd5	A	G	15: 102,188,928 (GRCm39)	D100G	probably damaging	Het
Micall2	T	A	5: 139,702,224 (GRCm39)	S340C	probably damaging	Het
Npsr1	T	C	9: 24,211,715 (GRCm39)	I81T	probably damaging	Het
Or2bd2	G	T	7: 6,443,169 (GRCm39)	R90L	probably benign	Het
Or2t49	A	G	11: 58,392,431 (GRCm39)	V317A	probably benign	Het
Or6x1	T	A	9: 40,099,005 (GRCm39)	L198H	possibly damaging	Het
Or8b56	T	A	9: 38,739,762 (GRCm39)	F258L	possibly damaging	Het
Pax3	T	C	1: 78,080,055 (GRCm39)	T444A	probably benign	Het
Pea15a	A	G	1: 172,026,809 (GRCm39)		probably null	Het
Phc1	T	A	6: 122,311,051 (GRCm39)	Q95L	possibly damaging	Het
Plch2	T	C	4: 155,084,594 (GRCm39)	Y361C	probably damaging	Het
Pphln1-ps1	A	T	16: 13,494,977 (GRCm39)	R25S	possibly damaging	Het
Rad54l2	C	T	9: 106,583,057 (GRCm39)	G787D	probably damaging	Het
Rbm20	G	T	19: 53,823,136 (GRCm39)	E578*	probably null	Het
Sipa1l2	A	T	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thumpd1	A	G	7: 119,319,943 (GRCm39)	S8P	probably benign	Het
Tnxb	T	C	17: 34,908,567 (GRCm39)	Y1407H	probably damaging	Het
Trav2	T	A	14: 52,805,290 (GRCm39)	V37E	probably damaging	Het
Trav3-1	G	T	14: 52,818,494 (GRCm39)	W56L	probably damaging	Het
Usp31	A	T	7: 121,250,749 (GRCm39)	L808Q	probably damaging	Het
Vmn1r52	C	T	6: 90,155,894 (GRCm39)	A66V	probably benign	Het
Vmn2r105	T	A	17: 20,455,044 (GRCm39)	I31L	probably benign	Het
Wdr1	C	T	5: 38,686,931 (GRCm39)	G278S	probably damaging	Het
Zbtb2	G	T	10: 4,319,275 (GRCm39)	F250L	probably benign	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
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
R5835:4930505A04Rik	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'- TCCAGCAACTCTTGGGAATTC -3'
(R):5'- CACAGGCTCTTCTCTGACTG -3'

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

Posted On

2016-10-06