Mutagenetix > Incidental Mutation

Incidental Mutation 'R5333:4930505A04Rik'

423359

Institutional Source

Beutler Lab

Gene Symbol

4930505A04Rik

Ensembl Gene

ENSMUSG00000040919

Gene Name

RIKEN cDNA 4930505A04 gene

Synonyms

MMRRC Submission

042915-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5333 (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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,888,769 (GRCm39)	Y1238*	probably null	Het
Abcb5	A	T	12: 118,831,677 (GRCm39)	V1225D	probably damaging	Het
Arhgef15	A	G	11: 68,838,022 (GRCm39)		probably benign	Het
As3mt	A	G	19: 46,696,635 (GRCm39)	R58G	probably null	Het
Asap1	T	G	15: 63,999,263 (GRCm39)	N525T	possibly damaging	Het
Bhmt2	A	G	13: 93,807,938 (GRCm39)	V50A	probably benign	Het
Bpnt2	A	C	4: 4,767,963 (GRCm39)	V271G	possibly damaging	Het
Ccdc180	A	T	4: 45,890,935 (GRCm39)	I36F	possibly damaging	Het
Cd209c	A	G	8: 3,994,976 (GRCm39)	S63P	probably damaging	Het
Cdc37	T	C	9: 21,054,457 (GRCm39)	E56G	possibly damaging	Het
Cdkal1	T	C	13: 29,510,135 (GRCm39)	Y541C	probably benign	Het
Cenph	G	T	13: 100,898,280 (GRCm39)	H208N	probably benign	Het
Cfap65	A	T	1: 74,942,334 (GRCm39)	L1740Q	probably benign	Het
Cfap74	A	G	4: 155,521,197 (GRCm39)	D623G	probably damaging	Het
Ckap4	C	A	10: 84,363,474 (GRCm39)	V530L	probably damaging	Het
Cldn13	A	T	5: 134,943,869 (GRCm39)	N105K	probably benign	Het
Ddn	T	C	15: 98,703,237 (GRCm39)	D685G	possibly damaging	Het
Fdxr	T	C	11: 115,163,084 (GRCm39)	I70V	probably benign	Het
Fn1	A	T	1: 71,663,339 (GRCm39)	Y1050N	probably damaging	Het
Iqcf3	A	G	9: 106,430,860 (GRCm39)	I96T	possibly damaging	Het
Itgax	A	G	7: 127,741,455 (GRCm39)	Y822C	probably damaging	Het
Katnb1	A	T	8: 95,822,234 (GRCm39)	I286L	possibly damaging	Het
Lrp2	A	C	2: 69,355,572 (GRCm39)	I424R	probably benign	Het
Lrpprc	C	A	17: 85,097,821 (GRCm39)	A41S	probably benign	Het
Mast3	A	G	8: 71,236,145 (GRCm39)	L761P	probably benign	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mpp4	C	A	1: 59,196,600 (GRCm39)	R44L	probably benign	Het
Nalf1	T	A	8: 9,820,762 (GRCm39)	Q86L	possibly damaging	Het
Nkain3	T	A	4: 20,484,889 (GRCm39)	M63L	probably benign	Het
Nup88	A	C	11: 70,835,842 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,953,518 (GRCm39)	C3837S	probably damaging	Het
Ogdh	T	G	11: 6,302,126 (GRCm39)	L850V	probably damaging	Het
Or4f17-ps1	A	G	2: 111,358,048 (GRCm39)	I148V	probably benign	Het
Or5w11	A	G	2: 87,459,458 (GRCm39)	Y217C	probably damaging	Het
Panx2	T	C	15: 88,952,742 (GRCm39)	I411T	possibly damaging	Het
Papss1	T	A	3: 131,348,805 (GRCm39)	M585K	probably damaging	Het
Pcbp2	T	G	15: 102,394,456 (GRCm39)	L180R	possibly damaging	Het
Pcdha7	A	T	18: 37,107,619 (GRCm39)	T215S	probably benign	Het
Pcdhga4	C	T	18: 37,818,477 (GRCm39)	R9C	probably benign	Het
Plin4	A	G	17: 56,411,970 (GRCm39)	V687A	probably benign	Het
Potefam1	A	T	2: 111,024,682 (GRCm39)	Y61N	possibly damaging	Het
Psma6	A	G	12: 55,454,213 (GRCm39)		probably benign	Het
Rcn1	A	T	2: 105,219,471 (GRCm39)	S241T	probably benign	Het
Scgb2b18	A	T	7: 32,872,700 (GRCm39)	L35H	probably damaging	Het
Slc11a1	A	C	1: 74,423,304 (GRCm39)	D385A	probably damaging	Het
Stk31	T	A	6: 49,446,086 (GRCm39)	C930S	probably benign	Het
Syt10	T	A	15: 89,725,932 (GRCm39)	Q14L	probably benign	Het
Tnxb	T	G	17: 34,909,205 (GRCm39)	W1578G	probably damaging	Het
Triml1	C	T	8: 43,583,327 (GRCm39)	A425T	possibly damaging	Het
Vil1	G	A	1: 74,471,549 (GRCm39)	V777I	probably benign	Het
Vmn1r175	T	C	7: 23,508,004 (GRCm39)	I208V	possibly damaging	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
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
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'- CCAGCAACTCTTGGGAATTCTG -3'
(R):5'- CACAGGCTCTTCTCTGACTG -3'

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

Posted On

2016-08-04