Mutagenetix > Incidental Mutation

Incidental Mutation 'R4192:4930474N05Rik'

318368

Institutional Source

Beutler Lab

Gene Symbol

4930474N05Rik

Ensembl Gene

ENSMUSG00000096405

Gene Name

RIKEN cDNA 4930474N05 gene

Synonyms

MMRRC Submission

041023-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35816899-35819358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35818536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 178 (R178L)

Ref Sequence

ENSEMBL: ENSMUSP00000153709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177985] [ENSMUST00000186722] [ENSMUST00000226305]

AlphaFold

Q8BVR5

Predicted Effect

probably benign
Transcript: ENSMUST00000177985

SMART Domains

Protein: ENSMUSP00000136756
Gene: ENSMUSG00000096405

Domain	Start	End	E-Value	Type
RasGEFN	65	184	3.19e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186722

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226305
AA Change: R178L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.4242

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	T	C	12: 84,089,948 (GRCm39)		probably benign	Het
Add3	C	A	19: 53,230,955 (GRCm39)	D543E	probably benign	Het
Angpt4	A	C	2: 151,785,238 (GRCm39)	D418A	probably benign	Het
Ano8	A	T	8: 71,935,936 (GRCm39)	V260D	probably damaging	Het
Cfh	C	T	1: 140,030,454 (GRCm39)	R860H	possibly damaging	Het
Csmd3	T	C	15: 47,710,667 (GRCm39)	D1536G	probably damaging	Het
Dnajb9	A	T	12: 44,253,860 (GRCm39)	D182E	probably benign	Het
Epb42	G	T	2: 120,860,570 (GRCm39)		probably null	Het
Fam185a	T	A	5: 21,630,122 (GRCm39)		probably benign	Het
Fer1l6	A	G	15: 58,518,998 (GRCm39)	D1710G	probably damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gm8369	C	T	19: 11,479,596 (GRCm39)	P9S	probably damaging	Het
Il17ra	A	G	6: 120,458,472 (GRCm39)	D541G	probably damaging	Het
Ints4	T	G	7: 97,156,940 (GRCm39)	H337Q	probably damaging	Het
Itgam	A	G	7: 127,663,904 (GRCm39)	T44A	probably benign	Het
Lyst	C	A	13: 13,915,098 (GRCm39)	T3264N	probably damaging	Het
Macf1	A	G	4: 123,366,835 (GRCm39)	F1077S	possibly damaging	Het
Myo3a	T	A	2: 22,412,188 (GRCm39)	F728I	probably damaging	Het
Nacad	T	C	11: 6,555,534 (GRCm39)	E72G	probably benign	Het
Nkain3	G	A	4: 20,485,003 (GRCm39)	Q25*	probably null	Het
Oca2	T	C	7: 55,946,997 (GRCm39)	F342S	probably damaging	Het
Or10d1c	T	A	9: 38,894,313 (GRCm39)	Q9L	probably benign	Het
Osbpl6	T	A	2: 76,415,573 (GRCm39)	L499Q	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Peak1	A	T	9: 56,166,025 (GRCm39)	N634K	probably damaging	Het
Pitpnm3	T	C	11: 71,942,785 (GRCm39)	K818R	possibly damaging	Het
Rab3gap1	T	A	1: 127,853,207 (GRCm39)		probably benign	Het
Rcc1l	T	C	5: 134,184,648 (GRCm39)	T385A	probably benign	Het
Rrm2	T	C	12: 24,758,377 (GRCm39)	I11T	probably benign	Het
Scnn1b	A	G	7: 121,501,962 (GRCm39)	T207A	possibly damaging	Het
Spata31f3	A	T	4: 42,874,185 (GRCm39)		probably benign	Het
Syt12	T	A	19: 4,497,709 (GRCm39)		probably benign	Het
Tmprss6	A	T	15: 78,330,857 (GRCm39)		probably null	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Ube2q2l	T	C	6: 136,378,435 (GRCm39)	T132A	probably benign	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r27	A	C	6: 58,192,812 (GRCm39)	I14R	probably damaging	Het

Other mutations in 4930474N05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:4930474N05Rik	APN	14	35,818,379 (GRCm39)	missense	possibly damaging	0.54
IGL01694:4930474N05Rik	APN	14	35,818,659 (GRCm39)	makesense	probably null
IGL02821:4930474N05Rik	APN	14	35,818,473 (GRCm39)	missense	probably benign	0.19
R0071:4930474N05Rik	UTSW	14	35,812,746 (GRCm39)	unclassified	probably benign
R0537:4930474N05Rik	UTSW	14	35,818,657 (GRCm39)	missense	probably benign	0.07
R0960:4930474N05Rik	UTSW	14	35,818,367 (GRCm39)	missense	probably benign	0.01
R1919:4930474N05Rik	UTSW	14	35,817,414 (GRCm39)	missense	possibly damaging	0.48
R2338:4930474N05Rik	UTSW	14	35,817,109 (GRCm39)	missense	probably benign
R3837:4930474N05Rik	UTSW	14	35,817,435 (GRCm39)	missense	probably benign	0.03
R4193:4930474N05Rik	UTSW	14	35,818,536 (GRCm39)	missense	possibly damaging	0.94
R4526:4930474N05Rik	UTSW	14	35,818,535 (GRCm39)	missense	probably damaging	1.00
R7007:4930474N05Rik	UTSW	14	35,817,121 (GRCm39)	missense	probably benign	0.18
R7302:4930474N05Rik	UTSW	14	35,817,306 (GRCm39)	missense	probably benign	0.00
R7998:4930474N05Rik	UTSW	14	35,818,649 (GRCm39)	missense	probably benign	0.22
R8202:4930474N05Rik	UTSW	14	35,817,057 (GRCm39)	missense	probably benign	0.01
R8714:4930474N05Rik	UTSW	14	35,818,456 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGGGACTTTACAGGTGATATTC -3'
(R):5'- TCGACTTCCAAGATGGCTGG -3'

Sequencing Primer
(F):5'- ACAGGTGATATTCTGTCTGGTC -3'
(R):5'- GACTTCCAAGATGGCTGGTTTCTTC -3'

Posted On

2015-06-10