Mutagenetix > Incidental Mutation

Incidental Mutation 'R4526:4930474N05Rik'

334456

Institutional Source

Beutler Lab

Gene Symbol

4930474N05Rik

Ensembl Gene

ENSMUSG00000096405

Gene Name

RIKEN cDNA 4930474N05 gene

Synonyms

MMRRC Submission

041591-MU

Accession Numbers

Essential gene?

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

Stock #

R4526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35816899-35819358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35818535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 178 (R178C)

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

probably damaging
Transcript: ENSMUST00000226305
AA Change: R178C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgre4	C	A	17: 56,092,016 (GRCm39)	S92*	probably null	Het
Arl13b	T	C	16: 62,632,374 (GRCm39)	D73G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Crebzf	A	C	7: 90,092,968 (GRCm39)	E16A	possibly damaging	Het
D430041D05Rik	A	G	2: 104,022,778 (GRCm39)		probably null	Het
Dnah1	C	A	14: 31,007,955 (GRCm39)	D2151Y	probably benign	Het
Gli3	A	G	13: 15,888,216 (GRCm39)	K544E	probably damaging	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Lcn9	A	C	2: 25,714,520 (GRCm39)	K128T	possibly damaging	Het
Lman2l	T	C	1: 36,477,844 (GRCm39)	E164G	probably damaging	Het
Lpin2	T	A	17: 71,544,373 (GRCm39)		probably null	Het
Ly75	G	A	2: 60,161,117 (GRCm39)	T900M	probably benign	Het
Mapk15	A	T	15: 75,867,104 (GRCm39)	I74F	possibly damaging	Het
Myh10	C	T	11: 68,705,875 (GRCm39)	T2007I	probably benign	Het
Nek1	T	C	8: 61,559,978 (GRCm39)	S937P	probably damaging	Het
Oas1b	T	A	5: 120,960,167 (GRCm39)		probably null	Het
Or4x6	T	C	2: 89,949,016 (GRCm39)	K309E	probably benign	Het
Or5l13	T	C	2: 87,779,753 (GRCm39)	T275A	probably benign	Het
Or8h8	C	T	2: 86,753,339 (GRCm39)	C179Y	possibly damaging	Het
Otogl	G	A	10: 107,722,841 (GRCm39)	P297S	probably damaging	Het
Plekhm1	A	G	11: 103,286,130 (GRCm39)	S102P	probably damaging	Het
Plvap	G	A	8: 71,960,415 (GRCm39)	R334W	probably damaging	Het
Polr2b	T	G	5: 77,474,561 (GRCm39)	V466G	probably damaging	Het
Ptpn13	T	C	5: 103,649,335 (GRCm39)	I246T	probably benign	Het
Rims2	A	T	15: 39,301,113 (GRCm39)	K281N	probably damaging	Het
Scamp4	T	C	10: 80,446,891 (GRCm39)	F108S	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sntb2	C	A	8: 107,736,595 (GRCm39)	L490M	probably damaging	Het
Ssu2	A	G	6: 112,359,383 (GRCm39)	V79A	possibly damaging	Het
Stard7	A	G	2: 127,139,128 (GRCm39)	S347G	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r6	A	G	3: 64,445,145 (GRCm39)	V860A	probably benign	Het
Vmn2r60	A	G	7: 41,844,667 (GRCm39)	T677A	probably damaging	Het
Zfp318	T	A	17: 46,723,284 (GRCm39)	H1762Q	probably benign	Het
Zmynd8	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 165,649,527 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,935,328 (GRCm39)	Y59H	probably benign	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
R4192:4930474N05Rik	UTSW	14	35,818,536 (GRCm39)	missense	possibly damaging	0.94
R4193:4930474N05Rik	UTSW	14	35,818,536 (GRCm39)	missense	possibly damaging	0.94
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'- ACAGGTGATATTCTGTCTGGTCTTC -3'
(R):5'- TCCAAGATGGCTGGTTTCTTC -3'

Sequencing Primer
(F):5'- GTCTGGTCTTCTCTAGGTATCCATAC -3'
(R):5'- AAGATGGCTGGTTTCTTCTTTACC -3'

Posted On

2015-08-18