Mutagenetix > Incidental Mutation

Incidental Mutation 'R8202:4930474N05Rik'

635729

Institutional Source

Beutler Lab

Gene Symbol

4930474N05Rik

Ensembl Gene

ENSMUSG00000096405

Gene Name

RIKEN cDNA 4930474N05 gene

Synonyms

MMRRC Submission

067625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8202 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36094917-36100114 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36095100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 36 (R36C)

Ref Sequence

ENSEMBL: ENSMUSP00000136756 (fasta)

Gene Model

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

AlphaFold

Q8BVR5

Predicted Effect

probably benign
Transcript: ENSMUST00000177985
AA Change: R36C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000136756
Gene: ENSMUSG00000096405
AA Change: R36C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186722
AA Change: R36C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B020011L13Rik	A	T	1: 117,801,144	H127L	probably damaging	Het
B4galt4	A	G	16: 38,767,912	Q306R	probably benign	Het
Bckdha	G	A	7: 25,630,313	H431Y	probably damaging	Het
Cacna1e	T	A	1: 154,398,449	M2256L	probably benign	Het
Ccar1	A	T	10: 62,771,989	F298L	possibly damaging	Het
Ceacam3	G	A	7: 17,163,028	A640T		Het
Cers3	A	G	7: 66,786,013	D240G	probably damaging	Het
Ces1d	T	C	8: 93,192,867	E99G	probably benign	Het
Dnah2	A	G	11: 69,478,823	V1609A	probably benign	Het
Fer1l6	T	C	15: 58,630,637	F1329S	probably damaging	Het
Fry	A	G	5: 150,431,737	Q1825R	probably damaging	Het
Guf1	C	A	5: 69,563,202	A335E	possibly damaging	Het
Heatr6	C	A	11: 83,759,408	T230K	possibly damaging	Het
Klhl11	G	A	11: 100,463,324	S557L	probably benign	Het
Map10	A	G	8: 125,670,908	N347D	possibly damaging	Het
Myh7	T	C	14: 54,990,040	I313V	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nmral1	G	A	16: 4,714,584	T131M	probably damaging	Het
Npr1	T	A	3: 90,461,424	Y443F	probably benign	Het
Ntn4	A	G	10: 93,644,903	N163S	possibly damaging	Het
Nufip1	A	G	14: 76,111,164	I78V	probably benign	Het
Olfr1052	A	T	2: 86,298,624	E269D	probably benign	Het
Olfr645	A	G	7: 104,084,991	S30P	probably benign	Het
Olfr810	T	C	10: 129,790,649	*313W	probably null	Het
Oplah	C	T	15: 76,302,469	G670D	probably benign	Het
Pcnx	T	G	12: 81,895,047	I73S	probably benign	Het
Pigp	A	T	16: 94,364,669	N204K	probably benign	Het
Prelid2	T	A	18: 41,932,737	I78F	possibly damaging	Het
Ptprb	A	G	10: 116,353,845	Y1516C	probably damaging	Het
Rab31	T	C	17: 65,667,886	E157G	probably damaging	Het
Rars2	T	C	4: 34,656,180	Y445H	probably damaging	Het
Rnf220	T	A	4: 117,489,873	H114L	probably damaging	Het
Ryr1	A	G	7: 29,091,032	W1450R	probably benign	Het
Slamf6	A	G	1: 171,934,219	Y69C	probably benign	Het
Smc3	T	C	19: 53,628,692	I512T	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
St3gal3	T	A	4: 118,107,671		probably benign	Het
Tbc1d23	A	G	16: 57,191,554	F338L	probably damaging	Het
Tgs1	G	A	4: 3,586,097	A325T	probably benign	Het
Tmem30a	A	T	9: 79,774,212	I261K	probably damaging	Het
Trim3	A	T	7: 105,611,425	H662Q	possibly damaging	Het
Unc13c	C	T	9: 73,736,562	V1207M	probably damaging	Het
Vmn1r91	A	T	7: 20,101,824	I223F	probably damaging	Het
Vmn2r33	A	T	7: 7,554,154	C516S	possibly damaging	Het
Vps13c	T	C	9: 67,944,046	V2321A	probably damaging	Het
Zan	G	T	5: 137,389,327	T4874K	unknown	Het
Zfp677	T	C	17: 21,393,273	L43S	probably damaging	Het
Zfp709	A	G	8: 71,888,916		probably null	Het

Other mutations in 4930474N05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:4930474N05Rik	APN	14	36096422	missense	possibly damaging	0.54
IGL01694:4930474N05Rik	APN	14	36096702	makesense	probably null
IGL02821:4930474N05Rik	APN	14	36096516	missense	probably benign	0.19
R0071:4930474N05Rik	UTSW	14	36090789	unclassified	probably benign
R0537:4930474N05Rik	UTSW	14	36096700	missense	probably benign	0.07
R0960:4930474N05Rik	UTSW	14	36096410	missense	probably benign	0.01
R1919:4930474N05Rik	UTSW	14	36095457	missense	possibly damaging	0.48
R2338:4930474N05Rik	UTSW	14	36095152	missense	probably benign
R3837:4930474N05Rik	UTSW	14	36095478	missense	probably benign	0.03
R4192:4930474N05Rik	UTSW	14	36096579	missense	possibly damaging	0.94
R4193:4930474N05Rik	UTSW	14	36096579	missense	possibly damaging	0.94
R4526:4930474N05Rik	UTSW	14	36096578	missense	probably damaging	1.00
R7007:4930474N05Rik	UTSW	14	36095164	missense	probably benign	0.18
R7302:4930474N05Rik	UTSW	14	36095349	missense	probably benign	0.00
R7998:4930474N05Rik	UTSW	14	36096692	missense	probably benign	0.22
R8714:4930474N05Rik	UTSW	14	36096499	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACATAGCCAAGTTCTGAGAGGC -3'
(R):5'- CTGATGGGAGACTCTCTACGTG -3'

Sequencing Primer
(F):5'- AAGTTCTGAGAGGCAGCCC -3'
(R):5'- TCAGATCCTGTGGGGGAGAAATATTC -3'

Posted On

2020-07-13