Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:4930486L24Rik'

353465

Institutional Source

Beutler Lab

Gene Symbol

4930486L24Rik

Ensembl Gene

ENSMUSG00000050345

Gene Name

RIKEN cDNA 4930486L24 gene

Synonyms

MMRRC Submission

041956-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60842612-60864475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60844318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 298 (V298A)

Ref Sequence

ENSEMBL: ENSMUSP00000089157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000091569
AA Change: V298A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: V298A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Inhibitor_I29	29	88	1e-19	SMART
Pept_C1	114	332	7.93e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225690

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca12	A	G	1: 71,321,450	V534A	probably benign	Het
Abcb4	A	G	5: 8,930,906		probably null	Het
Adam30	A	T	3: 98,162,854	S668C	probably damaging	Het
Ap1g1	T	A	8: 109,829,620	V196D	probably damaging	Het
Atp11b	G	A	3: 35,834,394	V738I	probably benign	Het
Cast	C	T	13: 74,798,715	V27I	probably damaging	Het
Cfap54	A	G	10: 92,815,918	I3090T	probably benign	Het
Cgn	C	A	3: 94,779,438	G185W	probably damaging	Het
Champ1	T	C	8: 13,878,063	Y74H	probably damaging	Het
Cpm	T	C	10: 117,675,985	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,102,216	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,895,670	V244M	probably damaging	Het
Defb8	A	G	8: 19,447,559	L12P	probably damaging	Het
Dlg1	A	T	16: 31,790,261	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932	H2178N	possibly damaging	Het
Enam	A	G	5: 88,503,536	E893G	probably damaging	Het
Flt4	T	A	11: 49,627,207	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785	Q1202R	probably benign	Het
Ghr	T	A	15: 3,320,397	D433V	possibly damaging	Het
Grm7	G	A	6: 111,080,422	D328N	possibly damaging	Het
Haus4	T	C	14: 54,542,120	D349G	probably benign	Het
Helz	T	C	11: 107,626,716		probably null	Het
Hif3a	A	G	7: 17,056,271	L69P	probably damaging	Het
Ifit1	A	G	19: 34,648,163	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,455,828	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,110,759	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,659,454	N92S	probably damaging	Het
Metrnl	C	T	11: 121,716,013	A216V	probably damaging	Het
Msh2	A	G	17: 87,718,789	T732A	probably damaging	Het
Necab2	T	C	8: 119,467,595	L270P	probably damaging	Het
Noc3l	T	C	19: 38,815,713	K74E	probably benign	Het
Oas2	A	T	5: 120,733,472	L702Q	probably damaging	Het
Olfr136	A	C	17: 38,335,840	I228L	possibly damaging	Het
Olfr3	A	T	2: 36,813,035	I19N	probably benign	Het
Olfr728	A	G	14: 50,139,979	I220T	possibly damaging	Het
Olfr731	C	A	14: 50,238,367	V173L	possibly damaging	Het
Olfr812	A	T	10: 129,842,945	N32K	probably damaging	Het
Pax6	A	G	2: 105,695,400	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,351,782	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,295,913	F484S	probably damaging	Het
Psme4	T	A	11: 30,832,573	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,632,396		probably null	Het
Rbm47	A	T	5: 66,025,052	Y413N	probably damaging	Het
Rnf123	A	G	9: 108,052,439		probably null	Het
Ruvbl1	T	A	6: 88,484,430	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,190,529	H134R	probably benign	Het
Sorbs2	A	G	8: 45,795,293	D447G	possibly damaging	Het
Tank	C	T	2: 61,650,229	P370S	probably benign	Het
Tenm4	A	G	7: 96,894,924	E2049G	probably damaging	Het
Tnik	A	G	3: 28,594,077	H426R	possibly damaging	Het
Trpm6	C	A	19: 18,854,200	S1476R	possibly damaging	Het
Trpm7	G	A	2: 126,840,783	Q389*	probably null	Het
Ttc28	G	A	5: 111,285,229	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,376,307	S103P	probably damaging	Het
Usp40	C	T	1: 87,967,179		probably null	Het
Vmn1r202	T	A	13: 22,501,807	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,452,231	S64P	probably damaging	Het
Vps13a	A	T	19: 16,749,856	D229E	probably benign	Het
Vps52	A	G	17: 33,961,179	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,341,764	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,110,496	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,427,817	S109P	unknown	Het
Zzef1	T	A	11: 72,837,212	C535S	probably damaging	Het

Other mutations in 4930486L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:4930486L24Rik	APN	13	60854859	missense	probably benign	0.00
IGL01325:4930486L24Rik	APN	13	60853533	missense	probably damaging	1.00
IGL02290:4930486L24Rik	APN	13	60853530	missense	probably damaging	1.00
IGL02861:4930486L24Rik	APN	13	60853332	splice site	probably benign
PIT4514001:4930486L24Rik	UTSW	13	60853514	critical splice donor site	probably null
R0110:4930486L24Rik	UTSW	13	60853506	splice site	probably benign
R1396:4930486L24Rik	UTSW	13	60853243	missense	probably benign	0.00
R1471:4930486L24Rik	UTSW	13	60853522	missense	probably damaging	1.00
R1688:4930486L24Rik	UTSW	13	60854881	missense	probably benign	0.00
R1697:4930486L24Rik	UTSW	13	60845114	missense	probably damaging	1.00
R3838:4930486L24Rik	UTSW	13	60845227	missense	probably damaging	1.00
R4976:4930486L24Rik	UTSW	13	60853573	nonsense	probably null
R5072:4930486L24Rik	UTSW	13	60853600	missense	probably benign	0.00
R5107:4930486L24Rik	UTSW	13	60853658	missense	possibly damaging	0.62
R5699:4930486L24Rik	UTSW	13	60853596	missense	possibly damaging	0.92
R6092:4930486L24Rik	UTSW	13	60853647	missense	probably benign	0.01
R6787:4930486L24Rik	UTSW	13	60853108	missense	probably benign
R6800:4930486L24Rik	UTSW	13	60845134	missense	probably damaging	1.00
R7349:4930486L24Rik	UTSW	13	60842903	missense	possibly damaging	0.52
R7390:4930486L24Rik	UTSW	13	60844338	missense	probably benign	0.00
R7580:4930486L24Rik	UTSW	13	60845226	missense	probably damaging	0.97
R7589:4930486L24Rik	UTSW	13	60842933	missense	probably damaging	1.00
R9304:4930486L24Rik	UTSW	13	60853538	missense	probably damaging	0.98
R9340:4930486L24Rik	UTSW	13	60853833	missense	probably benign	0.20
R9485:4930486L24Rik	UTSW	13	60853245	missense	possibly damaging	0.88
R9489:4930486L24Rik	UTSW	13	60854869	missense	probably damaging	1.00
R9798:4930486L24Rik	UTSW	13	60853120	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CTGCATTCAACCTCTAGGGGATG -3'
(R):5'- ATGAAGACTCTTGTTCCATCTTACC -3'

Sequencing Primer
(F):5'- CATTCAACCTCTAGGGGATGTAGAG -3'
(R):5'- ATACCTCTCTTACATGTTGATGAGG -3'

Posted On

2015-10-21