Mutagenetix > Incidental Mutation

Incidental Mutation 'R8700:4933414I15Rik'

669011

Institutional Source

Beutler Lab

Gene Symbol

4933414I15Rik

Ensembl Gene

ENSMUSG00000072983

Gene Name

RIKEN cDNA 4933414I15 gene

Synonyms

ENSMUSG00000051192

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50940711-50943765 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50942517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 86 (D86V)

Ref Sequence

ENSEMBL: ENSMUSP00000104751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109123]

AlphaFold

Q9D4D5

Predicted Effect

unknown
Transcript: ENSMUST00000109123
AA Change: D86V

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,292,025	I1717N	possibly damaging	Het
Abtb2	C	A	2: 103,566,944	T73K	probably damaging	Het
Akr1c14	T	C	13: 4,081,157		probably benign	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ano7	T	G	1: 93,388,607	I204S	probably damaging	Het
Arhgef39	T	A	4: 43,496,715	Q333L	probably benign	Het
Art5	T	C	7: 102,099,655		probably benign	Het
Asah1	T	C	8: 41,360,275	T34A	probably benign	Het
Atp9b	T	C	18: 80,753,146	E894G		Het
Atxn7l3	A	T	11: 102,293,921	M126K	possibly damaging	Het
Cacna2d4	A	G	6: 119,281,693	D580G	probably damaging	Het
Calcoco2	T	A	11: 96,103,504	K74N	probably benign	Het
Ccdc163	T	C	4: 116,714,151		probably null	Het
Cep164	T	C	9: 45,775,369		probably null	Het
Chd7	T	A	4: 8,833,892	N1215K	probably damaging	Het
Chsy3	T	C	18: 59,176,415	Y247H	probably damaging	Het
Clec16a	A	G	16: 10,688,558	Y714C	probably damaging	Het
Col12a1	A	G	9: 79,620,089	V2653A	probably benign	Het
D430042O09Rik	A	G	7: 125,829,870		probably benign	Het
Daam2	T	A	17: 49,496,152	K77N	probably damaging	Het
Dhx35	T	A	2: 158,840,632	M495K	possibly damaging	Het
Disp2	T	A	2: 118,789,859	C357*	probably null	Het
Dnah6	T	A	6: 73,075,890		probably benign	Het
Dnah7a	T	G	1: 53,495,929	D2724A	possibly damaging	Het
Entpd5	A	T	12: 84,396,734	D53E	probably damaging	Het
Fto	T	A	8: 91,522,833	I431N	probably damaging	Het
Gabrr2	T	C	4: 33,095,488	I459T	probably damaging	Het
Gm5565	T	A	5: 146,160,426	I29F	probably damaging	Het
Gm9195	C	T	14: 72,482,731	G87R	probably damaging	Het
Grin2a	T	C	16: 9,579,548	S892G	probably benign	Het
Mki67	T	C	7: 135,705,707	N106S		Het
Myo16	T	C	8: 10,413,172	S580P	unknown	Het
Neo1	A	G	9: 58,918,630	S672P	probably benign	Het
Nxph3	A	T	11: 95,510,880	V236E	probably damaging	Het
Olfr1406	G	T	1: 173,183,862	P191T	probably benign	Het
Olfr863-ps1	A	C	9: 19,941,700	L247V	unknown	Het
Pcdhb14	T	C	18: 37,449,599	V586A	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pja2	C	T	17: 64,292,954	D512N	probably damaging	Het
Ppfibp2	A	G	7: 107,746,395	T875A	possibly damaging	Het
Ppp3cc	C	A	14: 70,236,552	C332F	probably damaging	Het
Pramef25	T	A	4: 143,949,131	H375L	possibly damaging	Het
Psg18	A	T	7: 18,353,625	V36D	probably damaging	Het
Ptprh	A	G	7: 4,564,191	S561P	probably damaging	Het
Rhbdf2	G	A	11: 116,607,404		probably benign	Het
Ripk2	T	A	4: 16,158,422	N61I	possibly damaging	Het
Setdb2	T	C	14: 59,417,439	Y318C	probably damaging	Het
Shc1	A	G	3: 89,427,433	D533G	possibly damaging	Het
Sirpb1a	T	C	3: 15,411,359	E193G	probably damaging	Het
Slc41a2	T	C	10: 83,316,233	E126G	probably damaging	Het
Srms	C	A	2: 181,206,728	A413S	probably damaging	Het
Tob2	G	T	15: 81,851,601	R56S	probably damaging	Het
Unc119	T	C	11: 78,347,311	I105T	probably benign	Het
Unc13c	T	C	9: 73,572,397	I1742V	probably benign	Het
Vmn1r46	C	T	6: 89,976,343	T58I	probably benign	Het
Vmn2r81	G	T	10: 79,293,683	V803F	probably damaging	Het
Zfp365	T	C	10: 67,909,705	K81R	possibly damaging	Het
Zfp974	G	T	7: 27,910,047	T751K	possibly damaging	Het
Zfpl1	T	C	19: 6,082,434	N149S	probably benign	Het

Other mutations in 4933414I15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02269:4933414I15Rik	APN	11	50942598	missense	unknown
IGL02598:4933414I15Rik	APN	11	50943621	start codon destroyed	probably null
BB010:4933414I15Rik	UTSW	11	50942400	missense	unknown
BB020:4933414I15Rik	UTSW	11	50942400	missense	unknown
R2384:4933414I15Rik	UTSW	11	50942506	missense	unknown
R5226:4933414I15Rik	UTSW	11	50942589	missense	unknown
R6514:4933414I15Rik	UTSW	11	50942742	missense	unknown
R7933:4933414I15Rik	UTSW	11	50942400	missense	unknown
R8219:4933414I15Rik	UTSW	11	50942536	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCCCAATCTAAGTTTGGGGC -3'
(R):5'- AGTGATGCGACTGCTGTGAG -3'

Sequencing Primer
(F):5'- CACCAGCTAAGATAGAGGGAATCTG -3'
(R):5'- TGTGGCTATAACCTGCAGC -3'

Posted On

2021-04-30