Mutagenetix > Incidental Mutations

Incidental Mutation 'R8070:0610040J01Rik'

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620217

Institutional Source

Beutler Lab

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63812363-63899625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63898167 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 82 (E82G)

Ref Sequence

ENSEMBL: ENSMUSP00000080443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081747] [ENSMUST00000196367] [ENSMUST00000196575] [ENSMUST00000199667]

Predicted Effect

probably benign
Transcript: ENSMUST00000081747
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: E82G

Domain	Start	End	E-Value	Type
Pfam:DUF4699	9	313	2.5e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196367
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000196575
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000199667
AA Change: E82G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	G	17: 48,145,510	F86S	probably damaging	Het
Aamdc	A	T	7: 97,575,648	Y2*	probably null	Het
Acta1	T	A	8: 123,893,621	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,561,582	L196R	probably damaging	Het
Agbl2	G	A	2: 90,791,565	C132Y	probably benign	Het
Amd1	A	G	10: 40,294,230	V92A	probably benign	Het
Arid4b	T	A	13: 14,136,259	I149K	probably benign	Het
Atg7	A	G	6: 114,697,080	M312V	probably benign	Het
Bap1	T	A	14: 31,256,686	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 122,642,981	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,632,573	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,719,793	V479L	probably benign	Het
Chd2	A	G	7: 73,451,758	S1407P	probably benign	Het
Clstn2	A	G	9: 97,799,470	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,421,463	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,202,197	D351E	probably benign	Het
Dennd6b	T	C	15: 89,185,373	I517V	probably benign	Het
Dnah17	T	C	11: 118,024,671	E4374G	probably damaging	Het
Emsy	A	G	7: 98,626,715	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,060,982	E65D	probably benign	Het
Fam83f	T	A	15: 80,672,080	L55Q	probably damaging	Het
Fry	T	C	5: 150,478,007	F379L		Het
Fscb	A	T	12: 64,474,608	M28K	probably benign	Het
Gas7	G	A	11: 67,683,434	V412M	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gcn1l1	T	A	5: 115,588,998	V638E	probably benign	Het
Ggt1	A	T	10: 75,578,899	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,440,907	N1103S	probably benign	Het
Gm13757	G	T	2: 88,446,659	T93K	probably benign	Het
Gm5592	G	A	7: 41,286,463	A130T	possibly damaging	Het
Gys2	T	C	6: 142,448,504		probably null	Het
Hmcn1	C	A	1: 150,649,992	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,880,036	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,074,105	T89M	probably damaging	Het
Ipo7	A	G	7: 110,052,807	D931G	probably benign	Het
Jakmip1	A	G	5: 37,173,287	E437G	probably benign	Het
Lingo3	C	T	10: 80,836,121		probably benign	Het
Lnpep	A	G	17: 17,538,638	S815P	probably damaging	Het
Ly6a	T	C	15: 74,997,600	D2G	probably damaging	Het
Madd	C	A	2: 91,158,014	E1223*	probably null	Het
Mapk8ip3	A	T	17: 24,901,104		probably null	Het
Mecom	T	C	3: 29,979,838	E239G	probably damaging	Het
Mug1	T	C	6: 121,875,879	V889A	probably benign	Het
Myo18b	T	A	5: 112,791,120	N1675I	probably benign	Het
Ndrg4	T	C	8: 95,700,128	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,714,644	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfm3	A	G	3: 115,101,955	D195G	probably damaging	Het
Olfr1384	A	T	11: 49,514,114	T159S	probably damaging	Het
Pds5a	A	G	5: 65,652,398	L407P	possibly damaging	Het
Pgm1	A	G	5: 64,112,082	N504S	probably benign	Het
Plce1	A	G	19: 38,701,839	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,239,624	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,876,069	S451G	probably benign	Het
Prox1	T	G	1: 190,160,910	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,353,279	R1195S	probably damaging	Het
Rere	A	G	4: 150,617,375	D37G	probably damaging	Het
Tfip11	T	A	5: 112,334,930	M560K	possibly damaging	Het
Thop1	T	C	10: 81,079,486	V260A	probably damaging	Het
Tle6	A	G	10: 81,598,642	M41T	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,792	S68P	possibly damaging	Het
Trim24	A	G	6: 37,957,726	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,278,470	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,922,487	I502V	probably benign	Het
Vmn2r79	A	T	7: 87,002,128	Y245F	probably benign	Het

Other mutations in 0610040J01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:0610040J01Rik	APN	5	63898383	missense	possibly damaging	0.79
IGL02229:0610040J01Rik	APN	5	63898353	missense	probably damaging	0.99
IGL02389:0610040J01Rik	APN	5	63896483	missense	probably null	1.00
IGL02411:0610040J01Rik	APN	5	63898116	missense	probably benign	0.31
R0243:0610040J01Rik	UTSW	5	63898463	missense	probably benign	0.10
R0411:0610040J01Rik	UTSW	5	63896491	splice site	probably benign
R1978:0610040J01Rik	UTSW	5	63898537	nonsense	probably null
R2072:0610040J01Rik	UTSW	5	63898737	missense	possibly damaging	0.83
R2202:0610040J01Rik	UTSW	5	63898668	missense	possibly damaging	0.91
R3161:0610040J01Rik	UTSW	5	63896490	splice site	probably benign
R3162:0610040J01Rik	UTSW	5	63896490	splice site	probably benign
R4428:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4429:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4430:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4431:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4464:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4465:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4467:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4491:0610040J01Rik	UTSW	5	63898469	missense	probably damaging	1.00
R5161:0610040J01Rik	UTSW	5	63898001	nonsense	probably null
R6115:0610040J01Rik	UTSW	5	63897974	missense	probably damaging	1.00
R6273:0610040J01Rik	UTSW	5	63898218	missense	probably damaging	1.00
R7445:0610040J01Rik	UTSW	5	63898619	missense	probably damaging	0.99
R7593:0610040J01Rik	UTSW	5	63898431	missense	probably damaging	0.97
R8140:0610040J01Rik	UTSW	5	63898611	missense	possibly damaging	0.83
R8165:0610040J01Rik	UTSW	5	63897946	splice site	probably null
R8557:0610040J01Rik	UTSW	5	63898611	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGATCCAGTTCAAGTGCCCTC -3'
(R):5'- GGCAGCTTTGCTTCCTGTAGTC -3'

Sequencing Primer
(F):5'- CGCCTGGTTTTGTCAATGAAGTAAAC -3'
(R):5'- CCTGTAGTCTTCTCCTTCAAGG -3'

Posted On

2020-01-23