Mutagenetix > Incidental Mutations

Incidental Mutation 'R4431:0610040J01Rik'

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328606

Institutional Source

Beutler Lab

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

MMRRC Submission

041146-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R4431 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

63812363-63899625 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 63898839 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142539 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000081747
AA Change: G306V

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: G306V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196367

Predicted Effect

probably benign
Transcript: ENSMUST00000196575

Predicted Effect

probably benign
Transcript: ENSMUST00000199667

Meta Mutation Damage Score

0.1690

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,941,565	S181P	probably benign	Het
4930522L14Rik	A	T	5: 109,736,574	C473S	possibly damaging	Het
4930523C07Rik	A	T	1: 160,044,579		noncoding transcript	Het
9230110C19Rik	A	G	9: 8,027,177	V120A	probably damaging	Het
Aak1	A	G	6: 86,986,318	K910R	unknown	Het
Abca2	A	G	2: 25,442,852	D1521G	probably benign	Het
Adamts20	C	A	15: 94,344,043	D695Y	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Bspry	T	A	4: 62,482,667	I132N	possibly damaging	Het
Cfh	T	C	1: 140,136,266	Y424C	probably damaging	Het
Chd2	T	C	7: 73,435,961	R1642G	possibly damaging	Het
Chrm2	A	G	6: 36,524,162	D318G	probably benign	Het
Chrna4	A	G	2: 181,028,620	S448P	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Dock8	T	C	19: 25,065,390	V112A	probably benign	Het
Fbxo42	C	A	4: 141,200,550	R714S	probably damaging	Het
Fmo1	G	A	1: 162,833,712	A334V	possibly damaging	Het
Gpr68	A	T	12: 100,899,391		probably benign	Het
Gramd4	A	G	15: 86,130,160	K345R	probably damaging	Het
Gtpbp1	T	G	15: 79,716,197	S444A	probably damaging	Het
Ints12	T	C	3: 133,102,481	Y207H	probably damaging	Het
Kat2b-ps	A	T	5: 93,392,584		noncoding transcript	Het
Klhl25	T	A	7: 75,865,414	F23I	probably damaging	Het
Lamc1	A	G	1: 153,221,528	I1590T	probably damaging	Het
Lhfpl4	A	G	6: 113,193,844	I127T	possibly damaging	Het
Lrrc71	A	G	3: 87,742,836	S286P	possibly damaging	Het
Man1c1	A	T	4: 134,703,018	V151D	probably damaging	Het
Mipol1	G	A	12: 57,303,524	R36Q	possibly damaging	Het
Nuggc	T	A	14: 65,611,210	W187R	probably benign	Het
Olfr1243	A	G	2: 89,527,643	Y256H	probably damaging	Het
Pkhd1	G	A	1: 20,523,314	T1525I	probably damaging	Het
Pomp	A	G	5: 147,875,479	E125G	probably damaging	Het
Ptar1	G	T	19: 23,694,331	G33C	probably damaging	Het
Ptpn3	A	G	4: 57,235,355	S335P	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Shank1	C	T	7: 44,319,652	R324*	probably null	Het
Slc12a3	A	T	8: 94,343,085	I541F	probably damaging	Het
Slc12a9	G	A	5: 137,321,513	P580L	probably benign	Het
Spz1	A	G	13: 92,575,329	L213P	probably damaging	Het
Strn	A	G	17: 78,736,462	V9A	probably damaging	Het
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trf	T	C	9: 103,211,876	N243S	possibly damaging	Het
Ttc3	T	C	16: 94,410,958		probably null	Het
Uhrf1bp1	A	G	17: 27,885,931	N533S	probably damaging	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vps13b	A	C	15: 35,770,753	Q2114P	probably damaging	Het
Wdfy1	T	A	1: 79,713,866	R275*	probably null	Het
Wnt2b	A	G	3: 104,952,940	L217S	probably damaging	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
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
R8070:0610040J01Rik	UTSW	5	63898167	missense	probably benign	0.01
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'- AGAGAAGCTGGGACTCACTG -3'
(R):5'- TGCCCTATACAGCAAGCAGC -3'

Sequencing Primer
(F):5'- TCACTGAATGAGGCAGGGACC -3'
(R):5'- GAGTAGGCACATGCTTCTA -3'

Posted On

2015-07-21