Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:0610040J01Rik'

List |< first << previous [record 82 of 523071] next >> last >|

328558

Institutional Source

Beutler Lab

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4430 (G1)

Quality Score

198

Status

Not 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: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	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
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
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'- AGAAGCTGGGACTCACTGAATG -3'
(R):5'- TGCCCTATACAGCAAGCAG -3'

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

Posted On

2015-07-21