Mutagenetix > Incidental Mutations

Incidental Mutation 'R4429:0610040J01Rik'

328314

Institutional Source

Beutler Lab

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

MMRRC Submission

041699-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4429 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

63812363-63899625 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 63898839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142539 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,311,410	T390A	probably benign	Het
Ahcyl2	T	G	6: 29,894,875	V452G	probably damaging	Het
Ano4	T	A	10: 88,992,942	N545I	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Catip	T	A	1: 74,368,732		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
Cnpy3	T	A	17: 46,747,144	Q111L	probably benign	Het
Dnah8	A	G	17: 30,752,146	N2725D	probably damaging	Het
Dock8	T	C	19: 25,065,390	V112A	probably benign	Het
Ephb3	G	A	16: 21,214,463	E66K	probably damaging	Het
Gm6594	T	A	17: 82,539,494	D79E	probably benign	Het
Gtf2e2	T	A	8: 33,752,493	Y74*	probably null	Het
Hacd4	A	T	4: 88,434,947	F103I	possibly damaging	Het
Hap1	T	C	11: 100,354,272	T38A	probably benign	Het
Havcr2	T	A	11: 46,456,560	D72E	probably damaging	Het
Iqcg	G	A	16: 33,019,490	T362I	probably benign	Het
Lect2	C	T	13: 56,545,725		probably null	Het
Lemd3	T	C	10: 120,977,988	T447A	probably benign	Het
Lrrc72	T	C	12: 36,208,624	N78S	probably damaging	Het
Map3k14	A	G	11: 103,227,584	L592P	probably damaging	Het
Meioc	T	C	11: 102,675,720	Y721H	probably damaging	Het
Mrps10	T	A	17: 47,378,199		probably null	Het
Myo5c	A	G	9: 75,294,001	Y1406C	probably damaging	Het
Myo7a	T	C	7: 98,053,188	Y2098C	probably damaging	Het
Nol9	C	T	4: 152,041,174	T194I	probably damaging	Het
Nox3	G	A	17: 3,682,958	T206I	probably benign	Het
Nsd2	T	G	5: 33,843,202	M21R	probably damaging	Het
Pcdh9	T	C	14: 93,887,384	N327S	probably damaging	Het
Pclo	T	G	5: 14,678,100		probably benign	Het
Pparg	T	A	6: 115,440,023	M59K	probably benign	Het
Prag1	A	G	8: 36,146,642	K1116R	probably damaging	Het
Rhbdf1	C	T	11: 32,213,369	E368K	probably benign	Het
Rita1	A	G	5: 120,609,561	V224A	probably damaging	Het
Rsph6a	T	A	7: 19,074,063	W384R	probably damaging	Het
Scn1a	A	T	2: 66,350,985	Y65N	possibly damaging	Het
Serpina5	C	A	12: 104,103,406	F292L	probably benign	Het
Sf3b3	A	C	8: 110,826,118	L511V	probably benign	Het
Siglecg	C	T	7: 43,417,926	P639L	possibly damaging	Het
Slc12a3	A	T	8: 94,343,085	I541F	probably damaging	Het
Slco6d1	T	C	1: 98,496,366	V581A	possibly damaging	Het
Sptbn2	T	C	19: 4,738,355	Y1121H	probably damaging	Het
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Timm29	G	C	9: 21,593,479	A148P	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Uba6	C	T	5: 86,120,547	V941I	probably damaging	Het
Vmn1r174	T	C	7: 23,754,140	V77A	probably benign	Het
Zfp661	A	G	2: 127,578,708	V57A	probably damaging	Het
Zfp867	C	T	11: 59,465,037	D64N	possibly damaging	Het
Zp3r	T	C	1: 130,591,391	T294A	possibly 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
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
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'- GAAGCTGGGACTCACTGAATG -3'
(R):5'- GATGCCCTATACAGCAAGCAGC -3'

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

Posted On

2015-07-07