Mutagenetix > Incidental Mutations

Incidental Mutation 'R6115:0610040J01Rik'

485067

Institutional Source

Beutler Lab

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

MMRRC Submission

044264-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R6115 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63812363-63899625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 63897974 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 18 (Q18E)

Ref Sequence

ENSEMBL: ENSMUSP00000142473 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000081747
AA Change: Q18E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: Q18E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196367
AA Change: Q18E

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000196575
AA Change: Q18E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199667
AA Change: Q18E

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	A	8: 122,790,672	H402Q	probably damaging	Het
Adam34	T	G	8: 43,652,061	Q182H	probably benign	Het
Alx1	G	A	10: 103,028,443	P55L	possibly damaging	Het
Arhgef38	A	T	3: 133,132,613		probably null	Het
Ccdc102a	T	C	8: 94,903,371	N514S	probably benign	Het
Corin	T	A	5: 72,360,729	T317S	probably damaging	Het
Ctnna2	A	G	6: 77,636,839	V256A	probably benign	Het
Dhx29	A	T	13: 112,952,801		probably null	Het
Dnah2	C	A	11: 69,446,649	D3209Y	probably damaging	Het
Dnhd1	A	G	7: 105,713,987	T3919A	probably benign	Het
F7	T	A	8: 13,033,958	N214K	probably benign	Het
Fam3b	T	G	16: 97,475,368	Q177H	possibly damaging	Het
Fign	T	C	2: 63,979,310	I539V	probably benign	Het
Hc	T	G	2: 35,013,038	D1067A	probably damaging	Het
Herc6	A	G	6: 57,583,206	D77G	probably benign	Het
Hmg20a	A	T	9: 56,489,832	E305D	possibly damaging	Het
Il16	G	A	7: 83,652,567	Q116*	probably null	Het
Kif13a	T	A	13: 46,801,313	I648F	probably damaging	Het
Lactb	G	T	9: 66,967,687	N374K	possibly damaging	Het
Lmx1b	T	C	2: 33,569,106	D145G	probably damaging	Het
Lrfn4	T	C	19: 4,613,909	D199G	probably damaging	Het
Lrrc49	A	T	9: 60,615,161	V307E	possibly damaging	Het
Magi1	A	C	6: 93,708,070	S776A	possibly damaging	Het
Mthfsl	T	A	9: 88,688,754	*147L	probably null	Het
Nsmce4a	G	T	7: 130,546,992	Q95K	probably benign	Het
Olfr1281	A	G	2: 111,329,213	T265A	probably benign	Het
Olfr1299	A	T	2: 111,664,642	K139*	probably null	Het
Olfr1449	T	C	19: 12,935,584	V282A	possibly damaging	Het
Olfr344	A	T	2: 36,568,951	M118L	probably damaging	Het
Pcdha7	A	G	18: 36,974,735	E271G	probably damaging	Het
Pcdhga8	T	A	18: 37,727,543	F551I	possibly damaging	Het
Prpf31	T	C	7: 3,639,706		probably null	Het
Qrfpr	C	T	3: 36,182,593	V220I	possibly damaging	Het
Rnf170	T	C	8: 26,125,966	F95S	possibly damaging	Het
Scn9a	T	A	2: 66,563,629	Y200F	possibly damaging	Het
Sfpq	A	T	4: 127,021,348		probably null	Het
Slc9c1	A	T	16: 45,555,769	Y406F	probably damaging	Het
Stk32c	G	T	7: 139,120,712	Y200*	probably null	Het
Svil	A	G	18: 5,108,675	R1938G	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tm9sf4	T	C	2: 153,182,489		probably null	Het
Tmc3	A	T	7: 83,614,962	M633L	possibly damaging	Het
Tmem163	T	C	1: 127,677,448	D61G	possibly damaging	Het
Unc5b	C	A	10: 60,777,546	A304S	probably benign	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Vmn2r18	A	T	5: 151,584,997	S221T	possibly damaging	Het
Vmn2r85	T	G	10: 130,422,803	Y461S	probably damaging	Het
Yod1	T	C	1: 130,719,063	F226L	possibly damaging	Het
Zbtb4	T	C	11: 69,776,322	I151T	probably damaging	Het
Zfp110	A	T	7: 12,849,774	Q783L	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
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
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'- GTCCAGTCACCTGTACTGTG -3'
(R):5'- AGGTAGACCAGTTGTACTGCCTC -3'

Sequencing Primer
(F):5'- GATTAACTAATGACCTGACTTCCCAG -3'
(R):5'- GTACTGCCTCTGCTCTCTGAATTG -3'

Posted On

2017-08-16