Mutagenetix > Incidental Mutation

Incidental Mutation 'R8557:0610040J01Rik'

660149

Institutional Source

Beutler Lab

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

MMRRC Submission

068520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8557 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63969833-64056968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64055954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

Ref Sequence

ENSEMBL: ENSMUSP00000080443 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081747
AA Change: V230A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: V230A

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

Coding Region Coverage

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

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	T	5: 35,985,483 (GRCm39)	H260L	probably damaging	Het
Acp4	C	T	7: 43,905,272 (GRCm39)		probably null	Het
Acvr2b	G	T	9: 119,261,654 (GRCm39)	V416L	probably damaging	Het
Adipoq	A	T	16: 22,965,430 (GRCm39)		probably benign	Het
Amhr2	A	G	15: 102,362,847 (GRCm39)	Q538R	probably benign	Het
Apoh	C	T	11: 108,300,062 (GRCm39)	T237I	probably damaging	Het
Aspm	C	T	1: 139,384,494 (GRCm39)	T97I	probably benign	Het
Atg16l2	A	T	7: 100,939,863 (GRCm39)	H499Q	probably benign	Het
Bicdl2	G	A	17: 23,886,536 (GRCm39)	R375H	probably benign	Het
C3	T	C	17: 57,531,383 (GRCm39)	T304A	probably benign	Het
Cast	A	T	13: 74,852,301 (GRCm39)	D647E	probably damaging	Het
Chrm2	T	C	6: 36,501,010 (GRCm39)	V289A	probably benign	Het
Clock	T	C	5: 76,377,217 (GRCm39)	D694G	probably damaging	Het
Cyp4a31	C	T	4: 115,427,438 (GRCm39)	R215C	possibly damaging	Het
Dctn2	T	C	10: 127,114,062 (GRCm39)	L334P	probably damaging	Het
Dnah11	A	G	12: 117,842,247 (GRCm39)	I4444T	probably benign	Het
Egf	C	A	3: 129,548,600 (GRCm39)	R5L	unknown	Het
Ercc1	A	G	7: 19,082,480 (GRCm39)	N11S	probably benign	Het
Eri3	T	C	4: 117,472,520 (GRCm39)	S113P	possibly damaging	Het
Fasn	A	G	11: 120,706,610 (GRCm39)	V958A	probably benign	Het
Fgf10	A	G	13: 118,918,132 (GRCm39)	K140R	probably benign	Het
Gfra2	G	A	14: 71,214,737 (GRCm39)	M163I	probably benign	Het
Gm14403	T	C	2: 177,201,354 (GRCm39)	I191T	probably damaging	Het
Hdlbp	T	A	1: 93,341,219 (GRCm39)	E977D	probably damaging	Het
Hectd4	A	G	5: 121,448,714 (GRCm39)	N354S	possibly damaging	Het
Hpgds	A	T	6: 65,096,999 (GRCm39)	I170N	probably benign	Het
Limk2	A	G	11: 3,296,379 (GRCm39)	V356A	possibly damaging	Het
Map4	A	G	9: 109,893,370 (GRCm39)		probably null	Het
Mettl13	C	T	1: 162,371,921 (GRCm39)	G316D	possibly damaging	Het
Mia2	T	A	12: 59,148,274 (GRCm39)	L45I	probably damaging	Het
Mier1	T	A	4: 102,996,543 (GRCm39)		probably null	Het
Mob3a	G	T	10: 80,527,008 (GRCm39)	R106S	probably benign	Het
Mug2	T	A	6: 122,040,660 (GRCm39)	F737I	probably damaging	Het
Myo7a	C	T	7: 97,703,081 (GRCm39)	A2053T	probably benign	Het
Myrip	A	G	9: 120,246,252 (GRCm39)	S127G	probably benign	Het
Naaladl2	T	A	3: 24,262,528 (GRCm39)	K395I	probably benign	Het
Nedd4l	A	T	18: 65,336,986 (GRCm39)	M678L	probably benign	Het
Nefh	A	T	11: 4,891,233 (GRCm39)	I462N	probably damaging	Het
Nfe2	A	G	15: 103,157,025 (GRCm39)	M322T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,562 (GRCm39)	D71V	probably damaging	Het
Or56b1	T	A	7: 104,285,103 (GRCm39)	V74E	possibly damaging	Het
Pkdcc	A	G	17: 83,528,495 (GRCm39)	N288S	probably benign	Het
Sacs	G	A	14: 61,444,725 (GRCm39)	C2257Y	probably damaging	Het
Sec23a	G	T	12: 59,052,056 (GRCm39)	Q90K	probably damaging	Het
Shisal2a	T	A	4: 108,225,085 (GRCm39)	N159I	probably benign	Het
Slc30a6	A	G	17: 74,712,685 (GRCm39)	T61A	possibly damaging	Het
Slc39a11	C	A	11: 113,141,385 (GRCm39)	A234S	probably damaging	Het
Smg6	C	A	11: 75,047,064 (GRCm39)	N1252K	probably damaging	Het
Spata2	A	T	2: 167,326,227 (GRCm39)	D197E	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spocd1	T	C	4: 129,842,761 (GRCm39)	F59L	probably damaging	Het
Tectb	T	A	19: 55,181,105 (GRCm39)		probably benign	Het
Tnnc1	G	A	14: 30,932,562 (GRCm39)	V82I	probably damaging	Het
Traf7	A	T	17: 24,729,015 (GRCm39)	V513D	probably damaging	Het
Tut4	T	A	4: 108,399,908 (GRCm39)		probably null	Het
Vmn2r111	A	T	17: 22,790,910 (GRCm39)	Y129*	probably null	Het
Vrtn	T	A	12: 84,696,690 (GRCm39)	F480Y	probably benign	Het
Vwa8	A	T	14: 79,246,649 (GRCm39)	I664F	probably damaging	Het
Vwde	A	T	6: 13,193,136 (GRCm39)	V401E	probably damaging	Het
Zfp655	A	T	5: 145,180,835 (GRCm39)	N231I	probably benign	Het

Other mutations in 0610040J01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:0610040J01Rik	APN	5	64,055,726 (GRCm39)	missense	possibly damaging	0.79
IGL02229:0610040J01Rik	APN	5	64,055,696 (GRCm39)	missense	probably damaging	0.99
IGL02389:0610040J01Rik	APN	5	64,053,826 (GRCm39)	missense	probably null	1.00
IGL02411:0610040J01Rik	APN	5	64,055,459 (GRCm39)	missense	probably benign	0.31
R0243:0610040J01Rik	UTSW	5	64,055,806 (GRCm39)	missense	probably benign	0.10
R0411:0610040J01Rik	UTSW	5	64,053,834 (GRCm39)	splice site	probably benign
R1978:0610040J01Rik	UTSW	5	64,055,880 (GRCm39)	nonsense	probably null
R2072:0610040J01Rik	UTSW	5	64,056,080 (GRCm39)	missense	possibly damaging	0.83
R2202:0610040J01Rik	UTSW	5	64,056,011 (GRCm39)	missense	possibly damaging	0.91
R3161:0610040J01Rik	UTSW	5	64,053,833 (GRCm39)	splice site	probably benign
R3162:0610040J01Rik	UTSW	5	64,053,833 (GRCm39)	splice site	probably benign
R4428:0610040J01Rik	UTSW	5	64,056,182 (GRCm39)	unclassified	probably benign
R4429:0610040J01Rik	UTSW	5	64,056,182 (GRCm39)	unclassified	probably benign
R4430:0610040J01Rik	UTSW	5	64,056,182 (GRCm39)	unclassified	probably benign
R4431:0610040J01Rik	UTSW	5	64,056,182 (GRCm39)	unclassified	probably benign
R4464:0610040J01Rik	UTSW	5	64,056,182 (GRCm39)	unclassified	probably benign
R4465:0610040J01Rik	UTSW	5	64,056,182 (GRCm39)	unclassified	probably benign
R4467:0610040J01Rik	UTSW	5	64,056,182 (GRCm39)	unclassified	probably benign
R4491:0610040J01Rik	UTSW	5	64,055,812 (GRCm39)	missense	probably damaging	1.00
R5161:0610040J01Rik	UTSW	5	64,055,344 (GRCm39)	nonsense	probably null
R6115:0610040J01Rik	UTSW	5	64,055,317 (GRCm39)	missense	probably damaging	1.00
R6273:0610040J01Rik	UTSW	5	64,055,561 (GRCm39)	missense	probably damaging	1.00
R7445:0610040J01Rik	UTSW	5	64,055,962 (GRCm39)	missense	probably damaging	0.99
R7593:0610040J01Rik	UTSW	5	64,055,774 (GRCm39)	missense	probably damaging	0.97
R8070:0610040J01Rik	UTSW	5	64,055,510 (GRCm39)	missense	probably benign	0.01
R8140:0610040J01Rik	UTSW	5	64,055,954 (GRCm39)	missense	possibly damaging	0.83
R8165:0610040J01Rik	UTSW	5	64,055,289 (GRCm39)	splice site	probably null
R9671:0610040J01Rik	UTSW	5	64,055,948 (GRCm39)	nonsense	probably null
R9782:0610040J01Rik	UTSW	5	64,053,796 (GRCm39)	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGTGGCAGATCACATC -3'
(R):5'- TGCATCTTCTCCTGCGGTAG -3'

Sequencing Primer
(F):5'- GTGGCAGATCACATCCCATAC -3'
(R):5'- GCAGCTTCTAATGCTGCGAG -3'

Posted On

2021-01-18