Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:0610040J01Rik'

632472

Institutional Source

Beutler Lab

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

MMRRC Submission

067568-MU

Accession Numbers

Essential gene?

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

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63969833-64056968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64055954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 230 (V230E)

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

possibly damaging
Transcript: ENSMUST00000081747
AA Change: V230E

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: V230E

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

0.1712

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	G	A	9: 14,484,011 (GRCm39)		probably null	Het
Atp7b	C	A	8: 22,518,576 (GRCm39)	E87D	probably damaging	Het
Bcat2	C	T	7: 45,237,775 (GRCm39)	P347L	probably damaging	Het
Brox	A	T	1: 183,075,437 (GRCm39)		probably null	Het
Cd37	A	G	7: 44,887,959 (GRCm39)	I58T	probably damaging	Het
Cep295	A	T	9: 15,252,829 (GRCm39)	M333K	probably benign	Het
Chtop	A	G	3: 90,412,700 (GRCm39)		probably null	Het
Cpa2	A	T	6: 30,544,904 (GRCm39)	K54N	probably benign	Het
Cpa6	A	G	1: 10,395,519 (GRCm39)	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,540,748 (GRCm39)	I2542N	probably benign	Het
Eif5b	G	A	1: 38,090,357 (GRCm39)	V1179I	probably benign	Het
Erbin	T	C	13: 104,056,802 (GRCm39)		probably null	Het
Fastkd5	A	T	2: 130,457,170 (GRCm39)	D473E	possibly damaging	Het
Fchsd1	T	C	18: 38,097,395 (GRCm39)	E372G	probably damaging	Het
Fgl1	T	C	8: 41,653,646 (GRCm39)		probably null	Het
Fzd8	T	G	18: 9,213,797 (GRCm39)	V293G	probably damaging	Het
Gm4787	T	A	12: 81,424,925 (GRCm39)	H411L	probably benign	Het
Gm49380	G	T	9: 44,023,269 (GRCm39)	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,029,083 (GRCm39)	R240C	probably damaging	Het
Hdac5	A	T	11: 102,088,181 (GRCm39)	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,295,167 (GRCm39)	S301G	probably benign	Het
Htra4	A	T	8: 25,520,574 (GRCm39)	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,547,361 (GRCm39)	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,867,390 (GRCm39)	I751T	probably damaging	Het
Magi3	T	C	3: 103,941,402 (GRCm39)	Y851C	probably damaging	Het
Mefv	A	G	16: 3,531,499 (GRCm39)	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,843,091 (GRCm39)	V397I	probably benign	Het
Mroh1	C	A	15: 76,318,073 (GRCm39)	H867N	probably benign	Het
Mthfd1l	C	T	10: 3,957,745 (GRCm39)	R261*	probably null	Het
Myo3a	A	G	2: 22,412,157 (GRCm39)	I725M	probably damaging	Het
Neb	T	C	2: 52,099,552 (GRCm39)	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,270,156 (GRCm39)	P22Q	probably damaging	Het
Or4p18	T	C	2: 88,232,457 (GRCm39)	T274A	possibly damaging	Het
Or5k15	T	C	16: 58,709,948 (GRCm39)	T212A	probably benign	Het
Or9q2	A	T	19: 13,772,603 (GRCm39)	V124E	possibly damaging	Het
Peg10	C	G	6: 4,756,113 (GRCm39)	Q230E	unknown	Het
Pipox	T	C	11: 77,774,735 (GRCm39)	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,774,236 (GRCm39)	R993H	probably benign	Het
Pkdrej	A	C	15: 85,702,611 (GRCm39)	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,637,202 (GRCm39)	R291Q	probably benign	Het
Pomt1	T	A	2: 32,134,309 (GRCm39)	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,126,805 (GRCm39)	S78P	probably damaging	Het
Rgl1	A	T	1: 152,433,252 (GRCm39)	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,912,666 (GRCm39)	E14G	unknown	Het
Sh3rf3	T	A	10: 58,885,177 (GRCm39)	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,541,233 (GRCm39)	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,621,762 (GRCm39)	D274E	probably damaging	Het
Syne2	T	A	12: 75,959,127 (GRCm39)	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,544,383 (GRCm39)	D2170A	probably damaging	Het
Tnr	A	G	1: 159,691,265 (GRCm39)	T472A	probably damaging	Het
Tspan9	T	C	6: 127,942,241 (GRCm39)	H203R	probably damaging	Het
Ttn	T	C	2: 76,601,995 (GRCm39)	T18556A	possibly damaging	Het
Usp25	T	A	16: 76,868,569 (GRCm39)	Y323*	probably null	Het
Usp31	G	T	7: 121,248,249 (GRCm39)	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,058 (GRCm39)	T611S	probably damaging	Het
Wdfy4	A	G	14: 32,864,317 (GRCm39)	V552A		Het
Zap70	G	T	1: 36,810,262 (GRCm39)	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,281,957 (GRCm39)	S91T	possibly damaging	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
R8165:0610040J01Rik	UTSW	5	64,055,289 (GRCm39)	splice site	probably null
R8557:0610040J01Rik	UTSW	5	64,055,954 (GRCm39)	missense	probably benign	0.04
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'- GTAGGCACATGCTTCTATCTGC -3'

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

Posted On

2020-06-30