Mutagenetix > Incidental Mutation

Incidental Mutation 'R0704:B430305J03Rik'

63076

Institutional Source

Beutler Lab

Gene Symbol

B430305J03Rik

Ensembl Gene

ENSMUSG00000053706

Gene Name

RIKEN cDNA B430305J03 gene

Synonyms

MMRRC Submission

038887-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R0704 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

61269671-61273372 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 61271414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 110 (Y110*)

Ref Sequence

ENSEMBL: ENSMUSP00000070175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049064] [ENSMUST00000066298]

AlphaFold

Q8BQQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000049064

SMART Domains

Protein: ENSMUSP00000038841
Gene: ENSMUSG00000036894

Domain	Start	End	E-Value	Type
RAS	1	167	3.08e-111	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000066298
AA Change: Y110*

SMART Domains

Protein: ENSMUSP00000070175
Gene: ENSMUSG00000053706
AA Change: Y110*

Domain	Start	End	E-Value	Type
low complexity region	95	103	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194223

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,643,381 (GRCm39)	L441Q	probably damaging	Het
Abca15	A	T	7: 119,953,746 (GRCm39)	E550V	probably damaging	Het
Adcy4	A	G	14: 56,010,213 (GRCm39)	F690L	probably benign	Het
Aspg	T	A	12: 112,080,906 (GRCm39)	N132K	probably damaging	Het
Cep135	A	G	5: 76,778,796 (GRCm39)	E741G	possibly damaging	Het
Cplane1	T	C	15: 8,239,567 (GRCm39)	V1256A	possibly damaging	Het
Dkkl1	T	C	7: 44,859,539 (GRCm39)	K128E	probably damaging	Het
Duox2	A	T	2: 122,115,249 (GRCm39)	M1101K	probably benign	Het
Gpr89	T	C	3: 96,787,484 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,473,997 (GRCm39)		probably null	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Itga2	A	G	13: 114,998,911 (GRCm39)	F658S	possibly damaging	Het
Kcnc4	T	C	3: 107,355,279 (GRCm39)	I390V	possibly damaging	Het
Krt84	G	T	15: 101,441,112 (GRCm39)	H27N	probably benign	Het
Lama5	A	G	2: 179,821,277 (GRCm39)	I3095T	possibly damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Ms4a1	T	C	19: 11,230,596 (GRCm39)	T202A	probably benign	Het
Nrbp2	A	G	15: 75,960,801 (GRCm39)	S294P	probably damaging	Het
Or6b13	A	G	7: 139,782,548 (GRCm39)	V45A	probably benign	Het
Or6c215	A	G	10: 129,638,172 (GRCm39)	V74A	probably benign	Het
Pde4b	C	T	4: 102,344,589 (GRCm39)	L155F	probably damaging	Het
Pds5a	A	G	5: 65,777,928 (GRCm39)	S6P	probably damaging	Het
Ralgapa2	A	T	2: 146,293,704 (GRCm39)	L150Q	probably damaging	Het
Reln	C	T	5: 22,101,809 (GRCm39)	V3374I	probably damaging	Het
Rgs12	T	G	5: 35,180,466 (GRCm39)	S253A	possibly damaging	Het
Sap130	C	A	18: 31,786,607 (GRCm39)	T266K	probably damaging	Het
Sis	T	C	3: 72,857,155 (GRCm39)	I379V	possibly damaging	Het
Slc39a10	T	A	1: 46,875,021 (GRCm39)	I94F	possibly damaging	Het
Sptb	A	T	12: 76,630,368 (GRCm39)	N2263K	probably damaging	Het
Srsf12	A	G	4: 33,231,069 (GRCm39)	R188G	probably damaging	Het
Ssxb9	T	G	X: 8,238,022 (GRCm39)	S130R	probably damaging	Het
Tg	A	G	15: 66,629,729 (GRCm39)	D470G	probably benign	Het
Urb1	T	C	16: 90,573,095 (GRCm39)	Q979R	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Zfp78	T	A	7: 6,382,251 (GRCm39)	C402S	probably damaging	Het

Other mutations in B430305J03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02451:B430305J03Rik	APN	3	61,271,562 (GRCm39)	utr 5 prime	probably benign
R0400:B430305J03Rik	UTSW	3	61,271,556 (GRCm39)	utr 5 prime	probably benign
R1133:B430305J03Rik	UTSW	3	61,271,430 (GRCm39)	nonsense	probably null
R1727:B430305J03Rik	UTSW	3	61,271,299 (GRCm39)	utr 5 prime	probably benign
R1735:B430305J03Rik	UTSW	3	61,271,361 (GRCm39)	utr 5 prime	probably benign
R4065:B430305J03Rik	UTSW	3	61,271,646 (GRCm39)	utr 5 prime	probably benign
R4978:B430305J03Rik	UTSW	3	61,271,440 (GRCm39)	start gained	probably benign
R7073:B430305J03Rik	UTSW	3	61,271,681 (GRCm39)	missense	unknown
R7242:B430305J03Rik	UTSW	3	61,271,256 (GRCm39)	missense	unknown
R7345:B430305J03Rik	UTSW	3	61,271,539 (GRCm39)	missense	unknown
R9624:B430305J03Rik	UTSW	3	61,271,408 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATAACCAATCCTGAGCGGAGGCG -3'
(R):5'- CTCAGTTTCCCACGAAGAACTCGAC -3'

Sequencing Primer
(F):5'- TTGCAGCCAATGAAGCTGTC -3'
(R):5'- AGAACTCGACCTGAGTCCCTG -3'

Posted On

2013-07-30