Mutagenetix > Incidental Mutation

Incidental Mutation 'R1133:B430305J03Rik'

94517

Institutional Source

Beutler Lab

Gene Symbol

B430305J03Rik

Ensembl Gene

ENSMUSG00000053706

Gene Name

RIKEN cDNA B430305J03 gene

Synonyms

MMRRC Submission

039206-MU

Accession Numbers

Essential gene?

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

Stock #

R1133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61269671-61273372 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 61271430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 105 (W105*)

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: W105*

SMART Domains

Protein: ENSMUSP00000070175
Gene: ENSMUSG00000053706
AA Change: W105*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194223

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahr	A	G	12: 35,576,805 (GRCm39)	L42P	probably damaging	Het
Gpr156	T	A	16: 37,825,683 (GRCm39)	N633K	probably benign	Het
Hook2	T	C	8: 85,722,433 (GRCm39)	L324P	probably damaging	Het
Ift70a2	G	A	2: 75,807,727 (GRCm39)	Q262*	probably null	Het
Or8b3	A	T	9: 38,315,027 (GRCm39)	M283L	probably benign	Het
Socs4	A	G	14: 47,527,651 (GRCm39)	I195M	probably benign	Het
Syne1	A	G	10: 5,299,044 (GRCm39)	I1014T	possibly damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	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
R0704:B430305J03Rik	UTSW	3	61,271,414 (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'- GCGACTTTGCAGCCAATGAAGC -3'
(R):5'- AGGATAGACACTTGTCCCCGAACTC -3'

Sequencing Primer
(F):5'- CCAATGAAGCTGTCTAAAGCG -3'
(R):5'- GCCTCTCAGGATCGTACAC -3'

Posted On

2014-01-05