Mutagenetix > Incidental Mutation

Incidental Mutation 'R4065:B430305J03Rik'

316046

Institutional Source

Beutler Lab

Gene Symbol

B430305J03Rik

Ensembl Gene

ENSMUSG00000053706

Gene Name

RIKEN cDNA B430305J03 gene

Synonyms

MMRRC Submission

040972-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R4065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61269671-61273372 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 61271646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038841 (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

unknown
Transcript: ENSMUST00000066298
AA Change: L33P

SMART Domains

Protein: ENSMUSP00000070175
Gene: ENSMUSG00000053706
AA Change: L33P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194223

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	T	3: 89,966,073 (GRCm39)	R178*	probably null	Het
Abcc9	T	C	6: 142,591,616 (GRCm39)	E769G	probably damaging	Het
Adcy9	C	A	16: 4,106,298 (GRCm39)	V939F	probably damaging	Het
Atg2a	T	C	19: 6,308,396 (GRCm39)	F1643S	probably damaging	Het
C2cd5	A	G	6: 143,019,397 (GRCm39)	I306T	probably benign	Het
Camk1d	A	T	2: 5,570,584 (GRCm39)	F26I	probably damaging	Het
Cant1	G	T	11: 118,298,823 (GRCm39)	D313E	probably benign	Het
Dhx29	T	A	13: 113,101,276 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,492,405 (GRCm39)	I1182V	probably benign	Het
Dnajc21	A	G	15: 10,451,639 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Fat4	A	T	3: 39,063,346 (GRCm39)	H4434L	probably benign	Het
Fbxo16	T	A	14: 65,508,278 (GRCm39)	N31K	probably damaging	Het
Foxj3	T	C	4: 119,467,206 (GRCm39)	I183T	probably benign	Het
Fras1	T	A	5: 96,918,542 (GRCm39)	I3526K	possibly damaging	Het
Fshr	T	C	17: 89,293,394 (GRCm39)	Y428C	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm12258	C	T	11: 58,749,352 (GRCm39)	L176F	probably benign	Het
Grem1	A	G	2: 113,580,033 (GRCm39)	L156P	probably damaging	Het
Hecw1	T	C	13: 14,491,016 (GRCm39)	S659G	probably damaging	Het
Lamc3	C	A	2: 31,835,270 (GRCm39)	H1530Q	probably benign	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mga	T	C	2: 119,777,483 (GRCm39)	V1846A	probably damaging	Het
Mthfd1l	A	G	10: 3,982,242 (GRCm39)	H483R	probably damaging	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Mvp	A	G	7: 126,595,489 (GRCm39)	V207A	probably damaging	Het
Nsun2	T	C	13: 69,760,579 (GRCm39)		probably null	Het
Or13a26	T	C	7: 140,284,182 (GRCm39)	L6P	probably benign	Het
Or8g55	T	C	9: 39,784,718 (GRCm39)	I49T	possibly damaging	Het
Pcnx4	T	C	12: 72,603,134 (GRCm39)		probably null	Het
Plxna4	T	A	6: 32,213,300 (GRCm39)	K637*	probably null	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Prb1a	T	A	6: 132,184,658 (GRCm39)	Q325L	unknown	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Spcs2	A	G	7: 99,494,012 (GRCm39)	I164T	possibly damaging	Het
Ssbp4	T	C	8: 71,052,210 (GRCm39)	T77A	possibly damaging	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uhrf1	T	A	17: 56,625,020 (GRCm39)	I521N	probably damaging	Het
Uros	A	G	7: 133,304,057 (GRCm39)		probably null	Het
Usp47	A	G	7: 111,652,623 (GRCm39)	D100G	probably benign	Het
Utp6	T	C	11: 79,837,073 (GRCm39)	R337G	probably damaging	Het
Vcan	T	C	13: 89,828,006 (GRCm39)	T3147A	probably damaging	Het
Wdfy3	C	T	5: 102,070,313 (GRCm39)	V1152I	probably benign	Het
Zfp654	G	A	16: 64,606,288 (GRCm39)	T638M	possibly 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
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
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'- CTCGATCCACAAGCCATATTTTG -3'
(R):5'- CTTGGAACTGGGCAGTCTTG -3'

Sequencing Primer
(F):5'- TAGGATGACCCCGCAACTCTTG -3'
(R):5'- CAGTCTTGCTTGTGTGTGC -3'

Posted On

2015-05-15