Mutagenetix > Incidental Mutation

Incidental Mutation 'R9768:4930524B15Rik'

733374

Institutional Source

Beutler Lab

Gene Symbol

4930524B15Rik

Ensembl Gene

ENSMUSG00000020299

Gene Name

RIKEN cDNA 4930524B15 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9768 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

31915592-31929651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31915770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 37 (F37L)

Ref Sequence

ENSEMBL: ENSMUSP00000099893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102829]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102829
AA Change: F37L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099893
Gene: ENSMUSG00000020299
AA Change: F37L

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,292,636 (GRCm39)	E1091G	probably benign	Het
Asxl3	A	G	18: 22,650,101 (GRCm39)	T697A	probably benign	Het
Cdk5r1	A	G	11: 80,368,414 (GRCm39)	Y27C	probably damaging	Het
Cdkl2	T	A	5: 92,165,244 (GRCm39)	I511L	probably benign	Het
Clp1	A	C	2: 84,556,477 (GRCm39)	M1R	probably null	Het
Csrnp1	A	C	9: 119,801,819 (GRCm39)	D413E	probably damaging	Het
Gbp2	T	C	3: 142,341,055 (GRCm39)	S479P	probably benign	Het
Il23r	A	G	6: 67,408,603 (GRCm39)	S413P	probably damaging	Het
Klb	G	T	5: 65,537,373 (GRCm39)	R901L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lta4h	G	A	10: 93,308,818 (GRCm39)	V373I	probably benign	Het
Map3k1	G	T	13: 111,904,630 (GRCm39)	Q385K	probably benign	Het
Mapk8ip2	A	T	15: 89,343,160 (GRCm39)	D634V	probably damaging	Het
Myocd	T	C	11: 65,078,217 (GRCm39)	E526G	probably damaging	Het
Nipal4	C	T	11: 46,041,473 (GRCm39)	V241M	probably damaging	Het
Nup188	T	A	2: 30,227,045 (GRCm39)	V1206E	probably damaging	Het
Pak6	A	G	2: 118,520,396 (GRCm39)	Y129C	probably damaging	Het
Pigp	T	A	16: 94,166,332 (GRCm39)	K125N	probably damaging	Het
Pmm1	G	A	15: 81,840,460 (GRCm39)	T95M	possibly damaging	Het
Prrt3	A	T	6: 113,474,032 (GRCm39)	N335K	probably damaging	Het
Rsrc2	T	C	5: 123,868,561 (GRCm39)	N361S	probably benign	Het
Slc45a1	T	C	4: 150,722,982 (GRCm39)	T301A	probably benign	Het
Spata19	A	C	9: 27,311,744 (GRCm39)	D121A	probably damaging	Het
Speg	T	A	1: 75,395,617 (GRCm39)	L1796*	probably null	Het
Stx2	A	G	5: 129,063,422 (GRCm39)	S288P	unknown	Het
Tlk1	C	T	2: 70,600,400 (GRCm39)	S93N	probably damaging	Het
Tmc8	A	G	11: 117,676,029 (GRCm39)	D256G	probably damaging	Het
Vldlr	T	C	19: 27,218,720 (GRCm39)	Y524H	possibly damaging	Het
Vmn1r168	T	C	7: 23,240,509 (GRCm39)	F122S	probably benign	Het
Vmn2r67	T	C	7: 84,802,037 (GRCm39)	N88S	probably benign	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het

Predicted Primers

PCR Primer
(F):5'- TCTTCAGTGAAGTTGGGGCC -3'
(R):5'- ACTGGCAGATGCAAAGGTTG -3'

Sequencing Primer
(F):5'- TCGCCTCACACAGGTCTG -3'
(R):5'- TGACAGGACGATCCCTCC -3'

Posted On

2022-11-14