Mutagenetix > Incidental Mutation

Incidental Mutation 'R2341:4933412E24Rik'

246765

Institutional Source

Beutler Lab

Gene Symbol

4933412E24Rik

Ensembl Gene

ENSMUSG00000071749

Gene Name

RIKEN cDNA 4933412E24 gene

Synonyms

MMRRC Submission

040327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59886715-59888462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59888212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 76 (V76A)

Ref Sequence

ENSEMBL: ENSMUSP00000094154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096421]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096421
AA Change: V76A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094154
Gene: ENSMUSG00000071749
AA Change: V76A

Domain	Start	End	E-Value	Type
Pfam:DUF4641	79	509	5.4e-189	PFAM

Meta Mutation Damage Score

0.0864

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anapc4	T	C	5: 52,999,279 (GRCm39)		probably benign	Het
Anxa4	A	G	6: 86,720,135 (GRCm39)	S144P	probably benign	Het
Bcr	A	G	10: 74,966,944 (GRCm39)	E517G	probably damaging	Het
Ccdc57	T	C	11: 120,751,349 (GRCm39)	E907G	probably benign	Het
Chd6	TG	T	2: 160,807,679 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,750,782 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,177,757 (GRCm39)	K2031E	probably damaging	Het
Gm5444	T	C	13: 4,884,344 (GRCm39)		noncoding transcript	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Ifna16	A	G	4: 88,594,565 (GRCm39)	S177P	probably damaging	Het
Ino80d	T	C	1: 63,104,985 (GRCm39)	N364D	possibly damaging	Het
Ltbp2	T	C	12: 84,855,937 (GRCm39)	T769A	probably benign	Het
Ms4a20	T	A	19: 11,083,157 (GRCm39)	M88L	probably benign	Het
Mug1	T	C	6: 121,861,588 (GRCm39)	V1350A	probably benign	Het
Nedd9	A	G	13: 41,469,987 (GRCm39)	S389P	probably damaging	Het
Or10ag57	A	T	2: 87,218,084 (GRCm39)	I12F	probably benign	Het
Or4c11b	A	G	2: 88,624,989 (GRCm39)	N88D	probably benign	Het
Or8h8	T	C	2: 86,752,982 (GRCm39)	K298R	possibly damaging	Het
Pole	A	T	5: 110,478,829 (GRCm39)	I28F	possibly damaging	Het
Prkce	C	A	17: 86,781,870 (GRCm39)	P180T	probably damaging	Het
Ralgapa1	T	C	12: 55,723,909 (GRCm39)	H1995R	possibly damaging	Het
Rnf144b	A	G	13: 47,373,976 (GRCm39)	K58E	probably benign	Het
Rnf43	A	G	11: 87,622,851 (GRCm39)	R651G	probably damaging	Het
Scel	A	T	14: 103,845,606 (GRCm39)	L580F	possibly damaging	Het
Scn4b	G	A	9: 45,059,127 (GRCm39)	V133M	probably damaging	Het
Sipa1l3	T	C	7: 29,077,060 (GRCm39)	N904S	probably damaging	Het
Sun5	A	G	2: 153,709,422 (GRCm39)		probably benign	Het
Tanc2	T	C	11: 105,725,877 (GRCm39)	V347A	probably benign	Het
Tmem245	T	C	4: 56,937,957 (GRCm39)	Y197C	probably damaging	Het
Usp30	C	T	5: 114,249,241 (GRCm39)	R182*	probably null	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vps35	T	C	8: 86,001,443 (GRCm39)		probably benign	Het
Xkr7	G	A	2: 152,896,318 (GRCm39)	V391M	possibly damaging	Het
Ythdf3	A	T	3: 16,257,379 (GRCm39)		probably benign	Het
Zfp110	T	C	7: 12,583,113 (GRCm39)	V587A	probably benign	Het

Other mutations in 4933412E24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:4933412E24Rik	APN	15	59,887,424 (GRCm39)	missense	possibly damaging	0.82
IGL02078:4933412E24Rik	APN	15	59,888,179 (GRCm39)	missense	probably benign	0.02
IGL02493:4933412E24Rik	APN	15	59,888,312 (GRCm39)	missense	probably benign	0.00
IGL03336:4933412E24Rik	APN	15	59,888,251 (GRCm39)	missense	probably benign	0.00
R0466:4933412E24Rik	UTSW	15	59,887,321 (GRCm39)	missense	probably benign	0.00
R0961:4933412E24Rik	UTSW	15	59,887,160 (GRCm39)	missense	probably benign	0.36
R1765:4933412E24Rik	UTSW	15	59,887,194 (GRCm39)	nonsense	probably null
R2440:4933412E24Rik	UTSW	15	59,888,129 (GRCm39)	missense	probably benign
R3162:4933412E24Rik	UTSW	15	59,888,134 (GRCm39)	missense	probably damaging	1.00
R3162:4933412E24Rik	UTSW	15	59,888,134 (GRCm39)	missense	probably damaging	1.00
R4039:4933412E24Rik	UTSW	15	59,888,215 (GRCm39)	missense	possibly damaging	0.95
R4416:4933412E24Rik	UTSW	15	59,888,272 (GRCm39)	missense	possibly damaging	0.88
R4868:4933412E24Rik	UTSW	15	59,887,817 (GRCm39)	missense	possibly damaging	0.50
R4907:4933412E24Rik	UTSW	15	59,887,957 (GRCm39)	missense	probably benign	0.00
R5462:4933412E24Rik	UTSW	15	59,886,917 (GRCm39)	missense	probably benign	0.09
R7275:4933412E24Rik	UTSW	15	59,887,738 (GRCm39)	missense	probably benign	0.32
R7842:4933412E24Rik	UTSW	15	59,888,422 (GRCm39)	missense	probably damaging	1.00
R8261:4933412E24Rik	UTSW	15	59,888,425 (GRCm39)	missense	probably benign	0.44
R8297:4933412E24Rik	UTSW	15	59,887,524 (GRCm39)	missense	probably damaging	1.00
R8378:4933412E24Rik	UTSW	15	59,886,967 (GRCm39)	missense	probably damaging	0.99
R8808:4933412E24Rik	UTSW	15	59,887,919 (GRCm39)	missense	probably benign	0.00
X0052:4933412E24Rik	UTSW	15	59,888,375 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTTGCCTCCTCGGAAGCTTG -3'
(R):5'- TTTTATGAGGAGAGTGGAGACCTC -3'

Sequencing Primer
(F):5'- TGATGGAGCCTGCCTCTGTC -3'
(R):5'- AGACCTCAACACGGGCTTGAG -3'

Posted On

2014-10-30