Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:4933412E24Rik'

326853

Institutional Source

Beutler Lab

Gene Symbol

4933412E24Rik

Ensembl Gene

ENSMUSG00000071749

Gene Name

RIKEN cDNA 4933412E24 gene

Synonyms

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60014866-60016613 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60016423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 56 (E56V)

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: E56V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094154
Gene: ENSMUSG00000071749
AA Change: E56V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	probably benign	Het

Other mutations in 4933412E24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:4933412E24Rik	APN	15	60015575	missense	possibly damaging	0.82
IGL02078:4933412E24Rik	APN	15	60016330	missense	probably benign	0.02
IGL02493:4933412E24Rik	APN	15	60016463	missense	probably benign	0.00
IGL03336:4933412E24Rik	APN	15	60016402	missense	probably benign	0.00
R0466:4933412E24Rik	UTSW	15	60015472	missense	probably benign	0.00
R0961:4933412E24Rik	UTSW	15	60015311	missense	probably benign	0.36
R1765:4933412E24Rik	UTSW	15	60015345	nonsense	probably null
R2341:4933412E24Rik	UTSW	15	60016363	missense	possibly damaging	0.85
R2440:4933412E24Rik	UTSW	15	60016280	missense	probably benign
R3162:4933412E24Rik	UTSW	15	60016285	missense	probably damaging	1.00
R3162:4933412E24Rik	UTSW	15	60016285	missense	probably damaging	1.00
R4039:4933412E24Rik	UTSW	15	60016366	missense	possibly damaging	0.95
R4868:4933412E24Rik	UTSW	15	60015968	missense	possibly damaging	0.50
R4907:4933412E24Rik	UTSW	15	60016108	missense	probably benign	0.00
R5462:4933412E24Rik	UTSW	15	60015068	missense	probably benign	0.09
R7275:4933412E24Rik	UTSW	15	60015889	missense	probably benign	0.32
R7842:4933412E24Rik	UTSW	15	60016573	missense	probably damaging	1.00
R8261:4933412E24Rik	UTSW	15	60016576	missense	probably benign	0.44
R8297:4933412E24Rik	UTSW	15	60015675	missense	probably damaging	1.00
R8378:4933412E24Rik	UTSW	15	60015118	missense	probably damaging	0.99
R8808:4933412E24Rik	UTSW	15	60016070	missense	probably benign	0.00
X0052:4933412E24Rik	UTSW	15	60016526	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCTCTGTCTCAGCACAAACG -3'
(R):5'- CAACATGGGCTCTTCTGAGG -3'

Sequencing Primer
(F):5'- ACAAACGCTCTCTGGGGATG -3'
(R):5'- GCTCTTCTGAGGAGCAGTC -3'

Posted On

2015-07-07