Mutagenetix > Incidental Mutations

Incidental Mutation 'R5737:4833439L19Rik'

444591

Institutional Source

Beutler Lab

Gene Symbol

4833439L19Rik

Ensembl Gene

ENSMUSG00000025871

Gene Name

RIKEN cDNA 4833439L19 gene

Synonyms

MMRRC Submission

043195-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R5737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54551218-54565435 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54559242 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 78 (V78A)

Ref Sequence

ENSEMBL: ENSMUSP00000119874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000126295] [ENSMUST00000132136] [ENSMUST00000143144] [ENSMUST00000153065]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026989
AA Change: V97A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871
AA Change: V97A

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	15	303	5.8e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126295

Predicted Effect

probably benign
Transcript: ENSMUST00000132136

SMART Domains

Protein: ENSMUSP00000121083
Gene: ENSMUSG00000025871

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	14	69	4.3e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143144
AA Change: V97A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120615
Gene: ENSMUSG00000025871
AA Change: V97A

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	14	133	9.7e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150938

Predicted Effect

probably damaging
Transcript: ENSMUST00000153065
AA Change: V78A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871
AA Change: V78A

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	1	284	7e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153708

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	G	T	5: 90,572,783	C271F	probably damaging	Het
Aldh1l2	T	A	10: 83,520,325	D67V	probably damaging	Het
Ankfy1	T	A	11: 72,732,274	D253E	probably damaging	Het
Arhgap42	T	C	9: 9,059,068	K159R	probably damaging	Het
Atrnl1	C	T	19: 57,777,888	A1219V	possibly damaging	Het
Cacna1c	C	T	6: 118,741,932	V386I	probably damaging	Het
Cacna2d2	A	G	9: 107,526,747	T1015A	possibly damaging	Het
Cadps2	T	C	6: 23,328,805	M999V	probably benign	Het
Ccer1	A	T	10: 97,694,684	H403L	possibly damaging	Het
Cubn	A	T	2: 13,388,891	I1433N	probably damaging	Het
Dcbld2	T	C	16: 58,460,985	V531A	probably damaging	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Dnah3	T	C	7: 120,059,198	K920R	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dscaml1	C	T	9: 45,745,185	R1608C	probably damaging	Het
Gtf3c2	A	G	5: 31,168,249		probably null	Het
Heca	A	T	10: 17,915,714	M198K	possibly damaging	Het
Igkv8-24	A	T	6: 70,217,138	S29T	probably benign	Het
Lipo2	A	C	19: 33,721,696	N311K	probably damaging	Het
Lmo7	T	G	14: 101,887,236	I266S	probably damaging	Het
Naip2	T	A	13: 100,161,854	E558V	probably benign	Het
Nelfa	T	A	5: 33,899,113		probably null	Het
Phka2	ACC	AC	X: 160,559,866		probably null	Het
Psmg2	T	C	18: 67,646,037	S92P	possibly damaging	Het
Rasa2	C	T	9: 96,570,665		probably null	Het
Slc6a3	A	C	13: 73,544,804	N181T	probably damaging	Het
Smim4	A	G	14: 31,128,719	I22T	probably benign	Het
Tdrd5	A	G	1: 156,300,724	M136T	probably benign	Het
Tmem178b	A	C	6: 40,245,641	M97L	possibly damaging	Het
Tnfaip8l1	A	G	17: 56,171,950	D80G	probably benign	Het
Tomt	T	C	7: 101,900,317	T255A	probably benign	Het
Vmn2r26	G	T	6: 124,039,449	V291F	probably benign	Het

Other mutations in 4833439L19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:4833439L19Rik	APN	13	54556525	critical splice donor site	probably null
IGL02819:4833439L19Rik	APN	13	54564220	intron	probably benign
IGL02935:4833439L19Rik	APN	13	54561862	missense	possibly damaging	0.90
R0508:4833439L19Rik	UTSW	13	54553050	splice site	probably null
R3900:4833439L19Rik	UTSW	13	54552968	missense	probably damaging	0.99
R5091:4833439L19Rik	UTSW	13	54553244	missense	probably damaging	1.00
R7283:4833439L19Rik	UTSW	13	54552691	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TTAGGAATACACCTAAGCCAATGAG -3'
(R):5'- GTTGCACACTCTCGTAACGTTC -3'

Sequencing Primer
(F):5'- GTCAATGAGATCCTTCATAGTCAAC -3'
(R):5'- TCGTAACGTTCTCCACAGACGTAAG -3'

Posted On

2016-11-21