Mutagenetix > Incidental Mutations

Incidental Mutation 'R0560:0610009O20Rik'

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45847

Institutional Source

Beutler Lab

Gene Symbol

0610009O20Rik

Ensembl Gene

ENSMUSG00000024442

Gene Name

RIKEN cDNA 0610009O20 gene

Synonyms

MMRRC Submission

038752-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R0560 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38250249-38262629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38254498 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 230 (L230Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025314]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025314
AA Change: L230Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: L230Q

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
low complexity region	35	46	N/A	INTRINSIC
low complexity region	127	140	N/A	INTRINSIC
SEL1	244	277	1.53e2	SMART
SEL1	278	313	2.8e-9	SMART
SEL1	314	351	3.3e1	SMART
SEL1	352	385	1.31e0	SMART
SEL1	386	421	1.67e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181871

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (26/26)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI464131	G	A	4: 41,498,167	R488W	probably damaging	Het
Apob	T	C	12: 8,005,101	Y1334H	probably damaging	Het
Arsb	A	G	13: 93,790,198	T159A	possibly damaging	Het
Asb18	A	C	1: 90,014,528	V17G	probably damaging	Het
Bicd1	A	G	6: 149,511,962	K284E	probably benign	Het
Bspry	A	G	4: 62,486,449	R161G	probably damaging	Het
Ccdc138	A	G	10: 58,575,717	T636A	probably damaging	Het
Cubn	A	T	2: 13,428,680	W1140R	probably damaging	Het
Cyp2t4	A	G	7: 27,158,511	T479A	probably damaging	Het
Dtx3l	A	G	16: 35,932,935	S434P	probably damaging	Het
Duox2	A	G	2: 122,291,554	V611A	probably benign	Het
Epb41l3	T	G	17: 69,274,897		probably null	Het
Fam161b	C	T	12: 84,357,718	D63N	probably damaging	Het
Gm5422	G	A	10: 31,249,244		noncoding transcript	Het
Gpr158	A	T	2: 21,825,274	D710V	probably damaging	Het
Krtcap2	T	C	3: 89,249,142		probably null	Het
Mtrf1	T	A	14: 79,406,850	D199E	probably damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Ncf2	T	A	1: 152,821,522	Y47N	probably damaging	Het
Ovgp1	T	C	3: 105,986,410		probably benign	Het
Siglec1	G	T	2: 131,070,346	T1692N	probably benign	Het
Slc10a2	T	C	8: 5,089,092	N284S	probably benign	Het
Slfn3	T	C	11: 83,213,152	F283S	probably damaging	Het
Trank1	T	C	9: 111,391,086	F2297S	possibly damaging	Het
Vmn2r69	A	G	7: 85,409,714		probably null	Het
Vps13d	T	C	4: 145,054,190	E3957G	probably damaging	Het

Other mutations in 0610009O20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:0610009O20Rik	APN	18	38252860	missense	probably damaging	0.96
IGL02456:0610009O20Rik	APN	18	38261124	missense	probably damaging	1.00
R0134:0610009O20Rik	UTSW	18	38261264	missense	probably benign	0.37
R0225:0610009O20Rik	UTSW	18	38261264	missense	probably benign	0.37
R0511:0610009O20Rik	UTSW	18	38254071	critical splice donor site	probably null
R1899:0610009O20Rik	UTSW	18	38258342	missense	probably benign	0.04
R3005:0610009O20Rik	UTSW	18	38259959	missense	possibly damaging	0.92
R3552:0610009O20Rik	UTSW	18	38258365	splice site	probably benign
R4418:0610009O20Rik	UTSW	18	38261287	critical splice donor site	probably null
R7448:0610009O20Rik	UTSW	18	38257266	missense	probably damaging	1.00
R7671:0610009O20Rik	UTSW	18	38259925	missense	probably damaging	0.99
Z1177:0610009O20Rik	UTSW	18	38254303	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCCAGTGACTTTGACTTCCTGC -3'
(R):5'- ACCATGCCACATCTGGTCTACCTAC -3'

Sequencing Primer
(F):5'- TAGCCGAGACTTCGCATCC -3'
(R):5'- cacatctggtctacctaccCAAG -3'

Posted On

2013-06-11