Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:0610009O20Rik'

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294156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

0610009O20Rik

Ensembl Gene

ENSMUSG00000024442

Gene Name

RIKEN cDNA 0610009O20 gene

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

38250249-38262629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38261124 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 458 (L458Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025314 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025314
AA Change: L458Q

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

SMART Domains

Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: L458Q

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly 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
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
R0560:0610009O20Rik	UTSW	18	38254498	missense	probably damaging	1.00
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

Posted On

2015-04-16