Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02216:0610009O20Rik'

284913

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: 0.210) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

38250249-38262629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38252860 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 102 (I102F)

Ref Sequence

ENSEMBL: ENSMUSP00000025314 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025314
AA Change: I102F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: I102F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Ap5s1	T	A	2: 131,212,967		probably benign	Het
Atp10b	T	A	11: 43,259,789	L1438Q	probably damaging	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Klhl1	T	A	14: 96,123,222	T731S	probably benign	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mcm8	G	T	2: 132,839,529	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Neo1	T	C	9: 58,917,053	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Pramef8	T	A	4: 143,417,728		probably null	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,905,164	M241L	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	probably damaging	Het

Other mutations in 0610009O20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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