Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03327:A430105I19Rik'

416691

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A430105I19Rik

Ensembl Gene

ENSMUSG00000045838

Gene Name

RIKEN cDNA A430105I19 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03327

Quality Score

Status

Chromosome

Chromosomal Location

118754158-118762661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118761670 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 79 (N79S)

Ref Sequence

ENSEMBL: ENSMUSP00000051853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059997]

Predicted Effect

probably damaging
Transcript: ENSMUST00000059997
AA Change: N79S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051853
Gene: ENSMUSG00000045838
AA Change: N79S

Domain	Start	End	E-Value	Type
coiled coil region	52	100	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
Pfam:DUF4594	185	361	1.2e-64	PFAM
low complexity region	515	529	N/A	INTRINSIC
low complexity region	535	544	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151270

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,920,267	Y280C	probably damaging	Het
Anapc1	T	C	2: 128,623,934	T1647A	probably benign	Het
Ano3	T	C	2: 110,697,178	I562V	possibly damaging	Het
Ash1l	C	T	3: 89,023,083	P1956S	probably benign	Het
Cd160	C	T	3: 96,805,533		probably null	Het
Chd3	G	T	11: 69,350,186	A1527E	probably damaging	Het
Clcn1	C	T	6: 42,311,219	T797I	probably benign	Het
Cntnap3	G	A	13: 64,887,768	Q44*	probably null	Het
Cntnap4	A	G	8: 112,773,576	D500G	probably benign	Het
Col6a6	T	C	9: 105,767,234	D1285G	possibly damaging	Het
Cr2	A	T	1: 195,169,759	V94E	probably damaging	Het
Dcaf1	T	C	9: 106,858,624	S924P	possibly damaging	Het
Eif5b	T	C	1: 38,041,691		probably benign	Het
Fat1	A	C	8: 44,950,468	K85N	probably damaging	Het
Fnip2	T	C	3: 79,518,081	E69G	probably damaging	Het
Fzr1	T	C	10: 81,369,184	T300A	probably benign	Het
Galc	A	G	12: 98,207,476		probably benign	Het
Gm17079	T	C	14: 51,692,963	T142A	possibly damaging	Het
Hibch	G	A	1: 52,920,380		probably benign	Het
Hmmr	A	G	11: 40,715,415	C243R	probably damaging	Het
Il25	T	C	14: 54,935,360		probably benign	Het
Kif5b	G	A	18: 6,222,767	R355W	probably damaging	Het
Kifc3	C	T	8: 95,108,432	D242N	probably damaging	Het
Lig1	T	G	7: 13,303,855	I677S	probably damaging	Het
Lrig1	G	T	6: 94,606,123	A1004E	probably benign	Het
Nras	A	G	3: 103,059,024	T35A	probably damaging	Het
Nt5c1b	C	T	12: 10,374,861	Q136*	probably null	Het
Olfr1046	C	T	2: 86,217,274	W145*	probably null	Het
Olfr1278	A	T	2: 111,292,462	N65Y	probably damaging	Het
Olfr815	T	G	10: 129,902,582	I43L	possibly damaging	Het
Plcb3	A	G	19: 6,955,052	F1080L	probably benign	Het
Plpp2	T	C	10: 79,530,984		probably null	Het
Ptpre	G	A	7: 135,672,822		probably null	Het
Scn3a	G	A	2: 65,536,672	A2V	probably damaging	Het
Sh3bp4	C	A	1: 89,144,163	Y244*	probably null	Het
Trip11	A	T	12: 101,883,418	N1462K	possibly damaging	Het
Ttc21b	T	C	2: 66,237,848	D278G	possibly damaging	Het
Virma	A	G	4: 11,518,984	T694A	probably benign	Het
Wdr35	T	C	12: 8,978,694		probably benign	Het
Xdh	T	C	17: 73,916,792	E535G	probably benign	Het

Other mutations in A430105I19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:A430105I19Rik	APN	2	118759689	missense	possibly damaging	0.94
R1269:A430105I19Rik	UTSW	2	118761390	missense	possibly damaging	0.65
R1453:A430105I19Rik	UTSW	2	118757422	missense	possibly damaging	0.91
R1495:A430105I19Rik	UTSW	2	118760532	missense	probably damaging	1.00
R1529:A430105I19Rik	UTSW	2	118761760	critical splice acceptor site	probably null
R1765:A430105I19Rik	UTSW	2	118760647	missense	probably benign	0.02
R4766:A430105I19Rik	UTSW	2	118759577	missense	probably damaging	1.00
R5445:A430105I19Rik	UTSW	2	118759586	missense	probably damaging	1.00
R5891:A430105I19Rik	UTSW	2	118761383	missense	probably damaging	1.00
R5895:A430105I19Rik	UTSW	2	118759617	missense	probably benign	0.02
R7271:A430105I19Rik	UTSW	2	118760683	critical splice acceptor site	probably null

Posted On

2016-08-02