Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00660:E130308A19Rik'

10429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

IGL00660

Quality Score

Status

Chromosome

Chromosomal Location

59626116-59757649 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 59737743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070150]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070150

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
Pfam:DUF3504	532	687	4.5e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221633

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b1	T	A	13: 94,527,371 (GRCm39)	V67D	probably damaging	Het
Calml4	A	G	9: 62,782,774 (GRCm39)	K91R	probably benign	Het
Cdin1	C	T	2: 115,607,466 (GRCm39)	A273V	possibly damaging	Het
Cracd	A	T	5: 77,002,780 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,339,944 (GRCm39)	I404T	probably damaging	Het
Dync2h1	C	T	9: 7,075,797 (GRCm39)	M3023I	probably damaging	Het
Mcm9	A	T	10: 53,499,069 (GRCm39)	L291Q	probably damaging	Het
Mettl21e	T	C	1: 44,245,530 (GRCm39)	K239E	possibly damaging	Het
Pla2g4a	T	C	1: 149,761,954 (GRCm39)	N160D	probably benign	Het
Prelid3b	T	C	2: 174,307,598 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,288,456 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,382,136 (GRCm39)	I204V	probably benign	Het
Zfp93	G	T	7: 23,975,117 (GRCm39)	K367N	probably damaging	Het

Other mutations in E130308A19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:E130308A19Rik	APN	4	59,719,697 (GRCm39)	missense	probably benign	0.00
IGL00937:E130308A19Rik	APN	4	59,690,846 (GRCm39)	missense	probably benign	0.01
IGL01885:E130308A19Rik	APN	4	59,720,004 (GRCm39)	missense	probably benign	0.20
IGL02638:E130308A19Rik	APN	4	59,719,676 (GRCm39)	nonsense	probably null
H8562:E130308A19Rik	UTSW	4	59,691,033 (GRCm39)	missense	possibly damaging	0.70
R0044:E130308A19Rik	UTSW	4	59,690,290 (GRCm39)	missense	possibly damaging	0.86
R0523:E130308A19Rik	UTSW	4	59,719,716 (GRCm39)	missense	probably damaging	0.98
R0788:E130308A19Rik	UTSW	4	59,719,847 (GRCm39)	missense	possibly damaging	0.76
R1215:E130308A19Rik	UTSW	4	59,690,743 (GRCm39)	missense	probably benign	0.37
R1490:E130308A19Rik	UTSW	4	59,719,746 (GRCm39)	missense	probably damaging	0.99
R2292:E130308A19Rik	UTSW	4	59,690,579 (GRCm39)	missense	probably damaging	0.99
R3907:E130308A19Rik	UTSW	4	59,752,393 (GRCm39)	missense	probably benign	0.14
R4288:E130308A19Rik	UTSW	4	59,690,308 (GRCm39)	missense	probably benign	0.33
R4780:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4781:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4834:E130308A19Rik	UTSW	4	59,690,317 (GRCm39)	nonsense	probably null
R4985:E130308A19Rik	UTSW	4	59,691,017 (GRCm39)	missense	probably benign	0.01
R6123:E130308A19Rik	UTSW	4	59,737,565 (GRCm39)	missense	probably damaging	1.00
R6290:E130308A19Rik	UTSW	4	59,691,332 (GRCm39)	missense	probably benign	0.25
R6315:E130308A19Rik	UTSW	4	59,691,132 (GRCm39)	missense	probably benign
R6643:E130308A19Rik	UTSW	4	59,720,561 (GRCm39)	missense	possibly damaging	0.90
R6763:E130308A19Rik	UTSW	4	59,752,288 (GRCm39)	missense	probably damaging	0.99
R6980:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7036:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7078:E130308A19Rik	UTSW	4	59,737,688 (GRCm39)	missense	probably damaging	1.00
R7098:E130308A19Rik	UTSW	4	59,753,004 (GRCm39)	missense	possibly damaging	0.88
R7171:E130308A19Rik	UTSW	4	59,690,333 (GRCm39)	missense	probably damaging	1.00
R7247:E130308A19Rik	UTSW	4	59,690,502 (GRCm39)	missense	probably damaging	1.00
R7366:E130308A19Rik	UTSW	4	59,752,770 (GRCm39)	missense	probably damaging	0.99
R7916:E130308A19Rik	UTSW	4	59,719,841 (GRCm39)	missense	probably damaging	1.00
R8050:E130308A19Rik	UTSW	4	59,719,767 (GRCm39)	missense	probably damaging	1.00
R8445:E130308A19Rik	UTSW	4	59,720,526 (GRCm39)	missense	probably damaging	0.99
R8795:E130308A19Rik	UTSW	4	59,737,676 (GRCm39)	missense	possibly damaging	0.93
R9088:E130308A19Rik	UTSW	4	59,737,594 (GRCm39)	missense	probably benign	0.16
R9663:E130308A19Rik	UTSW	4	59,719,764 (GRCm39)	missense	possibly damaging	0.87
Z1176:E130308A19Rik	UTSW	4	59,720,313 (GRCm39)	missense	probably damaging	1.00
Z1177:E130308A19Rik	UTSW	4	59,720,223 (GRCm39)	missense	probably benign

Posted On

2012-12-06