Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02194:4931414P19Rik'

284009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4931414P19Rik

Ensembl Gene

ENSMUSG00000022179

Gene Name

RIKEN cDNA 4931414P19 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02194

Quality Score

Status

Chromosome

Chromosomal Location

54821120-54843450 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 54828812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 230 (Q230*)

Ref Sequence

ENSEMBL: ENSMUSP00000022786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022786]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000022786
AA Change: Q230*

SMART Domains

Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: Q230*

Domain	Start	End	E-Value	Type
Pfam:DUF4616	2	538	1.5e-263	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	C	T	12: 76,374,807 (GRCm39)	P80S	probably damaging	Het
Akap6	T	A	12: 52,933,606 (GRCm39)	M366K	probably benign	Het
Ankef1	T	A	2: 136,392,429 (GRCm39)	D539E	probably benign	Het
Anxa11	A	G	14: 25,870,553 (GRCm39)	D39G	unknown	Het
Atp13a4	G	T	16: 29,275,447 (GRCm39)	H346N	probably damaging	Het
Btnl1	A	C	17: 34,598,509 (GRCm39)	T42P	possibly damaging	Het
Cul3	T	A	1: 80,300,754 (GRCm39)	Y29F	probably benign	Het
Dcun1d4	A	G	5: 73,638,544 (GRCm39)		probably benign	Het
Det1	A	T	7: 78,489,912 (GRCm39)	V371E	probably benign	Het
Duoxa2	C	A	2: 122,132,330 (GRCm39)	A248D	possibly damaging	Het
Ehbp1l1	A	T	19: 5,768,885 (GRCm39)	I806K	probably benign	Het
Fam76b	G	T	9: 13,744,274 (GRCm39)	G124W	probably damaging	Het
Fhl5	T	C	4: 25,211,341 (GRCm39)	E117G	probably benign	Het
Ighv15-2	T	C	12: 114,528,341 (GRCm39)	I70V	probably damaging	Het
Iqca1	T	C	1: 89,973,385 (GRCm39)	T768A	probably benign	Het
Itih1	A	C	14: 30,652,322 (GRCm39)	D786E	probably benign	Het
Krt15	A	G	11: 100,022,839 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,857,746 (GRCm39)		probably null	Het
Map3k4	G	T	17: 12,467,882 (GRCm39)	Q1051K	probably benign	Het
Map3k4	G	T	17: 12,482,815 (GRCm39)	P634H	probably damaging	Het
Mettl21e	T	C	1: 44,250,343 (GRCm39)	D21G	probably benign	Het
Mre11a	T	C	9: 14,726,505 (GRCm39)	S423P	possibly damaging	Het
Mzf1	T	A	7: 12,777,647 (GRCm39)	T665S	possibly damaging	Het
Or4c111	T	C	2: 88,844,231 (GRCm39)	Y59C	probably damaging	Het
Or7c19	T	A	8: 85,957,262 (GRCm39)	I46N	possibly damaging	Het
Otx2	A	T	14: 48,898,850 (GRCm39)	V52D	possibly damaging	Het
Rnf157	C	T	11: 116,237,858 (GRCm39)		probably null	Het
Ssxa1	T	A	X: 20,987,394 (GRCm39)	I115N	unknown	Het
Ube2q2l	T	C	6: 136,378,056 (GRCm39)	Q258R	probably benign	Het

Other mutations in 4931414P19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:4931414P19Rik	APN	14	54,833,035 (GRCm39)	missense	possibly damaging	0.56
IGL01448:4931414P19Rik	APN	14	54,823,417 (GRCm39)	missense	possibly damaging	0.77
IGL01934:4931414P19Rik	APN	14	54,823,112 (GRCm39)	missense	probably damaging	1.00
IGL02721:4931414P19Rik	APN	14	54,823,202 (GRCm39)	missense	probably damaging	1.00
IGL03124:4931414P19Rik	APN	14	54,832,596 (GRCm39)	missense	probably benign	0.00
R0575:4931414P19Rik	UTSW	14	54,828,709 (GRCm39)	missense	possibly damaging	0.62
R2049:4931414P19Rik	UTSW	14	54,822,444 (GRCm39)	nonsense	probably null
R3829:4931414P19Rik	UTSW	14	54,821,966 (GRCm39)	missense	probably damaging	1.00
R3876:4931414P19Rik	UTSW	14	54,828,857 (GRCm39)	nonsense	probably null
R4392:4931414P19Rik	UTSW	14	54,822,435 (GRCm39)	critical splice donor site	probably null
R4680:4931414P19Rik	UTSW	14	54,822,533 (GRCm39)	missense	probably damaging	1.00
R4805:4931414P19Rik	UTSW	14	54,832,911 (GRCm39)	missense	probably benign	0.00
R4940:4931414P19Rik	UTSW	14	54,828,782 (GRCm39)	missense	probably benign
R5091:4931414P19Rik	UTSW	14	54,823,168 (GRCm39)	missense	probably damaging	1.00
R5291:4931414P19Rik	UTSW	14	54,823,394 (GRCm39)	missense	probably damaging	1.00
R5594:4931414P19Rik	UTSW	14	54,822,441 (GRCm39)	missense	probably damaging	1.00
R6815:4931414P19Rik	UTSW	14	54,828,610 (GRCm39)	missense	probably damaging	1.00
R7031:4931414P19Rik	UTSW	14	54,833,058 (GRCm39)	missense	probably benign	0.23
R7229:4931414P19Rik	UTSW	14	54,832,809 (GRCm39)	missense	probably benign	0.00
R7616:4931414P19Rik	UTSW	14	54,823,123 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16