Mutagenetix > Incidental Mutations

Incidental Mutation 'R1213:E330017A01Rik'

99501

Institutional Source

Beutler Lab

Gene Symbol

E330017A01Rik

Ensembl Gene

ENSMUSG00000055789

Gene Name

RIKEN cDNA E330017A01 gene

Synonyms

MMRRC Submission

039282-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1213 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58635167-58638739 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58637694 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 81 (Y81*)

Ref Sequence

ENSEMBL: ENSMUSP00000056475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053249]

AlphaFold

Q8BU47

Predicted Effect

probably null
Transcript: ENSMUST00000053249
AA Change: Y81*

SMART Domains

Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: Y81*

Domain	Start	End	E-Value	Type
Pfam:Ferritin	12	149	3.2e-11	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.2%
20x: 87.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	C	7: 28,157,673	S2149P	probably damaging	Het
Agfg1	T	C	1: 82,875,334	S142P	probably damaging	Het
Appl1	G	A	14: 26,943,993	A388V	probably benign	Het
Atp11a	A	G	8: 12,842,859	R70G	probably benign	Het
Atrnl1	G	A	19: 57,638,462	V167I	probably benign	Het
Bfar	T	C	16: 13,687,444	I106T	possibly damaging	Het
Cbx8	T	C	11: 119,039,533		probably null	Het
Cd80	T	C	16: 38,473,883	S43P	probably damaging	Het
Fat4	G	A	3: 38,890,371	A1138T	probably benign	Het
Fmo3	C	A	1: 162,967,823	G148W	probably damaging	Het
Krt78	T	C	15: 101,951,810	M224V	probably benign	Het
Moxd2	A	G	6: 40,891,897		probably benign	Het
Olfr1384	T	A	11: 49,514,594	*319K	probably null	Het
Olfr215	A	G	6: 116,582,866	S27P	probably benign	Het
Olfr702	T	A	7: 106,824,197	T110S	possibly damaging	Het
Pax6	G	A	2: 105,685,913	G179R	probably benign	Het
Rbm12	G	A	2: 156,097,492	Q287*	probably null	Het
Rtel1	T	A	2: 181,351,335	H703Q	probably benign	Het
Spag17	A	G	3: 100,095,638	R1893G	probably benign	Het
Synpo	A	G	18: 60,602,453	V807A	possibly damaging	Het

Other mutations in E330017A01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:E330017A01Rik	APN	16	58635491	missense	probably damaging	0.99
IGL00895:E330017A01Rik	APN	16	58637696	missense	probably benign	0.03
IGL03025:E330017A01Rik	APN	16	58637713	missense	probably damaging	0.99
R0833:E330017A01Rik	UTSW	16	58635523	missense	probably damaging	0.96
R0836:E330017A01Rik	UTSW	16	58635523	missense	probably damaging	0.96
R5817:E330017A01Rik	UTSW	16	58636793	missense	probably benign	0.22
R7122:E330017A01Rik	UTSW	16	58637777	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAGGCATGTAACGTCCCTGAGTTTC -3'
(R):5'- GCCCACAGTTTCATGACTGGCAAG -3'

Sequencing Primer
(F):5'- tcctgatgtagagagcaccc -3'
(R):5'- TTTCATGACTGGCAAGAAGGAG -3'

Posted On

2014-01-15