Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03025:E330017A01Rik'

408134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E330017A01Rik

Ensembl Gene

ENSMUSG00000055789

Gene Name

RIKEN cDNA E330017A01 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL03025

Quality Score

Status

Chromosome

Chromosomal Location

58635167-58638739 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58637713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 75 (I75S)

Ref Sequence

ENSEMBL: ENSMUSP00000056475 (fasta)

Gene Model

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

AlphaFold

Q8BU47

Predicted Effect

probably damaging
Transcript: ENSMUST00000053249
AA Change: I75S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: I75S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,485	N91S	possibly damaging	Het
Adora1	T	C	1: 134,203,069	Y288C	probably damaging	Het
Avil	A	T	10: 127,013,577	T581S	probably benign	Het
Cacna1h	C	T	17: 25,432,894	W92*	probably null	Het
Calr3	A	C	8: 72,434,891		probably benign	Het
Cdan1	T	C	2: 120,730,741	E181G	probably damaging	Het
Clca4a	T	C	3: 144,957,318	N590S	probably benign	Het
Cnga1	T	A	5: 72,605,413	I253F	probably benign	Het
Cngb3	T	G	4: 19,283,498		probably benign	Het
Cstf3	T	A	2: 104,608,931	Y30N	possibly damaging	Het
Cyp2a12	T	A	7: 27,031,206	S199T	probably benign	Het
Dlg1	A	G	16: 31,805,727	I412V	probably benign	Het
Fasn	C	T	11: 120,818,148	V570M	probably benign	Het
Fhit	A	G	14: 10,421,534	S85P	probably damaging	Het
Frmd5	T	A	2: 121,553,344	M369L	probably benign	Het
Gatb	T	C	3: 85,575,874	W63R	probably damaging	Het
Gga1	G	T	15: 78,888,182	L227F	probably damaging	Het
Itgb1	A	G	8: 128,722,584	N557S	possibly damaging	Het
Ltf	T	C	9: 111,025,101	V328A	possibly damaging	Het
Nefh	T	C	11: 4,945,289	E300G	probably damaging	Het
Nrip1	A	G	16: 76,294,465	V68A	probably benign	Het
Olfr24	T	C	9: 18,755,369	N89D	probably benign	Het
Pcdhb13	T	G	18: 37,442,764	V65G	probably damaging	Het
Pcdhb4	A	T	18: 37,309,977	Y780F	possibly damaging	Het
Plcd3	C	T	11: 103,074,898	E503K	probably benign	Het
Rbm6	T	A	9: 107,774,719	D903V	possibly damaging	Het
Rnf133	A	G	6: 23,649,135	M265T	probably benign	Het
Sbf1	T	C	15: 89,289,645	T1775A	probably damaging	Het
Serpina1f	T	A	12: 103,693,546	D159V	probably damaging	Het
Skap1	C	A	11: 96,702,682	S118R	probably damaging	Het
Slc17a9	C	A	2: 180,739,816		probably null	Het
Slc30a5	A	G	13: 100,813,887	S231P	probably damaging	Het
Stac2	A	G	11: 98,043,722	F52S	probably damaging	Het
Them7	T	C	2: 105,297,805	S44P	probably benign	Het
Tnmd	A	G	X: 133,865,413		probably benign	Het
Trdmt1	A	T	2: 13,523,435	I105N	probably damaging	Het
Trpc1	C	T	9: 95,710,260	G554E	probably damaging	Het
Vmn1r37	A	G	6: 66,731,756	Y85C	probably benign	Het
Zim1	T	C	7: 6,682,059	T131A	probably benign	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
R0833:E330017A01Rik	UTSW	16	58635523	missense	probably damaging	0.96
R0836:E330017A01Rik	UTSW	16	58635523	missense	probably damaging	0.96
R1213:E330017A01Rik	UTSW	16	58637694	nonsense	probably null
R5817:E330017A01Rik	UTSW	16	58636793	missense	probably benign	0.22
R7122:E330017A01Rik	UTSW	16	58637777	missense	probably benign	0.02

Posted On

2016-08-02