Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02867:Ear10'

362353

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ear10

Ensembl Gene

ENSMUSG00000090166

Gene Name

eosinophil-associated, ribonuclease A family, member 10

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02867

Quality Score

Status

Chromosome

Chromosomal Location

44160355-44161053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44160726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 34 (F34L)

Ref Sequence

ENSEMBL: ENSMUSP00000130933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159175] [ENSMUST00000160298] [ENSMUST00000163652]

AlphaFold

Q923L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000159175
AA Change: F34L

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

SMART Domains

Protein: ENSMUSP00000123872
Gene: ENSMUSG00000090166
AA Change: F34L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
RNAse_Pc	27	156	9.52e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160298

SMART Domains

Protein: ENSMUSP00000125038
Gene: ENSMUSG00000089901

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	365	404	N/A	INTRINSIC
transmembrane domain	530	552	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163652
AA Change: F34L

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

SMART Domains

Protein: ENSMUSP00000130933
Gene: ENSMUSG00000090166
AA Change: F34L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
RNAse_Pc	27	156	9.52e-58	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	A	5: 24,776,149 (GRCm39)	Y310F	probably benign	Het
Adarb1	C	T	10: 77,149,375 (GRCm39)	V371I	probably benign	Het
Antxr2	G	T	5: 98,125,509 (GRCm39)	H249Q	probably benign	Het
Arel1	A	T	12: 84,981,097 (GRCm39)	N303K	probably benign	Het
Bloc1s6	T	C	2: 122,584,604 (GRCm39)	Y60H	probably damaging	Het
Ccdc125	A	T	13: 100,820,790 (GRCm39)		probably benign	Het
Cxcl16	A	T	11: 70,349,892 (GRCm39)	Y45N	possibly damaging	Het
Dnajb3	T	A	1: 88,133,249 (GRCm39)	Q51L	probably benign	Het
Fgf11	A	G	11: 69,690,498 (GRCm39)	S100P	possibly damaging	Het
Fpgs	G	A	2: 32,575,891 (GRCm39)		probably benign	Het
Fyb1	A	T	15: 6,609,527 (GRCm39)	Q33H	probably damaging	Het
Ints3	G	T	3: 90,300,143 (GRCm39)	H925N	probably damaging	Het
Krt16	T	C	11: 100,138,402 (GRCm39)	K249E	probably damaging	Het
Lrp2	A	T	2: 69,382,794 (GRCm39)	S30R	possibly damaging	Het
Naa35	T	C	13: 59,756,668 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,770,970 (GRCm39)	I34V	probably benign	Het
Or1e22	A	G	11: 73,376,817 (GRCm39)	Y278H	probably damaging	Het
Or8g2b	A	G	9: 39,751,533 (GRCm39)	M268V	probably benign	Het
Osbpl6	A	G	2: 76,426,214 (GRCm39)		probably benign	Het
Pramel6	A	T	2: 87,340,736 (GRCm39)	Q356L	probably damaging	Het
Prima1	A	G	12: 103,163,575 (GRCm39)	V132A	probably benign	Het
Psme1	A	G	14: 55,817,383 (GRCm39)		probably benign	Het
Rdh11	A	G	12: 79,235,828 (GRCm39)	V40A	possibly damaging	Het
Rin1	C	T	19: 5,103,198 (GRCm39)	R485C	probably damaging	Het
Rnf40	C	A	7: 127,190,601 (GRCm39)	S255*	probably null	Het
Spata24	C	A	18: 35,789,805 (GRCm39)	R194L	probably benign	Het
Spata31h1	C	T	10: 82,119,654 (GRCm39)	S482N	probably damaging	Het
Tas1r1	A	T	4: 152,112,735 (GRCm39)	S773T	probably damaging	Het
Trdv5	G	T	14: 54,386,429 (GRCm39)		probably benign	Het
Trpc3	A	C	3: 36,694,850 (GRCm39)	D701E	probably benign	Het
Vim	A	G	2: 13,585,491 (GRCm39)	R424G	probably damaging	Het
Vmn1r216	A	C	13: 23,283,649 (GRCm39)	T111P	probably damaging	Het
Zbtb26	A	C	2: 37,326,261 (GRCm39)	N247K	probably benign	Het
Zfp629	T	G	7: 127,209,203 (GRCm39)		probably benign	Het

Other mutations in Ear10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:Ear10	APN	14	44,160,785 (GRCm39)	missense	probably damaging	0.99
IGL02889:Ear10	APN	14	44,160,726 (GRCm39)	missense	probably damaging	0.99
IGL02962:Ear10	APN	14	44,160,774 (GRCm39)	missense	probably damaging	1.00
R0636:Ear10	UTSW	14	44,160,451 (GRCm39)	splice site	probably null
R1924:Ear10	UTSW	14	44,160,357 (GRCm39)	makesense	probably null
R4289:Ear10	UTSW	14	44,160,404 (GRCm39)	missense	probably benign	0.00
R6351:Ear10	UTSW	14	44,160,512 (GRCm39)	missense	probably damaging	1.00
R7291:Ear10	UTSW	14	44,160,377 (GRCm39)	missense	probably damaging	1.00
R8374:Ear10	UTSW	14	44,160,645 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18