Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02151:Eaf1'

282006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eaf1

Ensembl Gene

ENSMUSG00000021890

Gene Name

ELL associated factor 1

Synonyms

4933403C17Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02151

Quality Score

Status

Chromosome

Chromosomal Location

31217036-31231815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31219744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 61 (T61M)

Ref Sequence

ENSEMBL: ENSMUSP00000022446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022446] [ENSMUST00000055303] [ENSMUST00000227595] [ENSMUST00000227777] [ENSMUST00000228181] [ENSMUST00000228943] [ENSMUST00000228727]

AlphaFold

Q9D4C5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022446
AA Change: T61M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022446
Gene: ENSMUSG00000021890
AA Change: T61M

Domain	Start	End	E-Value	Type
Pfam:EAF	14	114	3.4e-26	PFAM
low complexity region	125	153	N/A	INTRINSIC
low complexity region	188	211	N/A	INTRINSIC
low complexity region	218	232	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055303

SMART Domains

Protein: ENSMUSP00000077138
Gene: ENSMUSG00000021891

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	49	241	3.3e-13	PFAM
Pfam:Methyltransf_31	77	215	5.1e-9	PFAM
Pfam:Methyltransf_18	79	190	5.8e-10	PFAM
Pfam:Methyltransf_12	84	183	5.9e-17	PFAM
Pfam:Methyltransf_11	84	187	3.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226564

Predicted Effect

probably benign
Transcript: ENSMUST00000227595

Predicted Effect

probably benign
Transcript: ENSMUST00000227777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227852

Predicted Effect

probably benign
Transcript: ENSMUST00000228181

Predicted Effect

probably benign
Transcript: ENSMUST00000228943

Predicted Effect

probably benign
Transcript: ENSMUST00000228727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228952

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	G	T	5: 50,136,484 (GRCm39)	T667N	probably benign	Het
Aff4	T	C	11: 53,290,633 (GRCm39)	I531T	probably benign	Het
Akap9	C	T	5: 4,082,728 (GRCm39)	Q1951*	probably null	Het
Arhgef10	C	T	8: 14,978,889 (GRCm39)	T52M	possibly damaging	Het
Atg2a	A	G	19: 6,305,787 (GRCm39)	E1132G	possibly damaging	Het
AW551984	A	C	9: 39,504,241 (GRCm39)	I575S	probably benign	Het
Cfap299	C	T	5: 98,477,301 (GRCm39)	T24M	probably damaging	Het
Cog7	T	C	7: 121,543,031 (GRCm39)	E460G	probably damaging	Het
Ctse	A	G	1: 131,600,273 (GRCm39)	I341V	probably benign	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Dcxr	T	A	11: 120,616,809 (GRCm39)	M158L	probably benign	Het
Dnah11	A	T	12: 118,023,623 (GRCm39)		probably benign	Het
Dnah7a	T	A	1: 53,512,023 (GRCm39)	I3013F	probably benign	Het
Dnah8	A	G	17: 30,867,391 (GRCm39)	D281G	possibly damaging	Het
Dpysl3	G	A	18: 43,491,365 (GRCm39)	H136Y	probably damaging	Het
Fmnl1	A	G	11: 103,083,598 (GRCm39)	T441A	probably benign	Het
Hmgcll1	C	T	9: 75,988,720 (GRCm39)	P197L	probably benign	Het
Kdm4b	T	C	17: 56,703,234 (GRCm39)	V643A	probably benign	Het
Lrch2	A	G	X: 146,336,716 (GRCm39)	F111L	possibly damaging	Het
Macf1	A	T	4: 123,265,559 (GRCm39)		probably benign	Het
Mfsd4b2	T	C	10: 39,797,687 (GRCm39)	N223D	probably damaging	Het
Mug1	G	A	6: 121,861,649 (GRCm39)		probably null	Het
Nek7	A	T	1: 138,414,838 (GRCm39)	L270Q	probably damaging	Het
Nexn	T	A	3: 151,953,881 (GRCm39)	D127V	probably damaging	Het
Nxf3	A	G	X: 134,980,322 (GRCm39)	F130S	probably damaging	Het
Or11a4	T	A	17: 37,536,057 (GRCm39)	F14I	probably damaging	Het
Or52ac1	A	G	7: 104,245,741 (GRCm39)	S216P	probably damaging	Het
Pcdhb16	G	A	18: 37,611,411 (GRCm39)	V124I	possibly damaging	Het
Podxl	T	C	6: 31,501,394 (GRCm39)	D387G	possibly damaging	Het
Prp2rt	T	A	13: 97,235,682 (GRCm39)	T22S	probably null	Het
Rab3d	C	A	9: 21,827,020 (GRCm39)	R70M	probably damaging	Het
Ripk2	A	T	4: 16,139,240 (GRCm39)	M219K	possibly damaging	Het
Rnf146	A	G	10: 29,223,349 (GRCm39)	V179A	probably damaging	Het
Robo1	G	T	16: 72,786,504 (GRCm39)	V839L	probably benign	Het
Rttn	T	A	18: 89,038,329 (GRCm39)	N808K	probably damaging	Het
Slc12a3	T	G	8: 95,075,220 (GRCm39)	V738G	probably benign	Het
Slc26a3	T	C	12: 31,497,830 (GRCm39)	V78A	probably damaging	Het
Slc26a9	G	A	1: 131,691,781 (GRCm39)	V675M	probably damaging	Het
Sncb	T	A	13: 54,910,509 (GRCm39)	I76F	probably benign	Het
Stat4	G	A	1: 52,053,029 (GRCm39)	R70H	probably damaging	Het
Tle6	T	C	10: 81,434,474 (GRCm39)	M42V	probably benign	Het
Tmem67	T	C	4: 12,068,882 (GRCm39)	T439A	probably benign	Het
Ugt2b35	C	A	5: 87,151,141 (GRCm39)	T249K	possibly damaging	Het
Vmn1r231	C	T	17: 21,109,997 (GRCm39)	R306K	probably benign	Het
Vmn1r42	A	T	6: 89,822,023 (GRCm39)	I182N	possibly damaging	Het
Zfhx3	T	C	8: 109,520,515 (GRCm39)	S546P	probably damaging	Het
Zic3	G	T	X: 57,076,899 (GRCm39)		probably null	Het

Other mutations in Eaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Eaf1	APN	14	31,226,483 (GRCm39)	splice site	probably null
IGL01380:Eaf1	APN	14	31,219,767 (GRCm39)	unclassified	probably benign
IGL02512:Eaf1	APN	14	31,219,743 (GRCm39)	missense	possibly damaging	0.92
R0183:Eaf1	UTSW	14	31,217,272 (GRCm39)	missense	probably damaging	1.00
R3715:Eaf1	UTSW	14	31,224,402 (GRCm39)	missense	possibly damaging	0.94
R4639:Eaf1	UTSW	14	31,226,333 (GRCm39)	missense	probably benign	0.01
R7346:Eaf1	UTSW	14	31,216,777 (GRCm39)	unclassified	probably benign
R9244:Eaf1	UTSW	14	31,219,766 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16