Mutagenetix > Incidental Mutation

Incidental Mutation 'R0036:Eaf2'

15459

Institutional Source

Beutler Lab

Gene Symbol

Eaf2

Ensembl Gene

ENSMUSG00000022838

Gene Name

ELL associated factor 2

Synonyms

FESTA-L, U19, Festa, Traits, FESTA-S

MMRRC Submission

038330-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.691) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36613246-36695275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36621020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 224 (Y224C)

Ref Sequence

ENSEMBL: ENSMUSP00000110477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023537] [ENSMUST00000075946] [ENSMUST00000114825] [ENSMUST00000114829]

AlphaFold

Q91ZD6

Predicted Effect

unknown
Transcript: ENSMUST00000023537
AA Change: T177A

SMART Domains

Protein: ENSMUSP00000023537
Gene: ENSMUSG00000022838
AA Change: T177A

Domain	Start	End	E-Value	Type
Pfam:EAF	14	116	1.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075946
AA Change: Y94C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000075331
Gene: ENSMUSG00000022838
AA Change: Y94C

Domain	Start	End	E-Value	Type
low complexity region	44	71	N/A	INTRINSIC
low complexity region	117	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114825
AA Change: Y94C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110473
Gene: ENSMUSG00000022838
AA Change: Y94C

Domain	Start	End	E-Value	Type
low complexity region	44	71	N/A	INTRINSIC
low complexity region	117	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114829
AA Change: Y224C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110477
Gene: ENSMUSG00000022838
AA Change: Y224C

Domain	Start	End	E-Value	Type
Pfam:EAF	16	115	8.6e-24	PFAM
low complexity region	174	201	N/A	INTRINSIC
low complexity region	247	262	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231782

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 79.1%
3x: 69.3%
10x: 43.3%
20x: 23.5%

Validation Efficiency

91% (49/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit premature death, enlarged heart and prostate associate with hypertrophy, and increased incidence of tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap44	A	G	16: 44,259,432 (GRCm39)	E1098G	possibly damaging	Het
Cfap95	A	T	19: 23,593,932 (GRCm39)		probably benign	Het
Ctsq	C	T	13: 61,185,485 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,860,265 (GRCm39)	V886M	probably damaging	Het
Eif5b	T	A	1: 38,058,192 (GRCm39)	S165T	probably benign	Het
Eln	A	G	5: 134,739,914 (GRCm39)		probably null	Het
Jakmip1	A	G	5: 37,291,648 (GRCm39)	K514R	probably null	Het
Myo1e	T	A	9: 70,248,590 (GRCm39)	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,365,028 (GRCm39)	I226V	probably benign	Het
Nedd4l	T	C	18: 65,184,194 (GRCm39)		probably benign	Het
Phrf1	T	C	7: 140,841,693 (GRCm39)	M1435T	probably damaging	Het
Ppic	A	T	18: 53,542,264 (GRCm39)	I148N	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,054,787 (GRCm39)	S324P	probably benign	Het
Slf1	G	T	13: 77,249,070 (GRCm39)	Q373K	probably benign	Het
Tfg	G	T	16: 56,511,358 (GRCm39)	Q324K	probably benign	Het
Wdr64	G	T	1: 175,556,496 (GRCm39)	G248*	probably null	Het

Other mutations in Eaf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Eaf2	APN	16	36,621,038 (GRCm39)	missense	probably benign	0.28
IGL01394:Eaf2	APN	16	36,630,928 (GRCm39)	missense	probably damaging	1.00
IGL03065:Eaf2	APN	16	36,648,484 (GRCm39)	missense	probably benign	0.00
R0012:Eaf2	UTSW	16	36,628,536 (GRCm39)	splice site	probably benign
R1629:Eaf2	UTSW	16	36,645,063 (GRCm39)	missense	probably damaging	0.99
R1779:Eaf2	UTSW	16	36,630,832 (GRCm39)	critical splice donor site	probably null
R1816:Eaf2	UTSW	16	36,628,371 (GRCm39)	splice site	probably benign
R1881:Eaf2	UTSW	16	36,620,941 (GRCm39)	splice site	probably benign
R4376:Eaf2	UTSW	16	36,620,998 (GRCm39)	missense	unknown
R7360:Eaf2	UTSW	16	36,648,514 (GRCm39)	missense	probably benign
R7764:Eaf2	UTSW	16	36,645,045 (GRCm39)	missense	probably damaging	1.00
R7919:Eaf2	UTSW	16	36,630,914 (GRCm39)	missense	probably damaging	1.00
Z1177:Eaf2	UTSW	16	36,645,024 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-21