Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:Eaf2'

172697

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

039666-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36613246-36695275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36645063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 53 (V53A)

Ref Sequence

ENSEMBL: ENSMUSP00000023537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023535] [ENSMUST00000023537] [ENSMUST00000075946] [ENSMUST00000114819] [ENSMUST00000114829]

AlphaFold

Q91ZD6

Predicted Effect

probably benign
Transcript: ENSMUST00000023535

SMART Domains

Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837

Domain	Start	End	E-Value	Type
IQ	293	315	5.92e-4	SMART
low complexity region	341	358	N/A	INTRINSIC
IQ	386	408	2.66e-6	SMART
low complexity region	428	442	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000023537
AA Change: V53A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023537
Gene: ENSMUSG00000022838
AA Change: V53A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075946

SMART Domains

Protein: ENSMUSP00000075331
Gene: ENSMUSG00000022838

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: ENSMUST00000114819

SMART Domains

Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837

Domain	Start	End	E-Value	Type
IQ	293	315	5.92e-4	SMART
low complexity region	341	358	N/A	INTRINSIC
IQ	386	408	2.66e-6	SMART
low complexity region	428	442	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114829
AA Change: V53A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110477
Gene: ENSMUSG00000022838
AA Change: V53A

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: ENSMUST00000134556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232162

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
Cbx2	A	G	11: 118,919,806 (GRCm39)	D457G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Col27a1	A	G	4: 63,248,100 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Fbl	G	T	7: 27,874,212 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Khdc1a	T	A	1: 21,421,121 (GRCm39)	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,355,012 (GRCm39)	T270A	probably benign	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Or5m3b	A	G	2: 85,871,766 (GRCm39)	T36A	probably damaging	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	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
R0036:Eaf2	UTSW	16	36,621,020 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- GCTCAAACATAACAGCACAAGTGGAGAA -3'
(R):5'- GGATTGTACTCTTTAAACAGTGCCCCAA -3'

Sequencing Primer
(F):5'- CCTGTAATCACTTTCAAGTCATTGG -3'
(R):5'- caattaaggaagggacttgctac -3'

Posted On

2014-04-24