Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03065:Eaf2'

409633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eaf2

Ensembl Gene

ENSMUSG00000022838

Gene Name

ELL associated factor 2

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.691) question?

Stock #

IGL03065

Quality Score

Status

Chromosome

Chromosomal Location

36613246-36695275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36648484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 12 (R12H)

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 benign
Transcript: ENSMUST00000023537
AA Change: R12H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000023537
Gene: ENSMUSG00000022838
AA Change: R12H

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

probably benign
Transcript: ENSMUST00000114829
AA Change: R12H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110477
Gene: ENSMUSG00000022838
AA Change: R12H

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: ENSMUST00000147053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232162

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	G	8: 84,665,143 (GRCm39)	M1322V	possibly damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Afg2a	T	C	3: 37,486,328 (GRCm39)	V350A	possibly damaging	Het
Als2	T	C	1: 59,255,031 (GRCm39)	S109G	probably benign	Het
Bpifa1	T	A	2: 153,989,562 (GRCm39)	N250K	probably damaging	Het
Capn9	A	C	8: 125,332,298 (GRCm39)	Y423S	probably damaging	Het
Cd200r1	T	G	16: 44,614,645 (GRCm39)	V308G	probably benign	Het
Cic	T	C	7: 24,985,246 (GRCm39)		probably benign	Het
Col5a1	T	A	2: 27,922,757 (GRCm39)	I275N	possibly damaging	Het
Col6a4	C	A	9: 105,918,363 (GRCm39)		probably benign	Het
Cpeb1	T	C	7: 81,086,038 (GRCm39)	R35G	probably benign	Het
Cul1	A	G	6: 47,472,015 (GRCm39)	Y52C	probably damaging	Het
Dctn1	T	C	6: 83,169,475 (GRCm39)	F496L	probably damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Gcc1	T	A	6: 28,418,401 (GRCm39)	Q644L	possibly damaging	Het
Gm44865	C	T	7: 108,165,004 (GRCm39)		probably benign	Het
Golgb1	C	T	16: 36,733,228 (GRCm39)	S825L	probably benign	Het
Gstp3	C	T	19: 4,108,730 (GRCm39)		probably null	Het
Heph	T	A	X: 95,571,173 (GRCm39)	I669N	probably benign	Het
Il12rb1	A	T	8: 71,273,202 (GRCm39)	Y635F	possibly damaging	Het
Ing3	G	A	6: 21,971,221 (GRCm39)	A331T	probably benign	Het
Ipo8	T	A	6: 148,686,205 (GRCm39)	I762F	probably benign	Het
Itpr3	G	A	17: 27,310,907 (GRCm39)	R510Q	probably damaging	Het
Kif16b	A	G	2: 142,461,833 (GRCm39)	Y1273H	probably damaging	Het
Map3k14	T	C	11: 103,115,927 (GRCm39)	E784G	probably damaging	Het
Mpdz	A	T	4: 81,210,802 (GRCm39)	N1694K	probably damaging	Het
Myh13	T	C	11: 67,235,679 (GRCm39)	F648S	probably damaging	Het
Myh4	A	G	11: 67,149,982 (GRCm39)	H1847R	probably benign	Het
Ncoa7	T	A	10: 30,523,993 (GRCm39)	D840V	probably damaging	Het
Nxpe2	T	A	9: 48,230,992 (GRCm39)	N459I	possibly damaging	Het
Or4d10c	C	A	19: 12,065,975 (GRCm39)	L60F	possibly damaging	Het
Or4k2	C	A	14: 50,424,465 (GRCm39)	D70Y	probably damaging	Het
Or4k47	T	C	2: 111,451,535 (GRCm39)	K295E	probably damaging	Het
Ovgp1	T	C	3: 105,893,682 (GRCm39)	F485S	probably benign	Het
Parp4	G	T	14: 56,875,326 (GRCm39)	A1182S	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pla2g15	G	A	8: 106,886,851 (GRCm39)	R114H	probably benign	Het
Plppr3	T	A	10: 79,701,880 (GRCm39)	T321S	probably benign	Het
Rnf113a1	A	G	X: 36,455,748 (GRCm39)	D235G	probably benign	Het
Rsrp1	A	G	4: 134,651,700 (GRCm39)	T155A	possibly damaging	Het
Simc1	G	T	13: 54,685,025 (GRCm39)	C87F	probably damaging	Het
Slco1a5	A	G	6: 142,194,569 (GRCm39)		probably benign	Het
Slco1a8	C	A	6: 141,938,228 (GRCm39)	L230F	probably damaging	Het
Smyd5	A	G	6: 85,419,146 (GRCm39)	D276G	possibly damaging	Het
Tmem132c	A	G	5: 127,640,688 (GRCm39)	Y953C	probably damaging	Het
Trank1	T	A	9: 111,219,361 (GRCm39)	S2033T	possibly damaging	Het
Trim69	A	G	2: 122,009,115 (GRCm39)	T392A	probably damaging	Het
Tsks	T	C	7: 44,592,724 (GRCm39)	V6A	probably damaging	Het
Yjefn3	A	G	8: 70,342,206 (GRCm39)		probably benign	Het
Zfp263	T	G	16: 3,564,344 (GRCm39)	D211E	probably benign	Het
Zfp994	A	T	17: 22,421,661 (GRCm39)	F51L	probably damaging	Het
Znfx1	A	T	2: 166,897,685 (GRCm39)	M413K	probably benign	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
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
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

2016-08-02