Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Eaf1'

259872

Institutional Source

Beutler Lab

Gene Symbol

Eaf1

Ensembl Gene

ENSMUSG00000021890

Gene Name

ELL associated factor 1

Synonyms

4933403C17Rik

MMRRC Submission

040708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31217036-31231815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31224402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 173 (I173T)

Ref Sequence

ENSEMBL: ENSMUSP00000022446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022446]

AlphaFold

Q9D4C5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022446
AA Change: I173T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022446
Gene: ENSMUSG00000021890
AA Change: I173T

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

noncoding transcript
Transcript: ENSMUST00000226564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228952

Meta Mutation Damage Score

0.1992

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	probably benign	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
IGL02151:Eaf1	APN	14	31,219,744 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATTTCAGAGCTGAGGGAAGC -3'
(R):5'- GCCCTGTAAAGTTTTGGTTGAC -3'

Sequencing Primer
(F):5'- GCAGTAAAATCCAAGCTCGAATG -3'
(R):5'- GTTTCTAAGAAGACAGTCACACTCG -3'

Posted On

2015-01-23