Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Elf3'

281564

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elf3

Ensembl Gene

ENSMUSG00000003051

Gene Name

E74-like factor 3

Synonyms

ESX, jen, ESE-1

Accession Numbers

Ncbi RefSeq: NM_001163131.1, NM_007921.3; MGI:1101781

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

135253575-135258568 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135257707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 23 (D23G)

Ref Sequence

ENSEMBL: ENSMUSP00000139769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003135] [ENSMUST00000185752]

AlphaFold

Q3UPW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003135
AA Change: D23G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: D23G

Domain	Start	End	E-Value	Type
SAM_PNT	67	151	6.32e-30	SMART
low complexity region	230	241	N/A	INTRINSIC
AT_hook	264	276	1.29e0	SMART
ETS	292	379	6.11e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180981

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185752
AA Change: D23G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: D23G

Domain	Start	End	E-Value	Type
SAM_PNT	47	131	1.36e-29	SMART
low complexity region	210	221	N/A	INTRINSIC
AT_hook	244	256	1.29e0	SMART
ETS	272	359	6.11e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188895

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 2662485
Lethality: D11-D21
PHENOTYPE: About one third of mice homozygous for a reporter allele die at E11.5; over half of those born develop a wasted phenotype, lethargy and watery diarrhea and die during the first few weeks of life exhibiting dysmorphogenesis and altered differentiation of small intestinal epithelium. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465 (GRCm38)	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906 (GRCm38)		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200 (GRCm38)	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095 (GRCm38)		probably benign	Het
Atf6b	C	A	17: 34,653,277 (GRCm38)	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557 (GRCm38)		probably null	Het
Cep89	T	A	7: 35,420,924 (GRCm38)	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118 (GRCm38)		probably null	Het
Cops5	T	C	1: 10,035,117 (GRCm38)	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784 (GRCm38)	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523 (GRCm38)	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889 (GRCm38)	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696 (GRCm38)		probably benign	Het
Eci2	T	A	13: 34,978,673 (GRCm38)	T300S	probably benign	Het
Egf	C	A	3: 129,739,982 (GRCm38)	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322 (GRCm38)	V444A	probably benign	Het
Epb41l4b	A	T	4: 57,103,422 (GRCm38)		probably null	Het
Fam167a	T	A	14: 63,452,259 (GRCm38)	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688 (GRCm38)	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378 (GRCm38)	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104 (GRCm38)		probably benign	Het
Gpr158	A	T	2: 21,783,290 (GRCm38)	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145 (GRCm38)	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713 (GRCm38)	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362 (GRCm38)	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121 (GRCm38)	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086 (GRCm38)	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615 (GRCm38)	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074 (GRCm38)		probably benign	Het
Luc7l	C	A	17: 26,253,080 (GRCm38)	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599 (GRCm38)	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367 (GRCm38)	C1091G	unknown	Het
Mut	A	G	17: 40,938,817 (GRCm38)	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006 (GRCm38)	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525 (GRCm38)	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015 (GRCm38)	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721 (GRCm38)	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808 (GRCm38)	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425 (GRCm38)	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382 (GRCm38)	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931 (GRCm38)	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397 (GRCm38)	S887T	probably benign	Het
Plec	T	C	15: 76,175,615 (GRCm38)	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034 (GRCm38)	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672 (GRCm38)	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081 (GRCm38)	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374 (GRCm38)	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315 (GRCm38)	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844 (GRCm38)	N216K	probably benign	Het
Suox	A	G	10: 128,672,098 (GRCm38)		probably benign	Het
Tars	T	A	15: 11,391,194 (GRCm38)	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179 (GRCm38)		probably null	Het
Ubtd2	A	T	11: 32,499,262 (GRCm38)	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434 (GRCm38)	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379 (GRCm38)	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081 (GRCm38)	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953 (GRCm38)	H403R	probably damaging	Het

Other mutations in Elf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02470:Elf3	APN	1	135,255,012 (GRCm38)	missense	probably damaging	1.00
IGL03018:Elf3	APN	1	135,256,065 (GRCm38)	missense	possibly damaging	0.62
IGL03252:Elf3	APN	1	135,254,953 (GRCm38)	missense	probably damaging	1.00
P0026:Elf3	UTSW	1	135,255,973 (GRCm38)	critical splice donor site	probably null
R0087:Elf3	UTSW	1	135,257,137 (GRCm38)	missense	probably damaging	1.00
R1842:Elf3	UTSW	1	135,256,793 (GRCm38)	missense	possibly damaging	0.65
R1897:Elf3	UTSW	1	135,257,137 (GRCm38)	missense	probably damaging	1.00
R2081:Elf3	UTSW	1	135,257,076 (GRCm38)	missense	probably benign	0.12
R4049:Elf3	UTSW	1	135,254,277 (GRCm38)	missense	probably benign	0.21
R4467:Elf3	UTSW	1	135,256,844 (GRCm38)	missense	probably damaging	1.00
R4630:Elf3	UTSW	1	135,256,740 (GRCm38)	intron	probably benign
R4715:Elf3	UTSW	1	135,257,752 (GRCm38)	missense	probably damaging	1.00
R4923:Elf3	UTSW	1	135,256,735 (GRCm38)	intron	probably benign
R5226:Elf3	UTSW	1	135,257,239 (GRCm38)	missense	probably benign	0.07
R5422:Elf3	UTSW	1	135,255,040 (GRCm38)	missense	probably damaging	0.98
R5706:Elf3	UTSW	1	135,256,482 (GRCm38)	missense	probably benign	0.01
R7115:Elf3	UTSW	1	135,257,118 (GRCm38)	missense	probably damaging	1.00
R7644:Elf3	UTSW	1	135,256,506 (GRCm38)	missense	possibly damaging	0.89
R7855:Elf3	UTSW	1	135,254,352 (GRCm38)	missense	probably damaging	1.00
R7940:Elf3	UTSW	1	135,257,128 (GRCm38)	missense	probably damaging	1.00
R8315:Elf3	UTSW	1	135,256,576 (GRCm38)	missense	probably benign	0.00
R8723:Elf3	UTSW	1	135,257,647 (GRCm38)	missense	possibly damaging	0.95
R8724:Elf3	UTSW	1	135,254,360 (GRCm38)	missense	probably damaging	1.00
R8906:Elf3	UTSW	1	135,254,940 (GRCm38)	missense	probably damaging	1.00
R8960:Elf3	UTSW	1	135,255,075 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16