Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Elf3'

607168

Institutional Source

Beutler Lab

Gene Symbol

Elf3

Ensembl Gene

ENSMUSG00000003051

Gene Name

E74-like factor 3

Synonyms

ESE-1, jen, ESX

MMRRC Submission

045908-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135181312-135186210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135182090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 364 (R364W)

Ref Sequence

ENSEMBL: ENSMUSP00000003135 (fasta)

Gene Model

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

AlphaFold

Q3UPW2

PDB Structure

Crystal structure of mouse Elf3 C-terminal DNA-binding domain in complex with type II TGF-beta receptor promoter DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000003135
AA Change: R364W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: R364W

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

probably damaging
Transcript: ENSMUST00000185752
AA Change: R344W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: R344W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,082,454 (GRCm39)	V1173D	probably benign	Het
Ace	A	T	11: 105,863,205 (GRCm39)	M327L	probably benign	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bicdl2	C	T	17: 23,884,991 (GRCm39)	Q231*	probably null	Het
Brms1l	A	T	12: 55,912,838 (GRCm39)	D277V	possibly damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Col6a3	G	T	1: 90,738,343 (GRCm39)	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,986,658 (GRCm39)	M262K	probably benign	Het
Cpxm2	G	T	7: 131,659,424 (GRCm39)	P481Q	possibly damaging	Het
Dipk1c	G	A	18: 84,748,171 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,551,286 (GRCm39)	V2543F	probably benign	Het
Dock2	A	C	11: 34,223,698 (GRCm39)	D1145E	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,593,923 (GRCm39)	I55T	probably damaging	Het
Gfer	C	A	17: 24,913,259 (GRCm39)	D198Y	probably damaging	Het
Gm11568	A	T	11: 99,749,010 (GRCm39)	T72S	unknown	Het
Igkv3-1	C	T	6: 70,681,053 (GRCm39)	A84V	probably benign	Het
Il1rl2	A	C	1: 40,382,279 (GRCm39)	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,685,147 (GRCm39)	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,130,507 (GRCm39)	R667H	probably benign	Het
Kcnh7	G	A	2: 62,667,538 (GRCm39)	Q334*	probably null	Het
Lctl	A	C	9: 64,040,498 (GRCm39)	R480S	possibly damaging	Het
Lrba	T	G	3: 86,222,737 (GRCm39)	I617S	possibly damaging	Het
Marf1	G	T	16: 13,932,065 (GRCm39)	H1651N	probably benign	Het
Mitf	T	A	6: 97,970,157 (GRCm39)	Y142N	probably damaging	Het
Or51v14	T	A	7: 103,260,979 (GRCm39)	I194F	possibly damaging	Het
Or52r1	A	G	7: 102,536,835 (GRCm39)	V175A	probably benign	Het
Pecam1	A	G	11: 106,562,576 (GRCm39)	V708A	probably benign	Het
Pinlyp	C	T	7: 24,241,865 (GRCm39)		probably null	Het
Polh	G	A	17: 46,486,174 (GRCm39)	R382W	probably damaging	Het
Pramel51	A	T	12: 88,142,853 (GRCm39)	I450N	probably benign	Het
Prdm10	A	G	9: 31,238,770 (GRCm39)	I221V	probably benign	Het
Pskh1	G	T	8: 106,639,722 (GRCm39)	R134L	probably benign	Het
Ptpre	A	G	7: 135,253,724 (GRCm39)	N6D	probably benign	Het
Rasgrp4	C	T	7: 28,850,035 (GRCm39)	P58L	unknown	Het
Rhbdf2	G	T	11: 116,493,066 (GRCm39)	C393*	probably null	Het
Rlf	T	C	4: 121,039,888 (GRCm39)	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,721,509 (GRCm39)	R2641*	probably null	Het
Semp2l1	A	C	1: 32,585,114 (GRCm39)	I265M	probably damaging	Het
Simc1	A	G	13: 54,672,645 (GRCm39)	H331R	probably benign	Het
Skp2	A	G	15: 9,122,328 (GRCm39)	S256P	probably benign	Het
Smarcd2	T	C	11: 106,158,392 (GRCm39)	R10G	probably benign	Het
Spef2	A	G	15: 9,687,981 (GRCm39)	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,523,081 (GRCm39)	H1541R	probably damaging	Het
Top1	T	A	2: 160,556,008 (GRCm39)	L489Q	probably damaging	Het
Ttll13	C	T	7: 79,903,845 (GRCm39)	H258Y	probably damaging	Het
Unc80	A	G	1: 66,522,508 (GRCm39)	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,149,623 (GRCm39)	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,818,130 (GRCm39)	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,709,042 (GRCm39)	H58Y	possibly damaging	Het
Zfp1002	C	T	2: 150,097,066 (GRCm39)	R121Q	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp467	T	C	6: 48,416,115 (GRCm39)	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,768,067 (GRCm39)	S721T	possibly damaging	Het
Zfta	T	A	19: 7,399,621 (GRCm39)	I456N	probably damaging	Het

Other mutations in Elf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Elf3	APN	1	135,185,445 (GRCm39)	missense	possibly damaging	0.94
IGL02470:Elf3	APN	1	135,182,750 (GRCm39)	missense	probably damaging	1.00
IGL03018:Elf3	APN	1	135,183,803 (GRCm39)	missense	possibly damaging	0.62
IGL03252:Elf3	APN	1	135,182,691 (GRCm39)	missense	probably damaging	1.00
P0026:Elf3	UTSW	1	135,183,711 (GRCm39)	critical splice donor site	probably null
R0087:Elf3	UTSW	1	135,184,875 (GRCm39)	missense	probably damaging	1.00
R1842:Elf3	UTSW	1	135,184,531 (GRCm39)	missense	possibly damaging	0.65
R1897:Elf3	UTSW	1	135,184,875 (GRCm39)	missense	probably damaging	1.00
R2081:Elf3	UTSW	1	135,184,814 (GRCm39)	missense	probably benign	0.12
R4049:Elf3	UTSW	1	135,182,015 (GRCm39)	missense	probably benign	0.21
R4467:Elf3	UTSW	1	135,184,582 (GRCm39)	missense	probably damaging	1.00
R4630:Elf3	UTSW	1	135,184,478 (GRCm39)	intron	probably benign
R4715:Elf3	UTSW	1	135,185,490 (GRCm39)	missense	probably damaging	1.00
R4923:Elf3	UTSW	1	135,184,473 (GRCm39)	intron	probably benign
R5226:Elf3	UTSW	1	135,184,977 (GRCm39)	missense	probably benign	0.07
R5422:Elf3	UTSW	1	135,182,778 (GRCm39)	missense	probably damaging	0.98
R5706:Elf3	UTSW	1	135,184,220 (GRCm39)	missense	probably benign	0.01
R7115:Elf3	UTSW	1	135,184,856 (GRCm39)	missense	probably damaging	1.00
R7644:Elf3	UTSW	1	135,184,244 (GRCm39)	missense	possibly damaging	0.89
R7940:Elf3	UTSW	1	135,184,866 (GRCm39)	missense	probably damaging	1.00
R8315:Elf3	UTSW	1	135,184,314 (GRCm39)	missense	probably benign	0.00
R8723:Elf3	UTSW	1	135,185,385 (GRCm39)	missense	possibly damaging	0.95
R8724:Elf3	UTSW	1	135,182,098 (GRCm39)	missense	probably damaging	1.00
R8906:Elf3	UTSW	1	135,182,678 (GRCm39)	missense	probably damaging	1.00
R8960:Elf3	UTSW	1	135,182,813 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTCTACAGCAACACAGGG -3'
(R):5'- CAGGTGCTCTGGCCATAATTAC -3'

Sequencing Primer
(F):5'- ACATCCATGTTAAGGGGGCCATC -3'
(R):5'- GGTGCTCTGGCCATAATTACAGATC -3'

Posted On

2019-12-20