Mutagenetix > Incidental Mutation

Incidental Mutation 'R8960:Elf3'

682245

Institutional Source

Beutler Lab

Gene Symbol

Elf3

Ensembl Gene

ENSMUSG00000003051

Gene Name

E74-like factor 3

Synonyms

ESE-1, jen, ESX

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R8960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135181312-135186210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135182813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 304 (I304N)

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: I304N

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

SMART Domains

Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: I304N

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: I284N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: I284N

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: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (78/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	G	A	9: 44,186,063 (GRCm39)	Q603*	probably null	Het
Adar	A	G	3: 89,647,516 (GRCm39)	Y165C	probably damaging	Het
Afp	A	G	5: 90,651,500 (GRCm39)	T372A	probably benign	Het
Asah1	T	A	8: 41,800,061 (GRCm39)	L184F	probably damaging	Het
Bltp1	A	G	3: 37,067,132 (GRCm39)	E3548G	probably damaging	Het
Bpifb2	A	T	2: 153,731,046 (GRCm39)	I206F	possibly damaging	Het
Btn1a1	C	A	13: 23,648,741 (GRCm39)	D31Y	possibly damaging	Het
C4b	T	A	17: 34,952,892 (GRCm39)	D1110V	probably damaging	Het
Ccdc162	T	A	10: 41,429,178 (GRCm39)	D1901V	probably damaging	Het
Cd101	A	G	3: 100,910,817 (GRCm39)	V947A	probably benign	Het
Cd55b	A	T	1: 130,338,375 (GRCm39)	S238T	possibly damaging	Het
Cdc25c	T	C	18: 34,866,329 (GRCm39)	I437V	possibly damaging	Het
Cfap97	T	C	8: 46,623,605 (GRCm39)	S332P	probably damaging	Het
Chpf	A	G	1: 75,452,398 (GRCm39)	L352P	probably damaging	Het
Cntln	T	A	4: 85,018,961 (GRCm39)	M1217K	possibly damaging	Het
Cntrl	A	G	2: 35,052,053 (GRCm39)	E1629G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,396 (GRCm39)	Y206H	probably damaging	Het
Cyp2c55	T	A	19: 38,995,547 (GRCm39)	W20R	probably null	Het
Dhx35	A	T	2: 158,657,393 (GRCm39)	H130L	possibly damaging	Het
Dnm1	A	G	2: 32,202,741 (GRCm39)	V54A	probably damaging	Het
Eea1	T	A	10: 95,864,381 (GRCm39)	S967T	probably benign	Het
Efcab3	A	G	11: 104,820,772 (GRCm39)		probably benign	Het
Eps8l1	G	T	7: 4,481,214 (GRCm39)	R672L	probably damaging	Het
Fam163a	A	T	1: 155,954,862 (GRCm39)	C96*	probably null	Het
Fancd2	T	C	6: 113,540,129 (GRCm39)		probably null	Het
Fbxo3	C	T	2: 103,858,274 (GRCm39)	L23F	possibly damaging	Het
Fbxw14	A	G	9: 109,114,367 (GRCm39)	V121A	possibly damaging	Het
Fgd6	T	A	10: 93,880,868 (GRCm39)	V574D	probably benign	Het
Gask1b	T	C	3: 79,794,293 (GRCm39)	S254P	probably benign	Het
Gbp11	A	G	5: 105,479,251 (GRCm39)	F124S	probably damaging	Het
Grin1	A	T	2: 25,195,428 (GRCm39)		probably benign	Het
Grm2	T	G	9: 106,531,345 (GRCm39)	E48A	probably benign	Het
H2-M10.5	T	A	17: 37,084,770 (GRCm39)	Y165N	probably benign	Het
Hoxa13	A	C	6: 52,236,976 (GRCm39)	S172A	probably benign	Het
Ifih1	T	A	2: 62,442,235 (GRCm39)	K376N	possibly damaging	Het
Insrr	C	A	3: 87,720,386 (GRCm39)	T1008K	probably damaging	Het
Itih1	A	G	14: 30,655,414 (GRCm39)	S594P	probably damaging	Het
Kidins220	T	C	12: 25,106,914 (GRCm39)	S1365P	probably benign	Het
Malrd1	A	T	2: 15,570,241 (GRCm39)	K158*	probably null	Het
Man2c1	G	A	9: 57,045,279 (GRCm39)	G504R	probably damaging	Het
Mbd1	T	C	18: 74,406,890 (GRCm39)		probably null	Het
Micall2	G	A	5: 139,702,025 (GRCm39)	A323V	probably benign	Het
Mroh9	A	C	1: 162,883,196 (GRCm39)	F428V	probably benign	Het
Myo7b	T	A	18: 32,127,299 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,591,463 (GRCm39)	H535L	possibly damaging	Het
Obscn	A	T	11: 58,922,438 (GRCm39)	V6567E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,230 (GRCm39)	S207A	unknown	Het
Or1e33	A	T	11: 73,738,167 (GRCm39)	C261*	probably null	Het
Or2g25	T	A	17: 37,970,760 (GRCm39)	T155S	probably benign	Het
Or2y1d	A	T	11: 49,321,543 (GRCm39)	Q80L	probably benign	Het
Or5h25	T	A	16: 58,930,555 (GRCm39)	R139S	probably benign	Het
Or8b53	A	T	9: 38,667,385 (GRCm39)	I134F	possibly damaging	Het
Pde4dip	T	C	3: 97,700,464 (GRCm39)	D238G	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pgbd5	T	A	8: 125,111,175 (GRCm39)	Y172F	probably benign	Het
Pkd1	A	G	17: 24,795,176 (GRCm39)	T2288A	probably damaging	Het
Ppp6r2	T	A	15: 89,137,239 (GRCm39)	M1K	probably null	Het
Rc3h1	A	G	1: 160,774,164 (GRCm39)	T344A	probably damaging	Het
Rgs5	T	C	1: 169,504,461 (GRCm39)	V37A	possibly damaging	Het
Rgs9	A	G	11: 109,139,815 (GRCm39)	S17P	possibly damaging	Het
Rusc1	T	A	3: 88,991,865 (GRCm39)	D407V	probably damaging	Het
Rwdd1	T	A	10: 33,895,383 (GRCm39)	I18F	possibly damaging	Het
Satb2	C	T	1: 56,910,470 (GRCm39)		probably null	Het
Sds	A	G	5: 120,621,659 (GRCm39)	E267G	probably damaging	Het
Sema4b	T	A	7: 79,875,076 (GRCm39)	V822E	probably damaging	Het
Sfxn5	A	T	6: 85,266,176 (GRCm39)	M107K	probably damaging	Het
Slc5a8	C	T	10: 88,722,035 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Syt14	A	C	1: 192,666,515 (GRCm39)		probably benign	Het
Vmn2r124	T	G	17: 18,283,291 (GRCm39)	Y328*	probably null	Het
Vmn2r86	T	A	10: 130,289,672 (GRCm39)	E74D	probably benign	Het
Vmo1	A	C	11: 70,404,476 (GRCm39)	L175W	probably damaging	Het
Vps13a	G	T	19: 16,683,247 (GRCm39)	L982I	possibly damaging	Het
Wdr19	T	C	5: 65,398,211 (GRCm39)	V812A	probably benign	Het
Wdr27	T	C	17: 15,103,908 (GRCm39)	I733V	probably benign	Het
Wdr54	A	T	6: 83,132,739 (GRCm39)	H38Q	probably damaging	Het
Wdr76	G	A	2: 121,341,104 (GRCm39)	V50I	probably damaging	Het
Zfp930	T	A	8: 69,680,541 (GRCm39)	N59K	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly 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
R7855:Elf3	UTSW	1	135,182,090 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CAGGCCTGTCTTGTGAAACC -3'
(R):5'- AGCCACTATAGCAATCACTAAGAGG -3'

Sequencing Primer
(F):5'- CTGTCTTGTGAAACCTAGCGGAAG -3'
(R):5'- GGACATTTCATATACTCCCATATGC -3'

Posted On

2021-08-31