Mutagenetix > Incidental Mutation

Incidental Mutation 'R8723:Elf3'

662205

Institutional Source

Beutler Lab

Gene Symbol

Elf3

Ensembl Gene

ENSMUSG00000003051

Gene Name

E74-like factor 3

Synonyms

ESE-1, jen, ESX

MMRRC Submission

068615-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R8723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135181312-135186210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135185385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 43 (L43P)

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

possibly damaging
Transcript: ENSMUST00000003135
AA Change: L43P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: L43P

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: L43P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: L43P

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

Meta Mutation Damage Score

0.3763

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,360,897 (GRCm39)	H465Q	probably benign	Het
Adam29	T	C	8: 56,324,513 (GRCm39)	H647R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Adgrg7	T	G	16: 56,582,282 (GRCm39)	R285S	probably benign	Het
Alkbh1	A	G	12: 87,485,278 (GRCm39)	V115A	probably benign	Het
Ankrd50	A	C	3: 38,511,453 (GRCm39)	F305V	probably damaging	Het
Anpep	A	G	7: 79,488,686 (GRCm39)	S414P	probably damaging	Het
Anxa3	A	G	5: 96,986,206 (GRCm39)	I282V	probably benign	Het
Aoah	T	G	13: 21,184,180 (GRCm39)	Y415D	possibly damaging	Het
Cacna1b	A	G	2: 24,548,510 (GRCm39)	V1188A	probably damaging	Het
Cnot1	A	G	8: 96,462,907 (GRCm39)	I1651T	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Ctnnd1	G	A	2: 84,450,384 (GRCm39)	P279S	probably benign	Het
Dnah10	A	T	5: 124,891,685 (GRCm39)	E3298V	probably damaging	Het
Ear14	C	T	14: 51,441,513 (GRCm39)	T123I	possibly damaging	Het
Exoc3l4	T	A	12: 111,397,092 (GRCm39)		probably benign	Het
Figla	A	G	6: 85,997,724 (GRCm39)	T151A	probably benign	Het
Fsd1l	A	G	4: 53,647,001 (GRCm39)	E56G	unknown	Het
Gm49359	A	T	13: 62,602,410 (GRCm39)	H263Q	probably damaging	Het
Gprc6a	A	T	10: 51,491,518 (GRCm39)	C744S	probably damaging	Het
Grhl1	G	A	12: 24,662,244 (GRCm39)		probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Itih3	T	A	14: 30,630,761 (GRCm39)	Q850L	probably damaging	Het
Kcnq5	A	G	1: 21,575,591 (GRCm39)	V285A	probably damaging	Het
Klc4	T	G	17: 46,951,626 (GRCm39)	E165A	probably benign	Het
Lrp2	T	C	2: 69,316,648 (GRCm39)	Y2111C	probably damaging	Het
Lyst	A	G	13: 13,887,342 (GRCm39)	E3057G	possibly damaging	Het
Macf1	G	A	4: 123,348,910 (GRCm39)	Q4006*	probably null	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Ms4a20	A	G	19: 11,083,055 (GRCm39)	Y122H	probably damaging	Het
Myh14	A	G	7: 44,272,407 (GRCm39)	F1466S	probably damaging	Het
Nrip1	T	C	16: 76,089,553 (GRCm39)	D668G	probably damaging	Het
Or5w17	T	C	2: 87,583,501 (GRCm39)	T279A	possibly damaging	Het
Or8k3	A	T	2: 86,058,786 (GRCm39)	H176Q	probably damaging	Het
P2rx1	C	A	11: 72,899,756 (GRCm39)	N120K	probably benign	Het
Pif1	T	A	9: 65,501,673 (GRCm39)	M569K	probably damaging	Het
Prkd2	G	A	7: 16,591,702 (GRCm39)	V578I	possibly damaging	Het
Rhobtb1	A	G	10: 69,106,101 (GRCm39)	Y284C	probably damaging	Het
Rps6kb1	T	C	11: 86,410,757 (GRCm39)	T164A	possibly damaging	Het
Rxfp1	T	C	3: 79,557,802 (GRCm39)	T559A	probably benign	Het
Sag	G	A	1: 87,751,175 (GRCm39)		probably null	Het
Smoc1	G	A	12: 81,182,586 (GRCm39)	V138I	possibly damaging	Het
Spag5	T	A	11: 78,212,215 (GRCm39)	I1081N	probably damaging	Het
Stk25	A	G	1: 93,553,666 (GRCm39)	I203T	probably damaging	Het
Strip2	T	A	6: 29,941,863 (GRCm39)	V611E	probably damaging	Het
Sulf1	A	T	1: 12,856,911 (GRCm39)	D54V	probably damaging	Het
Tacr2	A	G	10: 62,094,107 (GRCm39)	D188G	probably damaging	Het
Tmem237	A	T	1: 59,145,731 (GRCm39)	Y358N	probably damaging	Het
Trim27	A	C	13: 21,374,807 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,698,149 (GRCm39)	E139G	probably benign	Het
Ttc39a	T	A	4: 109,300,700 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,671,899 (GRCm39)	I781N	probably damaging	Het
Uqcc1	C	T	2: 155,729,100 (GRCm39)	W21*	probably null	Het
Vmn2r117	A	T	17: 23,696,343 (GRCm39)	W355R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,910 (GRCm39)	V420A	probably benign	Het
Zdhhc21	A	T	4: 82,762,439 (GRCm39)	I52K	probably benign	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
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'- GGACTAGGAACACAGTCTAGC -3'
(R):5'- TGGAAGTGTACCCTGACCTG -3'

Sequencing Primer
(F):5'- GGTTCTTTCCCCAGTACTACACAAAC -3'
(R):5'- GAAGTGTACCCTGACCTGTACCC -3'

Posted On

2021-03-08