Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Elf3'

353916

Institutional Source

Beutler Lab

Gene Symbol

Elf3

Ensembl Gene

ENSMUSG00000003051

Gene Name

E74-like factor 3

Synonyms

ESX, jen, ESE-1

MMRRC Submission

041982-MU

Accession Numbers

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

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135253575-135258568 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135257752 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 8 (S8N)

Ref Sequence

ENSEMBL: ENSMUSP00000139769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003135] [ENSMUST00000074357] [ENSMUST00000077340] [ENSMUST00000185752]

AlphaFold

Q3UPW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000003135
AA Change: S8N

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

SMART Domains

Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: S8N

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 benign
Transcript: ENSMUST00000074357

SMART Domains

Protein: ENSMUSP00000073962
Gene: ENSMUSG00000041926

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:Peptidase_M1	31	246	2.5e-33	PFAM
Pfam:Peptidase_M1	243	378	3.1e-36	PFAM
Pfam:Peptidase_MA_2	257	402	4.5e-21	PFAM
Leuk-A4-hydro_C	461	606	1.4e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077340

SMART Domains

Protein: ENSMUSP00000076564
Gene: ENSMUSG00000041926

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:Peptidase_M1	31	417	2.2e-84	PFAM
Leuk-A4-hydro_C	500	645	1.4e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180981

Predicted Effect

probably damaging
Transcript: ENSMUST00000185752
AA Change: S8N

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

SMART Domains

Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: S8N

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

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,816,882	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,398,876	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,774,653	R179*	probably null	Het
Arap2	G	T	5: 62,749,094	T194K	probably benign	Het
Atf2	C	A	2: 73,823,300	V282F	probably damaging	Het
Atp1a1	T	C	3: 101,591,806	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,877,179	S258G	possibly damaging	Het
Bptf	G	T	11: 107,047,181	H2695N	probably damaging	Het
Casq2	T	C	3: 102,110,244	V80A	probably benign	Het
Ccdc130	A	G	8: 84,263,874	I43T	probably damaging	Het
Cdc42ep3	G	A	17: 79,335,458	A11V	probably benign	Het
Cdh4	A	T	2: 179,780,467	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,361,835	*191L	probably null	Het
Cfdp1	G	A	8: 111,830,891	T206I	probably benign	Het
Cgn	C	A	3: 94,779,438	G185W	probably damaging	Het
Clpx	A	C	9: 65,312,114	R231S	possibly damaging	Het
Copg1	T	A	6: 87,912,286	L870*	probably null	Het
Cyp4a10	A	T	4: 115,525,338	D275V	probably benign	Het
Dip2a	T	C	10: 76,296,406	T504A	probably benign	Het
Dmxl2	A	C	9: 54,446,405		probably null	Het
Dnaaf5	A	T	5: 139,178,000	I671F	probably damaging	Het
Dnah14	A	G	1: 181,757,223	D3173G	probably damaging	Het
Dock2	T	C	11: 34,294,118	Y1074C	probably damaging	Het
Dthd1	A	C	5: 62,888,187	M765L	probably benign	Het
E2f3	A	C	13: 29,911,275	C220W	probably damaging	Het
F2rl1	A	T	13: 95,513,267	V369E	probably damaging	Het
Fam214a	T	A	9: 75,012,968	W799R	probably damaging	Het
Fpr-rs7	C	T	17: 20,113,428	G267R	probably benign	Het
Ggact	A	T	14: 122,891,635	L56Q	possibly damaging	Het
Gm10698	A	T	9: 33,728,488		noncoding transcript	Het
Gm5546	T	C	3: 104,366,508		noncoding transcript	Het
Gm8267	A	G	14: 44,717,835	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,815,412	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,423,017	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,770,844	L146P	probably damaging	Het
Htr1b	T	C	9: 81,631,510	D348G	possibly damaging	Het
Ifi205	T	C	1: 174,028,321	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,992,591	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,706,253	L169P	probably damaging	Het
Klf17	T	C	4: 117,760,536	D208G	probably benign	Het
Ltn1	A	G	16: 87,418,494	F418L	probably damaging	Het
Map4k4	G	A	1: 40,019,564	V1040I	probably damaging	Het
Mark1	A	G	1: 184,912,132	V445A	probably benign	Het
Med11	T	C	11: 70,453,196	I114T	probably benign	Het
Moxd2	A	G	6: 40,887,247	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,616,358		probably benign	Het
Mrps27	A	G	13: 99,414,815		probably null	Het
Nop58	T	C	1: 59,696,026	V75A	probably benign	Het
Olfr1290	A	C	2: 111,489,744	M138R	probably benign	Het
Olfr1339	T	C	4: 118,734,655	L42P	probably damaging	Het
Olfr136	A	C	17: 38,335,840	I228L	possibly damaging	Het
Olfr325	A	G	11: 58,581,429	D195G	probably damaging	Het
Olfr832	A	G	9: 18,945,446	H266R	probably benign	Het
Olfr844	C	A	9: 19,319,147	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,516	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,126,061		probably benign	Het
Prkd3	G	T	17: 78,951,937	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,107,333	T543A	probably benign	Het
Pum2	T	A	12: 8,747,272	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,693,458	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,794,039	L193P	probably damaging	Het
Rif1	T	C	2: 52,073,139		probably benign	Het
Rspo2	A	T	15: 43,075,904	C163*	probably null	Het
Sco1	A	G	11: 67,056,599	Y204C	probably damaging	Het
Shc2	T	C	10: 79,622,379	K490R	probably benign	Het
Siglec1	T	C	2: 131,074,436	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,786,090	V31A	probably damaging	Het
Smpd5	A	T	15: 76,295,693	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198		probably null	Het
Tdrd9	T	G	12: 112,041,689	S988A	probably benign	Het
Tiam2	T	A	17: 3,454,168	F982I	probably damaging	Het
Tmc3	G	A	7: 83,622,396	V919I	probably benign	Het
Tmem200c	A	T	17: 68,840,470	D16V	probably damaging	Het
Tmem37	A	T	1: 120,068,205	D47E	probably damaging	Het
Top3a	T	A	11: 60,742,997	R733*	probably null	Het
Treh	T	C	9: 44,683,318	V8A	probably benign	Het
Trim17	A	C	11: 58,968,450		probably benign	Het
Ubash3b	T	C	9: 41,016,600	K471E	probably damaging	Het
Usp8	T	A	2: 126,729,222	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,147,232	M1L	unknown	Het

Other mutations in Elf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Elf3	APN	1	135,257,707 (GRCm38)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGATCATTGGTGTCCTGTC -3'
(R):5'- GAATTTCCCAGTTTGGCGC -3'

Sequencing Primer
(F):5'- AGATCATTGGTGTCCTGTCTGTAAAG -3'
(R):5'- TGACCCTTCTAGGCTCAAGAGAG -3'

Posted On

2015-10-21