Mutagenetix > Incidental Mutation

Incidental Mutation 'R5768:Elf5'

446367

Institutional Source

Beutler Lab

Gene Symbol

Elf5

Ensembl Gene

ENSMUSG00000027186

Gene Name

E74-like factor 5

Synonyms

ESE-2

MMRRC Submission

043368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103242443-103281334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103279367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 196 (S196L)

Ref Sequence

ENSEMBL: ENSMUSP00000131940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028609] [ENSMUST00000028610] [ENSMUST00000126290] [ENSMUST00000164172] [ENSMUST00000171693]

AlphaFold

Q8VDK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028609
AA Change: S196L

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

SMART Domains

Protein: ENSMUSP00000028609
Gene: ENSMUSG00000027186
AA Change: S196L

Domain	Start	End	E-Value	Type
SAM_PNT	35	119	3.89e-39	SMART
ETS	160	246	4.96e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028610

SMART Domains

Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187

Domain	Start	End	E-Value	Type
Catalase	28	413	4.7e-285	SMART
Pfam:Catalase-rel	434	497	5.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123793

Predicted Effect

probably damaging
Transcript: ENSMUST00000126290
AA Change: S196L

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

SMART Domains

Protein: ENSMUSP00000118565
Gene: ENSMUSG00000027186
AA Change: S196L

Domain	Start	End	E-Value	Type
SAM_PNT	35	119	3.89e-39	SMART
ETS	160	199	4.45e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152055

Predicted Effect

probably damaging
Transcript: ENSMUST00000164172
AA Change: S196L

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

SMART Domains

Protein: ENSMUSP00000126941
Gene: ENSMUSG00000027186
AA Change: S196L

Domain	Start	End	E-Value	Type
SAM_PNT	35	119	3.89e-39	SMART
ETS	160	246	4.96e-49	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171693
AA Change: S196L

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

SMART Domains

Protein: ENSMUSP00000131940
Gene: ENSMUSG00000027186
AA Change: S196L

Domain	Start	End	E-Value	Type
SAM_PNT	35	119	3.89e-39	SMART
ETS	160	246	4.96e-49	SMART

Meta Mutation Damage Score

0.4558

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality. Embryos homozygous for one null allele failed to develop extraembryonic ectoderm, did not maintain trophoblast stem cells, and had abnormal or absent mesoderm. Mice heterozygous for another allele had impaired lactation and mammary gland development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,177,426 (GRCm39)	T561I	probably benign	Het
Akp3	T	C	1: 87,054,844 (GRCm39)	I393T	probably damaging	Het
Atxn10	A	T	15: 85,277,621 (GRCm39)	I363F	probably benign	Het
BC004004	A	T	17: 29,501,709 (GRCm39)	S83C	probably damaging	Het
Bin1	T	A	18: 32,559,264 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,674,641 (GRCm39)	I541T	probably damaging	Het
Cand1	A	G	10: 119,046,910 (GRCm39)	V860A	probably benign	Het
Ccdc69	T	C	11: 54,945,856 (GRCm39)	N50S	possibly damaging	Het
Cd209d	T	A	8: 3,921,968 (GRCm39)	T235S	probably benign	Het
Cdhr3	G	T	12: 33,096,685 (GRCm39)	T591K	possibly damaging	Het
Cherp	C	T	8: 73,216,957 (GRCm39)	D658N	probably damaging	Het
Clip4	T	A	17: 72,113,494 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,492,242 (GRCm39)	V195M	probably damaging	Het
Cst11	A	T	2: 148,612,387 (GRCm39)	Y83*	probably null	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Ddi2	A	T	4: 141,412,901 (GRCm39)	L4M	probably damaging	Het
Dip2b	C	A	15: 100,055,826 (GRCm39)	P393T	probably benign	Het
Dnmt3a	G	A	12: 3,935,660 (GRCm39)		probably null	Het
Eps15	C	G	4: 109,220,373 (GRCm39)		probably null	Het
Fra10ac1	T	C	19: 38,195,734 (GRCm39)	E163G	probably benign	Het
Gc	T	C	5: 89,589,125 (GRCm39)	T213A	probably damaging	Het
Grpel1	A	T	5: 36,622,503 (GRCm39)		probably benign	Het
Gsdme	G	A	6: 50,196,280 (GRCm39)	Q377*	probably null	Het
Hira	T	C	16: 18,753,768 (GRCm39)		probably benign	Het
Hsd11b1	T	A	1: 192,922,554 (GRCm39)	I168F	probably damaging	Het
Htr6	G	A	4: 138,789,015 (GRCm39)	R347W	probably damaging	Het
Ipp	A	C	4: 116,367,967 (GRCm39)	T67P	probably damaging	Het
Lrfn5	G	A	12: 61,886,509 (GRCm39)	R99Q	probably benign	Het
Madd	T	A	2: 90,998,174 (GRCm39)	I649F	probably damaging	Het
Map2k7	T	A	8: 4,295,757 (GRCm39)	D368E	probably benign	Het
Mppe1	T	G	18: 67,358,889 (GRCm39)	T360P	possibly damaging	Het
Msi2	A	G	11: 88,608,564 (GRCm39)	F2L	probably damaging	Het
Nectin3	T	C	16: 46,279,180 (GRCm39)	Q266R	probably damaging	Het
Nfasc	T	C	1: 132,532,883 (GRCm39)	H691R	probably benign	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or4c117	T	C	2: 88,955,793 (GRCm39)	E94G	probably benign	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Papss2	G	A	19: 32,638,119 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,172,736 (GRCm39)	K549E	probably benign	Het
Plekha6	A	G	1: 133,208,116 (GRCm39)	T596A	probably benign	Het
Polr2f	A	G	15: 79,035,845 (GRCm39)	D117G	probably damaging	Het
Psd	T	C	19: 46,301,178 (GRCm39)	E381G	possibly damaging	Het
Rfx6	G	A	10: 51,602,976 (GRCm39)	R831H	probably damaging	Het
Rpp25l	A	T	4: 41,712,649 (GRCm39)	L42Q	probably damaging	Het
Ryr3	T	C	2: 112,583,442 (GRCm39)	M2810V	probably benign	Het
Sdk1	C	A	5: 142,129,626 (GRCm39)	L1616I	probably benign	Het
Spock2	T	A	10: 59,962,029 (GRCm39)	F215I	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tchh	A	T	3: 93,353,488 (GRCm39)	E976V	unknown	Het
Tgfbr3	T	C	5: 107,297,761 (GRCm39)	E213G	probably benign	Het
Tmed1	T	C	9: 21,420,619 (GRCm39)	D71G	probably benign	Het
Tmtc4	T	A	14: 123,170,565 (GRCm39)	K527N	possibly damaging	Het
Zfhx2	T	C	14: 55,311,822 (GRCm39)	T291A	probably benign	Het

Other mutations in Elf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Elf5	APN	2	103,273,206 (GRCm39)	splice site	probably benign
IGL03162:Elf5	APN	2	103,260,751 (GRCm39)	missense	possibly damaging	0.56
R0329:Elf5	UTSW	2	103,260,765 (GRCm39)	splice site	probably benign
R4667:Elf5	UTSW	2	103,279,405 (GRCm39)	missense	probably damaging	1.00
R4906:Elf5	UTSW	2	103,279,918 (GRCm39)	nonsense	probably null
R6307:Elf5	UTSW	2	103,269,757 (GRCm39)	missense	probably damaging	1.00
R6418:Elf5	UTSW	2	103,269,697 (GRCm39)	missense	possibly damaging	0.92
R6526:Elf5	UTSW	2	103,269,578 (GRCm39)	missense	probably damaging	1.00
R6708:Elf5	UTSW	2	103,279,334 (GRCm39)	missense	probably damaging	0.97
R7199:Elf5	UTSW	2	103,269,641 (GRCm39)	missense	possibly damaging	0.70
R7263:Elf5	UTSW	2	103,269,645 (GRCm39)	missense	probably benign	0.25
R7646:Elf5	UTSW	2	103,269,588 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- CCCCAAAAGACAGTTCAAGTGG -3'
(R):5'- AATCCCATCTGAAACTAAGAAGAGG -3'

Sequencing Primer
(F):5'- ACAGTTCAAGTGGGGGCTCAC -3'
(R):5'- ACCCTTTCATATGAAGCGGG -3'

Posted On

2016-11-21