Mutagenetix > Incidental Mutation

Incidental Mutation 'R5423:Etv5'

426727

Institutional Source

Beutler Lab

Gene Symbol

Etv5

Ensembl Gene

ENSMUSG00000013089

Gene Name

ets variant 5

Synonyms

1110005E01Rik, 8430401F14Rik, erm

MMRRC Submission

042989-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22200063-22258320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22202404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 468 (D468G)

Ref Sequence

ENSEMBL: ENSMUSP00000131791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079601] [ENSMUST00000168774]

AlphaFold

Q9CXC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000079601
AA Change: D450G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078551
Gene: ENSMUSG00000013089
AA Change: D450G

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	366	6.4e-150	PFAM
ETS	367	452	1.14e-57	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168774
AA Change: D468G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131791
Gene: ENSMUSG00000013089
AA Change: D468G

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	384	1.3e-147	PFAM
ETS	385	470	1.14e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170803

SMART Domains

Protein: ENSMUSP00000128338
Gene: ENSMUSG00000013089

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	1	85	9.3e-29	PFAM

Meta Mutation Damage Score

0.5062

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

MGI Phenotype

PHENOTYPE: Homozygous null mice display either male infertility, small testes, azoospermia, and failure to maintain spermatogonia or they are prenatally lethal. Preaxial polydactyly has also been observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Ak4	T	G	4: 101,317,760 (GRCm39)	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Ckap2	A	C	8: 22,667,212 (GRCm39)	S216R	probably benign	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Fbxo44	T	A	4: 148,238,686 (GRCm39)	I213F	probably benign	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Lrrtm3	T	C	10: 63,923,931 (GRCm39)	D412G	possibly damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Shox2	A	G	3: 66,881,087 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,360,597 (GRCm39)	V248M	probably damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Uggt2	G	A	14: 119,256,898 (GRCm39)	T1112I	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	Het

Other mutations in Etv5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0363:Etv5	UTSW	16	22,230,458 (GRCm39)	missense	probably benign	0.00
R0488:Etv5	UTSW	16	22,231,695 (GRCm39)	missense	probably damaging	1.00
R0533:Etv5	UTSW	16	22,254,825 (GRCm39)	splice site	probably benign
R1628:Etv5	UTSW	16	22,220,421 (GRCm39)	critical splice donor site	probably null
R1640:Etv5	UTSW	16	22,254,664 (GRCm39)	missense	probably damaging	1.00
R3724:Etv5	UTSW	16	22,254,662 (GRCm39)	missense	probably damaging	1.00
R6581:Etv5	UTSW	16	22,258,449 (GRCm39)	unclassified	probably benign
R7310:Etv5	UTSW	16	22,220,487 (GRCm39)	missense	probably benign	0.35
R7442:Etv5	UTSW	16	22,254,809 (GRCm39)	missense	probably damaging	1.00
R7709:Etv5	UTSW	16	22,231,597 (GRCm39)	nonsense	probably null
R9336:Etv5	UTSW	16	22,254,627 (GRCm39)	missense	probably benign	0.00
R9400:Etv5	UTSW	16	22,220,476 (GRCm39)	missense	probably benign	0.11
R9427:Etv5	UTSW	16	22,218,112 (GRCm39)	missense	probably damaging	0.99
R9433:Etv5	UTSW	16	22,254,668 (GRCm39)	missense	probably damaging	1.00
Z1088:Etv5	UTSW	16	22,202,339 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GCTACTCGGCCATTCAGAAAC -3'
(R):5'- AAGATGCGATTGGAATAATCAGCTG -3'

Sequencing Primer
(F):5'- CTCGGCCATTCAGAAACTTAGTAAG -3'
(R):5'- GATTGGAATAATCAGCTGCTACTTAG -3'

Posted On

2016-09-01