Mutagenetix > Incidental Mutation

Incidental Mutation 'R9427:Etv5'

712698

Institutional Source

Beutler Lab

Gene Symbol

Etv5

Ensembl Gene

ENSMUSG00000013089

Gene Name

ets variant 5

Synonyms

1110005E01Rik, 8430401F14Rik, erm

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R9427 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22200063-22258320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 22218112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 328 (S328A)

Ref Sequence

ENSEMBL: ENSMUSP00000131791 (fasta)

Gene Model

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

AlphaFold

Q9CXC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079601
AA Change: S310A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078551
Gene: ENSMUSG00000013089
AA Change: S310A

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: S328A

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

SMART Domains

Protein: ENSMUSP00000131791
Gene: ENSMUSG00000013089
AA Change: S328A

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

SMART Domains

Protein: ENSMUSP00000128338
Gene: ENSMUSG00000013089
AA Change: S59A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	C	2: 103,531,244 (GRCm39)	L458P	probably damaging	Het
Adgrl2	T	C	3: 148,526,068 (GRCm39)	N130S		Het
Adgrv1	T	C	13: 81,732,234 (GRCm39)	S161G	probably benign	Het
Aldh1l1	A	G	6: 90,536,903 (GRCm39)	D153G	probably benign	Het
Arhgap20	G	A	9: 51,754,991 (GRCm39)	S444N	probably damaging	Het
Bpifc	A	G	10: 85,812,129 (GRCm39)	F360L	probably benign	Het
Cacna1s	A	T	1: 136,012,090 (GRCm39)	I511F	probably benign	Het
Chdh	G	A	14: 29,758,806 (GRCm39)	V584I	probably benign	Het
Col12a1	T	C	9: 79,589,445 (GRCm39)	R1037G	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,816,992 (GRCm39)	N440D	unknown	Het
Dsel	A	T	1: 111,787,425 (GRCm39)	Y1037N	probably damaging	Het
Eloa	A	G	4: 135,748,935 (GRCm39)	M1T	probably null	Het
Elp2	C	G	18: 24,755,560 (GRCm39)	P436A	probably damaging	Het
Fat3	A	T	9: 16,288,691 (GRCm39)	Y277*	probably null	Het
Fbxo38	A	T	18: 62,644,160 (GRCm39)	H899Q	probably benign	Het
Fstl5	T	C	3: 76,229,583 (GRCm39)	V128A		Het
Gm3371	T	C	14: 44,641,066 (GRCm39)	E166G		Het
Herc6	T	C	6: 57,636,722 (GRCm39)	S813P	probably damaging	Het
Ifnlr1	G	A	4: 135,426,142 (GRCm39)	G75D	probably damaging	Het
Kbtbd2	A	T	6: 56,756,132 (GRCm39)	C535S	probably damaging	Het
Lgr5	A	C	10: 115,288,913 (GRCm39)	L577W	probably damaging	Het
Limk1	A	T	5: 134,686,358 (GRCm39)	D590E	probably benign	Het
Lnpep	A	T	17: 17,795,609 (GRCm39)	S301T	probably benign	Het
Lrch1	A	C	14: 75,032,787 (GRCm39)	V521G	probably benign	Het
Lrrc71	T	C	3: 87,650,368 (GRCm39)	H235R	probably benign	Het
Mttp	A	G	3: 137,820,962 (GRCm39)	S282P	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or2t1	G	A	14: 14,328,456 (GRCm38)	G115D	probably damaging	Het
Or55b10	T	A	7: 102,143,206 (GRCm39)	T259S	probably benign	Het
Or5a3	T	C	19: 12,399,889 (GRCm39)	V72A		Het
Or5m13	T	C	2: 85,748,704 (GRCm39)	V145A	probably benign	Het
Or7a41	C	T	10: 78,871,395 (GRCm39)	T255I	probably damaging	Het
Or7c70	A	G	10: 78,682,906 (GRCm39)	V281A	probably damaging	Het
Pira12	T	G	7: 3,897,284 (GRCm39)		probably null	Het
Ppfia3	T	C	7: 45,008,213 (GRCm39)	Q219R	possibly damaging	Het
Prdm5	T	A	6: 65,771,321 (GRCm39)	M44K	possibly damaging	Het
Psmc5	T	C	11: 106,153,303 (GRCm39)	I315T	probably damaging	Het
Ptprd	T	A	4: 76,051,440 (GRCm39)	E27V	probably benign	Het
Rft1	T	A	14: 30,411,781 (GRCm39)	I443N	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Slco1a5	A	G	6: 142,214,001 (GRCm39)	M40T	probably damaging	Het
Svep1	T	C	4: 58,069,804 (GRCm39)	T2661A	possibly damaging	Het
Tigit	T	C	16: 43,482,515 (GRCm39)	D73G	probably benign	Het
Tmem237	G	A	1: 59,159,213 (GRCm39)		probably benign	Het
Trim42	T	C	9: 97,247,874 (GRCm39)	D274G	probably damaging	Het
Trmt61a	C	A	12: 111,647,490 (GRCm39)	L196I	probably damaging	Het
Tspan8	T	C	10: 115,669,213 (GRCm39)	C83R	probably damaging	Het
Ttc7	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTG	17: 87,678,147 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	G	A	1: 66,594,158 (GRCm39)	G1179E	probably damaging	Het
Vmn2r2	A	G	3: 64,041,945 (GRCm39)	S257P	probably damaging	Het
Xpo6	G	T	7: 125,748,418 (GRCm39)	Y404*	probably null	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
R5423:Etv5	UTSW	16	22,202,404 (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
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'- GCTCAGCTTAGAAATGGTAATCC -3'
(R):5'- TCCATTTCCACAGACCAAGG -3'

Sequencing Primer
(F):5'- TGGTAATCCTCAATTAAACGTGTG -3'
(R):5'- CAGCCCTTACAGTGATTAGTCAG -3'

Posted On

2022-05-16