Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Etv6'

37678

Institutional Source

Beutler Lab

Gene Symbol

Etv6

Ensembl Gene

ENSMUSG00000030199

Gene Name

ets variant 6

Synonyms

translocation-ets-leukemia, Tel

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134012663-134247121 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134243238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 331 (D331G)

Ref Sequence

ENSEMBL: ENSMUSP00000107594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081028] [ENSMUST00000111963]

AlphaFold

P97360

Predicted Effect

probably benign
Transcript: ENSMUST00000081028
AA Change: D420G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000079818
Gene: ENSMUSG00000030199
AA Change: D420G

Domain	Start	End	E-Value	Type
SAM_PNT	39	125	3.49e-41	SMART
ETS	334	420	7.02e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111963
AA Change: D331G

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107594
Gene: ENSMUSG00000030199
AA Change: D331G

Domain	Start	End	E-Value	Type
Pfam:SAM_PNT	1	36	1.3e-10	PFAM
ETS	245	331	7.02e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169529

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: This gene encodes a transcriptional repressor belonging to the ETS family of proteins. Knockout of this gene in mice results in embryonic lethality due to defective angiogenesis. In humans, this gene is often involved in chromosome rearrangements associated with specific cancers. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. [provided by MGI curators]

Allele List at MGI

All alleles(134) : Targeted(7) Gene trapped(127)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,837 (GRCm39)	D337G	probably damaging	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,321,655 (GRCm39)	K586N	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Cstpp1	A	T	2: 91,112,939 (GRCm39)	I173N	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,009,760 (GRCm39)	E296A	probably benign	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or4k36	T	A	2: 111,146,499 (GRCm39)	V225D	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Uba3	A	T	6: 97,168,544 (GRCm39)	H160Q	possibly damaging	Het
Usp32	A	G	11: 84,944,518 (GRCm39)	S316P	probably damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	probably damaging	Het

Other mutations in Etv6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Etv6	APN	6	134,225,350 (GRCm39)	missense	probably benign	0.41
IGL02028:Etv6	APN	6	134,225,696 (GRCm39)	missense	probably benign	0.01
IGL02173:Etv6	APN	6	134,225,690 (GRCm39)	missense	possibly damaging	0.68
IGL03074:Etv6	APN	6	134,199,888 (GRCm39)	missense	probably damaging	0.98
R0056:Etv6	UTSW	6	134,225,497 (GRCm39)	nonsense	probably null
R2133:Etv6	UTSW	6	134,225,717 (GRCm39)	missense	possibly damaging	0.92
R3763:Etv6	UTSW	6	134,239,975 (GRCm39)	splice site	probably benign
R4405:Etv6	UTSW	6	134,210,497 (GRCm39)	missense	probably damaging	1.00
R6901:Etv6	UTSW	6	134,243,421 (GRCm39)	missense	probably benign	0.10
R8292:Etv6	UTSW	6	134,225,509 (GRCm39)	missense	probably benign
R8343:Etv6	UTSW	6	134,225,717 (GRCm39)	missense	possibly damaging	0.92
R8752:Etv6	UTSW	6	134,243,391 (GRCm39)	missense	probably benign	0.01
R9562:Etv6	UTSW	6	134,225,672 (GRCm39)	missense	probably benign	0.28
R9565:Etv6	UTSW	6	134,225,672 (GRCm39)	missense	probably benign	0.28
R9616:Etv6	UTSW	6	134,243,295 (GRCm39)	missense	possibly damaging	0.47
R9680:Etv6	UTSW	6	134,013,062 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACGAAGTCAGCTCTGTCAGCTC -3'
(R):5'- AGGAGAAGTGTCCCTGCTATTCCC -3'

Sequencing Primer
(F):5'- gtgtaagtgtgggacccaag -3'
(R):5'- GGGTCTCTTCCTTTACAGCCAC -3'

Posted On

2013-05-23