Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Endov'

228876

Institutional Source

Beutler Lab

Gene Symbol

Endov

Ensembl Gene

ENSMUSG00000039850

Gene Name

endonuclease V

Synonyms

A730011L01Rik

MMRRC Submission

040068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119382173-119402263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119390408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 12 (F12S)

Ref Sequence

ENSEMBL: ENSMUSP00000119599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064513] [ENSMUST00000106244] [ENSMUST00000106245] [ENSMUST00000129327] [ENSMUST00000153204] [ENSMUST00000154370] [ENSMUST00000143817]

AlphaFold

Q8C9A2

Predicted Effect

probably damaging
Transcript: ENSMUST00000064513
AA Change: F12S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068849
Gene: ENSMUSG00000039850
AA Change: F12S

Domain	Start	End	E-Value	Type
Pfam:Endonuclease_5	1	160	5.7e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106244
AA Change: F95S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101851
Gene: ENSMUSG00000039850
AA Change: F95S

Domain	Start	End	E-Value	Type
Pfam:Endonuclease_5	22	241	2.8e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106245
AA Change: F12S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132755
Gene: ENSMUSG00000039850
AA Change: F12S

Domain	Start	End	E-Value	Type
Pfam:Endonuclease_5	1	160	3.3e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129327
AA Change: F12S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119599
Gene: ENSMUSG00000039850
AA Change: F12S

Domain	Start	End	E-Value	Type
Pfam:Endonuclease_5	1	160	3.3e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134873

Predicted Effect

probably benign
Transcript: ENSMUST00000140323

SMART Domains

Protein: ENSMUSP00000118226
Gene: ENSMUSG00000039850

Domain	Start	End	E-Value	Type
Pfam:Endonuclease_5	15	71	9e-9	PFAM
Pfam:Endonuclease_5	69	189	3.1e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153204
AA Change: F12S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128455
Gene: ENSMUSG00000039850
AA Change: F12S

Domain	Start	End	E-Value	Type
Pfam:Endonuclease_5	1	43	1.4e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154370
AA Change: F12S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132873
Gene: ENSMUSG00000039850
AA Change: F12S

Domain	Start	End	E-Value	Type
Pfam:Endonuclease_5	1	43	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143817

SMART Domains

Protein: ENSMUSP00000131108
Gene: ENSMUSG00000039850

Domain	Start	End	E-Value	Type
low complexity region	66	77	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143670

Meta Mutation Damage Score

0.9020

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca15	A	T	7: 119,960,127 (GRCm39)	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,709,588 (GRCm39)	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI467606	A	G	7: 126,692,009 (GRCm39)	S195G	probably damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cic	T	A	7: 24,972,876 (GRCm39)	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,949,722 (GRCm39)	D118G	probably damaging	Het
Csnk1g1	A	G	9: 65,909,512 (GRCm39)	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,775,224 (GRCm39)	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,290,700 (GRCm39)	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,551,132 (GRCm39)	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Elavl2	A	T	4: 91,141,687 (GRCm39)	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,581,950 (GRCm39)	S259G	probably benign	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Fbxo21	T	C	5: 118,115,031 (GRCm39)	S56P	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Foxj2	A	T	6: 122,817,200 (GRCm39)	H509L	probably benign	Het
Fth1	T	A	19: 9,961,576 (GRCm39)	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,476,450 (GRCm39)	E220*	probably null	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm1527	C	A	3: 28,980,796 (GRCm39)	T632N	probably benign	Het
Gm4787	A	T	12: 81,425,694 (GRCm39)	S155T	probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Helb	T	C	10: 119,941,671 (GRCm39)	Y339C	probably benign	Het
Hs3st4	A	G	7: 123,996,236 (GRCm39)	I301V	probably benign	Het
Hunk	A	G	16: 90,290,368 (GRCm39)	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il10	T	C	1: 130,947,770 (GRCm39)	L41P	probably damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt90	T	C	15: 101,466,794 (GRCm39)	E263G	probably benign	Het
Lama2	C	T	10: 27,040,922 (GRCm39)	C1467Y	probably damaging	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Med24	A	G	11: 98,606,472 (GRCm39)	L330P	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mtcl1	T	C	17: 66,653,350 (GRCm39)	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,217,322 (GRCm39)	G38D	probably damaging	Het
Mtus1	T	C	8: 41,535,745 (GRCm39)	E657G	probably damaging	Het
Muc21	T	A	17: 35,932,297 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,189,150 (GRCm39)	Q1020L	probably benign	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,400,494 (GRCm39)	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,051,912 (GRCm39)	N1012D	probably benign	Het
Ntrk2	A	C	13: 59,007,111 (GRCm39)	K238Q	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or52n2b	T	C	7: 104,565,982 (GRCm39)	N174D	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pfpl	C	T	19: 12,407,237 (GRCm39)	S496L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,414,148 (GRCm39)	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,716,427 (GRCm39)	N678S	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Polr1a	T	G	6: 71,913,269 (GRCm39)		probably null	Het
Prl3d3	A	C	13: 27,346,304 (GRCm39)	E180D	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,751,551 (GRCm39)	D383E	probably benign	Het
Psmc4	A	T	7: 27,748,322 (GRCm39)	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Rasl12	G	A	9: 65,318,106 (GRCm39)	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098 (GRCm39)	V83G	probably damaging	Het
Rnls	A	C	19: 33,179,944 (GRCm39)	S51A	probably benign	Het
Siglecf	A	G	7: 43,001,804 (GRCm39)	T205A	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc12a5	C	T	2: 164,839,067 (GRCm39)	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Specc1	T	G	11: 62,009,122 (GRCm39)	S293A	probably benign	Het
Speer2	T	G	16: 69,657,385 (GRCm39)	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,065,078 (GRCm39)	D169G	probably benign	Het
Tbx20	C	A	9: 24,681,067 (GRCm39)	E142*	probably null	Het
Tcp1	T	A	17: 13,139,699 (GRCm39)	L199H	probably damaging	Het
Tex26	A	T	5: 149,363,204 (GRCm39)	R5W	probably damaging	Het
Tg	C	A	15: 66,700,402 (GRCm39)	A120E	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Vps54	C	T	11: 21,227,955 (GRCm39)	T176I	probably damaging	Het
Wdr95	T	C	5: 149,502,627 (GRCm39)		probably null	Het
Zfp81	T	C	17: 33,554,278 (GRCm39)	T179A	probably benign	Het

Other mutations in Endov

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Endov	APN	11	119,382,291 (GRCm39)	unclassified	probably benign
IGL00979:Endov	APN	11	119,391,444 (GRCm39)	missense	probably damaging	1.00
IGL02293:Endov	APN	11	119,395,999 (GRCm39)	unclassified	probably benign
R0414:Endov	UTSW	11	119,390,397 (GRCm39)	nonsense	probably null
R1452:Endov	UTSW	11	119,382,651 (GRCm39)	missense	probably damaging	1.00
R1911:Endov	UTSW	11	119,393,177 (GRCm39)	missense	possibly damaging	0.90
R2062:Endov	UTSW	11	119,390,408 (GRCm39)	missense	probably damaging	1.00
R2064:Endov	UTSW	11	119,390,408 (GRCm39)	missense	probably damaging	1.00
R2068:Endov	UTSW	11	119,390,408 (GRCm39)	missense	probably damaging	1.00
R5557:Endov	UTSW	11	119,393,186 (GRCm39)	missense	possibly damaging	0.79
R5579:Endov	UTSW	11	119,395,923 (GRCm39)	missense	probably benign	0.03
R5696:Endov	UTSW	11	119,382,625 (GRCm39)	missense	probably damaging	1.00
R5723:Endov	UTSW	11	119,390,675 (GRCm39)	missense	probably damaging	0.96
R7311:Endov	UTSW	11	119,398,077 (GRCm39)	missense	probably benign	0.31
R7580:Endov	UTSW	11	119,390,692 (GRCm39)	intron	probably benign
R8108:Endov	UTSW	11	119,398,237 (GRCm39)	missense	probably benign	0.33
R8379:Endov	UTSW	11	119,382,723 (GRCm39)	missense	possibly damaging	0.85
R8690:Endov	UTSW	11	119,382,736 (GRCm39)	missense	probably benign	0.09
R8795:Endov	UTSW	11	119,390,380 (GRCm39)	missense	possibly damaging	0.87
R9696:Endov	UTSW	11	119,398,048 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTCTGGGCTAATCCTGACC -3'
(R):5'- CGTTTCCATCCACAAGAACG -3'

Sequencing Primer
(F):5'- CACAGGTGGAAGCCATGG -3'
(R):5'- CACAGGGGAGTCAGTCAGCTG -3'

Posted On

2014-09-17