Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Endov'

161088

Institutional Source

Beutler Lab

Gene Symbol

Endov

Ensembl Gene

ENSMUSG00000039850

Gene Name

endonuclease V

Synonyms

A730011L01Rik

MMRRC Submission

039507-MU

Accession Numbers

Essential gene?

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

Stock #

R1452 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

119382173-119402263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119382651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 33 (T33A)

Ref Sequence

ENSEMBL: ENSMUSP00000131108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093902] [ENSMUST00000106244] [ENSMUST00000106245] [ENSMUST00000129327] [ENSMUST00000131035] [ENSMUST00000143817] [ENSMUST00000172235] [ENSMUST00000153204] [ENSMUST00000154370]

AlphaFold

Q8C9A2

Predicted Effect

probably benign
Transcript: ENSMUST00000093902

SMART Domains

Protein: ENSMUSP00000091429
Gene: ENSMUSG00000070327

Domain	Start	End	E-Value	Type
low complexity region	130	146	N/A	INTRINSIC
low complexity region	265	279	N/A	INTRINSIC
low complexity region	319	335	N/A	INTRINSIC
low complexity region	676	688	N/A	INTRINSIC
low complexity region	1114	1128	N/A	INTRINSIC
low complexity region	1546	1558	N/A	INTRINSIC
AAA	2373	2515	2.82e-2	SMART
AAA	2722	2890	3.63e-1	SMART
low complexity region	3449	3459	N/A	INTRINSIC
RING	3947	3985	8.69e-5	SMART
Blast:PP2Ac	4544	4722	3e-66	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106244
AA Change: T33A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101851
Gene: ENSMUSG00000039850
AA Change: T33A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106245

SMART Domains

Protein: ENSMUSP00000132755
Gene: ENSMUSG00000039850

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129327

SMART Domains

Protein: ENSMUSP00000119599
Gene: ENSMUSG00000039850

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131035

SMART Domains

Protein: ENSMUSP00000115063
Gene: ENSMUSG00000070327

Domain	Start	End	E-Value	Type
low complexity region	130	146	N/A	INTRINSIC
low complexity region	265	279	N/A	INTRINSIC
low complexity region	319	335	N/A	INTRINSIC
low complexity region	676	688	N/A	INTRINSIC
low complexity region	1113	1127	N/A	INTRINSIC
low complexity region	1545	1557	N/A	INTRINSIC
AAA	2372	2514	2.82e-2	SMART
AAA	2721	2889	3.63e-1	SMART
low complexity region	3448	3458	N/A	INTRINSIC
RING	3946	3984	8.69e-5	SMART
Blast:PP2Ac	4542	4720	3e-66	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134873

Predicted Effect

unknown
Transcript: ENSMUST00000140323
AA Change: T25A

SMART Domains

Protein: ENSMUSP00000118226
Gene: ENSMUSG00000039850
AA Change: T25A

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

probably damaging
Transcript: ENSMUST00000143817
AA Change: T33A

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

SMART Domains

Protein: ENSMUSP00000131108
Gene: ENSMUSG00000039850
AA Change: T33A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208034

Predicted Effect

probably benign
Transcript: ENSMUST00000172235

Predicted Effect

probably benign
Transcript: ENSMUST00000153204

SMART Domains

Protein: ENSMUSP00000128455
Gene: ENSMUSG00000039850

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154370

SMART Domains

Protein: ENSMUSP00000132873
Gene: ENSMUSG00000039850

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

Meta Mutation Damage Score

0.1807

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,015 (GRCm39)	I1446M	probably benign	Het
Acaca	T	A	11: 84,185,885 (GRCm39)		probably benign	Het
Adgre4	A	T	17: 56,091,996 (GRCm39)	E85D	probably benign	Het
Akt3	A	T	1: 176,958,633 (GRCm39)	Y26N	possibly damaging	Het
Arl15	T	C	13: 114,104,319 (GRCm39)	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,168,360 (GRCm39)		probably benign	Het
Atrip	T	A	9: 108,901,727 (GRCm39)	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,173,065 (GRCm39)		probably benign	Het
Cd53	C	T	3: 106,676,275 (GRCm39)	G31S	probably damaging	Het
Cdk14	T	C	5: 4,938,927 (GRCm39)	S404G	possibly damaging	Het
Cers3	A	T	7: 66,433,152 (GRCm39)	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,379,904 (GRCm39)	L448M	probably damaging	Het
Cox15	G	T	19: 43,735,344 (GRCm39)	T141K	probably damaging	Het
Csnk2a2	C	T	8: 96,184,003 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,624,813 (GRCm39)		probably benign	Het
Cyp2c55	A	G	19: 38,999,534 (GRCm39)	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,232,328 (GRCm39)	Y693C	possibly damaging	Het
Des	T	C	1: 75,340,121 (GRCm39)	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,080,207 (GRCm39)		probably benign	Het
Eif3m	T	A	2: 104,837,122 (GRCm39)	Q199L	probably damaging	Het
Emsy	G	T	7: 98,249,881 (GRCm39)	T802K	probably damaging	Het
Epb41l5	G	A	1: 119,476,896 (GRCm39)	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,209,228 (GRCm39)	I363V	probably benign	Het
Gm8674	C	T	13: 50,054,553 (GRCm39)		noncoding transcript	Het
Il6st	T	A	13: 112,617,998 (GRCm39)	N137K	possibly damaging	Het
Inf2	A	G	12: 112,567,778 (GRCm39)	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,558 (GRCm39)	I376N	probably benign	Het
Kansl3	A	G	1: 36,393,874 (GRCm39)		probably benign	Het
Kbtbd2	A	T	6: 56,758,909 (GRCm39)	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,468,208 (GRCm39)	Y140*	probably null	Het
Mab21l4	T	C	1: 93,080,661 (GRCm39)	Y415C	probably damaging	Het
Macf1	T	A	4: 123,387,791 (GRCm39)	I924L	probably benign	Het
Mcoln2	A	T	3: 145,887,569 (GRCm39)	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,217,354 (GRCm39)	L621Q	probably damaging	Het
Mmut	A	G	17: 41,248,359 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,225,457 (GRCm39)	H1038R	probably damaging	Het
Neb	A	G	2: 52,161,309 (GRCm39)		probably null	Het
Ngrn	A	G	7: 79,914,520 (GRCm39)	T224A	probably benign	Het
Nin	G	A	12: 70,064,424 (GRCm39)	R2019*	probably null	Het
Nphp4	C	G	4: 152,631,475 (GRCm39)	Q792E	probably damaging	Het
Or13e8	C	T	4: 43,696,823 (GRCm39)	V117M	probably benign	Het
Or2z9	C	T	8: 72,854,020 (GRCm39)	Q139*	probably null	Het
Or4c3d	C	T	2: 89,882,015 (GRCm39)	V218I	possibly damaging	Het
Or5d38	C	T	2: 87,954,655 (GRCm39)	V225I	probably benign	Het
Or8k3	T	A	2: 86,058,799 (GRCm39)	N172I	probably damaging	Het
Pde4dip	C	A	3: 97,631,418 (GRCm39)	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,516,310 (GRCm39)		probably benign	Het
Prim2	T	A	1: 33,669,485 (GRCm39)	E163D	probably benign	Het
Prrc2b	A	T	2: 32,084,997 (GRCm39)	D296V	probably damaging	Het
Pter	A	G	2: 12,983,432 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,228,130 (GRCm39)	K392I	probably damaging	Het
Robo2	C	A	16: 73,758,798 (GRCm39)	V662L	probably damaging	Het
Sirpd	G	T	3: 15,397,212 (GRCm39)	T24K	unknown	Het
Slco1b2	A	T	6: 141,617,926 (GRCm39)	I424F	probably benign	Het
Snx29	A	T	16: 11,449,335 (GRCm39)	H260L	probably damaging	Het
Stil	A	G	4: 114,896,392 (GRCm39)	N959S	probably benign	Het
Taar8c	A	T	10: 23,977,508 (GRCm39)	D101E	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,148 (GRCm39)	M573I	probably damaging	Het
Tsr1	A	T	11: 74,790,425 (GRCm39)	D171V	probably benign	Het
Ube4b	T	C	4: 149,455,626 (GRCm39)	T348A	probably damaging	Het
Vmn1r85	A	T	7: 12,818,808 (GRCm39)	I112N	probably damaging	Het
Vps36	A	G	8: 22,708,226 (GRCm39)		probably null	Het
Wdfy3	G	A	5: 102,085,604 (GRCm39)	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,707,144 (GRCm39)	D14E	probably null	Het
Ylpm1	T	C	12: 85,077,157 (GRCm39)	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,790,936 (GRCm39)	F378L	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
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
R2063: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'- CCTTCTCAGTGTGGCTTGATGGAC -3'
(R):5'- ACAAGCATCCTGGTGCCCATATTTC -3'

Sequencing Primer
(F):5'- TGTGGCTTGATGGACAAAAAG -3'
(R):5'- GGGGTGCAAGtattaaaaaaaaaaag -3'

Posted On

2014-03-14