Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Endov'

484569

Institutional Source

Beutler Lab

Gene Symbol

Endov

Ensembl Gene

ENSMUSG00000039850

Gene Name

endonuclease V

Synonyms

A730011L01Rik

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

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

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119382173-119402263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119393186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 112 (M112T)

Ref Sequence

ENSEMBL: ENSMUSP00000068849 (fasta)

Gene Model

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

AlphaFold

Q8C9A2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064513
AA Change: M112T

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068849
Gene: ENSMUSG00000039850
AA Change: M112T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106244
AA Change: M195T

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101851
Gene: ENSMUSG00000039850
AA Change: M195T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106245
AA Change: M112T

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132755
Gene: ENSMUSG00000039850
AA Change: M112T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129327
AA Change: M112T

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119599
Gene: ENSMUSG00000039850
AA Change: M112T

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

unknown
Transcript: ENSMUST00000140323
AA Change: M142T

SMART Domains

Protein: ENSMUSP00000118226
Gene: ENSMUSG00000039850
AA Change: M142T

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 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: ENSMUST00000143817

SMART Domains

Protein: ENSMUSP00000131108
Gene: ENSMUSG00000039850

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143670

Meta Mutation Damage Score

0.1007

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	probably damaging	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
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
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'- ATCTAGCCGACCTGCACTTTTG -3'
(R):5'- ATCTTCAGGTGGCACATGGG -3'

Sequencing Primer
(F):5'- GTGTAGTCCTGTCTAGCCTCAAAC -3'
(R):5'- CATGGGGTGAGGGTAGCC -3'

Posted On

2017-08-14