Mutagenetix > Incidental Mutation

Incidental Mutation 'R5696:Endov'

450692

Institutional Source

Beutler Lab

Gene Symbol

Endov

Ensembl Gene

ENSMUSG00000039850

Gene Name

endonuclease V

Synonyms

A730011L01Rik

Accession Numbers

Essential gene?

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

Stock #

R5696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119382173-119402263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119382625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 24 (L24Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131108 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000106244
AA Change: L24Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101851
Gene: ENSMUSG00000039850
AA Change: L24Q

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: L16Q

SMART Domains

Protein: ENSMUSP00000118226
Gene: ENSMUSG00000039850
AA Change: L16Q

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

noncoding transcript
Transcript: ENSMUST00000143670

Predicted Effect

probably damaging
Transcript: ENSMUST00000143817
AA Change: L24Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131108
Gene: ENSMUSG00000039850
AA Change: L24Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208476

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172235

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,569,159 (GRCm39)	R186W	probably benign	Het
Afg3l2	A	G	18: 67,540,529 (GRCm39)	I660T	probably damaging	Het
Amtn	T	A	5: 88,532,944 (GRCm39)	Y186*	probably null	Het
Atosa	A	G	9: 74,917,399 (GRCm39)	E666G	probably benign	Het
Atrip	A	G	9: 108,894,569 (GRCm39)	S453P	possibly damaging	Het
Bahcc1	T	C	11: 120,164,813 (GRCm39)	L840P	probably damaging	Het
Capn2	T	C	1: 182,306,165 (GRCm39)	E527G	possibly damaging	Het
Caprin2	A	T	6: 148,779,316 (GRCm39)	Y164N	possibly damaging	Het
Ccnh	T	A	13: 85,344,446 (GRCm39)		probably null	Het
Cdon	G	T	9: 35,403,162 (GRCm39)	V1091F	possibly damaging	Het
Ceacam14	A	G	7: 17,548,267 (GRCm39)	Y119C	probably damaging	Het
Ces2h	A	G	8: 105,745,611 (GRCm39)	K445E	possibly damaging	Het
Cfap46	A	G	7: 139,191,947 (GRCm39)	S2357P	probably damaging	Het
Commd4	A	T	9: 57,063,499 (GRCm39)	S86R	possibly damaging	Het
Cpsf6	A	T	10: 117,196,934 (GRCm39)		probably benign	Het
Dag1	A	T	9: 108,086,646 (GRCm39)	V165E	probably benign	Het
Dmxl1	A	T	18: 50,065,008 (GRCm39)	K2618*	probably null	Het
Dnah17	A	G	11: 117,991,882 (GRCm39)	Y1229H	probably benign	Het
Fap	C	T	2: 62,332,803 (GRCm39)	V717M	probably damaging	Het
Fbxl2	A	G	9: 113,815,546 (GRCm39)	L239P	probably damaging	Het
Fbxl5	A	T	5: 43,916,182 (GRCm39)	V367D	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Gbp8	C	T	5: 105,166,682 (GRCm39)	V216I	possibly damaging	Het
Gclm	G	A	3: 122,059,936 (GRCm39)	A239T	probably benign	Het
Gm11569	C	T	11: 99,689,556 (GRCm39)		probably benign	Het
Gnas	C	A	2: 174,141,468 (GRCm39)		probably benign	Het
Grb10	T	A	11: 11,883,566 (GRCm39)	N508I	probably benign	Het
Gykl1	T	G	18: 52,827,267 (GRCm39)	I158M	probably benign	Het
Ide	G	A	19: 37,295,420 (GRCm39)	T214M	unknown	Het
Il12rb2	T	A	6: 67,272,262 (GRCm39)	Q341H	possibly damaging	Het
Ints1	T	C	5: 139,740,744 (GRCm39)	E1946G	probably benign	Het
Kdelr3	T	C	15: 79,410,100 (GRCm39)		probably null	Het
Kif1b	A	C	4: 149,358,306 (GRCm39)		probably null	Het
Kri1	A	G	9: 21,191,533 (GRCm39)	I320T	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,486,646 (GRCm39)	S111P	probably benign	Het
Lpcat2b	C	A	5: 107,580,773 (GRCm39)	P34Q	probably damaging	Het
Ltk	T	A	2: 119,590,080 (GRCm39)	T49S	probably benign	Het
Map3k9	A	T	12: 81,780,896 (GRCm39)	H421Q	probably benign	Het
Mapkbp1	T	A	2: 119,852,201 (GRCm39)		probably null	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Nek10	T	A	14: 14,860,736 (GRCm38)		probably null	Het
Nlrp9b	A	T	7: 19,758,417 (GRCm39)	R551S	probably benign	Het
Nol4l	T	C	2: 153,260,026 (GRCm39)	T143A	probably damaging	Het
Or1r1	T	C	11: 73,875,362 (GRCm39)	H24R	possibly damaging	Het
Or51g1	T	A	7: 102,633,748 (GRCm39)	T208S	probably benign	Het
Or6z5	T	C	7: 6,477,742 (GRCm39)		probably null	Het
Or7a39	A	T	10: 78,715,919 (GRCm39)	R304S	probably benign	Het
Pde4dip	G	T	3: 97,616,806 (GRCm39)	A1812D	probably damaging	Het
Plekhb1	C	A	7: 100,305,960 (GRCm39)	G26C	probably damaging	Het
Polr1a	T	A	6: 71,906,410 (GRCm39)	F409I	probably benign	Het
Ptpn13	T	A	5: 103,702,625 (GRCm39)	M1197K	probably benign	Het
Qrich2	T	C	11: 116,335,828 (GRCm39)	I2114V	probably damaging	Het
Rbm27	T	C	18: 42,450,731 (GRCm39)	Y449H	probably damaging	Het
Rp1l1	A	G	14: 64,267,195 (GRCm39)	D927G	probably damaging	Het
Secisbp2	C	A	13: 51,833,857 (GRCm39)	Q666K	probably damaging	Het
Slc45a2	T	C	15: 11,001,219 (GRCm39)	I106T	probably damaging	Het
Slx4	G	T	16: 3,797,831 (GRCm39)	Q1518K	probably damaging	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Son	T	C	16: 91,468,301 (GRCm39)	V306A	possibly damaging	Het
Stab1	A	G	14: 30,882,178 (GRCm39)	S506P	probably benign	Het
Syne2	A	C	12: 76,040,919 (GRCm39)	D3859A	probably benign	Het
Tab1	T	A	15: 80,032,930 (GRCm39)	Y71*	probably null	Het
Tarbp1	A	C	8: 127,174,079 (GRCm39)	M909R	probably damaging	Het
Tex15	T	G	8: 34,063,220 (GRCm39)	S1157R	probably benign	Het
Tnni3	G	A	7: 4,523,453 (GRCm39)	T120I	probably benign	Het
Ttn	T	C	2: 76,747,888 (GRCm39)	E4387G	probably benign	Het
Ugt3a1	G	A	15: 9,361,534 (GRCm39)		silent	Het
Unc5d	T	C	8: 29,156,870 (GRCm39)	I783V	probably benign	Het
Usp40	T	C	1: 87,923,474 (GRCm39)	T266A	probably benign	Het
Vmn2r59	C	T	7: 41,695,468 (GRCm39)	V315I	probably benign	Het
Zbtb48	G	T	4: 152,105,067 (GRCm39)	H532N	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly 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
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
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'- AGTTGCAGCCAGCCTTTGTG -3'
(R):5'- TCTCTGCCTACGATCGAACTG -3'

Sequencing Primer
(F):5'- GGCGTGGTCCTCGTTTCC -3'
(R):5'- TACGATCGAACTGCACCGG -3'

Posted On

2017-01-03