Mutagenetix > Incidental Mutation

Incidental Mutation 'R5017:Endod1'

385622

Institutional Source

Beutler Lab

Gene Symbol

Endod1

Ensembl Gene

ENSMUSG00000037419

Gene Name

endonuclease domain containing 1

Synonyms

2210414F18Rik, 2310067E08Rik

MMRRC Submission

042608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5017 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14265286-14292538 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 14268187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 433 (R433*)

Ref Sequence

ENSEMBL: ENSMUSP00000127751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167549]

AlphaFold

Q8C522

Predicted Effect

probably null
Transcript: ENSMUST00000167549
AA Change: R433*

SMART Domains

Protein: ENSMUSP00000127751
Gene: ENSMUSG00000037419
AA Change: R433*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Endonuclease_NS	61	261	9.04e-1	SMART
NUC	62	264	1.64e-3	SMART
coiled coil region	271	299	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	430	452	N/A	INTRINSIC
transmembrane domain	467	486	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213403

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.1%
3x: 97.0%
10x: 94.3%
20x: 87.9%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,810,694 (GRCm39)	D154G	probably benign	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arhgef3	G	T	14: 26,987,487 (GRCm39)	R20L	possibly damaging	Het
Birc2	A	T	9: 7,818,886 (GRCm39)	C568*	probably null	Het
Bltp3a	T	A	17: 28,113,713 (GRCm39)	L1295*	probably null	Het
Cep44	A	G	8: 56,997,242 (GRCm39)	S99P	possibly damaging	Het
Clstn2	A	G	9: 97,365,139 (GRCm39)	W456R	probably damaging	Het
Cog5	T	A	12: 31,970,604 (GRCm39)	S783T	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gdpd4	C	A	7: 97,653,482 (GRCm39)	Y498*	probably null	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Ifit3	A	C	19: 34,564,592 (GRCm39)	N46T	possibly damaging	Het
Kcnh8	T	C	17: 53,200,958 (GRCm39)	L464S	probably damaging	Het
Lrrc9	C	A	12: 72,553,099 (GRCm39)	R1334S	possibly damaging	Het
Macf1	A	G	4: 123,345,906 (GRCm39)	F2631L	probably damaging	Het
Mafa	T	C	15: 75,619,338 (GRCm39)	H145R	probably benign	Het
Muc6	T	C	7: 141,226,795 (GRCm39)	T1411A	probably benign	Het
Nos3	A	G	5: 24,571,717 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,807,484 (GRCm39)		probably benign	Het
Or10g6	A	T	9: 39,933,672 (GRCm39)		probably benign	Het
Or8a1b	A	T	9: 37,622,821 (GRCm39)	Y251*	probably null	Het
Or8g20	A	T	9: 39,396,051 (GRCm39)	M166K	possibly damaging	Het
Pde11a	A	T	2: 75,966,711 (GRCm39)	D579E	probably benign	Het
Phkb	A	T	8: 86,776,438 (GRCm39)	H954L	probably benign	Het
Phldb3	C	T	7: 24,319,521 (GRCm39)	T353M	probably damaging	Het
Pigu	A	T	2: 155,141,128 (GRCm39)		probably null	Het
Pla2r1	A	G	2: 60,353,104 (GRCm39)		probably null	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Setbp1	C	A	18: 78,899,809 (GRCm39)	G1286V	possibly damaging	Het
Siglecg	T	A	7: 43,060,810 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,738,836 (GRCm39)	H118Q	probably damaging	Het
Spata31h1	A	T	10: 82,132,510 (GRCm39)	F167I	unknown	Het
Sycp1	A	T	3: 102,803,303 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,414 (GRCm39)	T862A	probably benign	Het
Tmem256	T	C	11: 69,729,818 (GRCm39)		probably benign	Het
Tpr	A	T	1: 150,274,388 (GRCm39)	E98D	probably benign	Het
Trdn	A	G	10: 33,344,155 (GRCm39)	D623G	probably benign	Het
Trip11	T	C	12: 101,812,879 (GRCm39)	N1485S	probably benign	Het
Trpm1	T	C	7: 63,894,580 (GRCm39)		probably benign	Het
Vmn1r227	T	C	17: 20,956,340 (GRCm39)		noncoding transcript	Het
Xpo6	G	A	7: 125,703,919 (GRCm39)	A21V	probably benign	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het

Other mutations in Endod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Endod1	APN	9	14,268,049 (GRCm39)	missense	possibly damaging	0.93
IGL01302:Endod1	APN	9	14,268,535 (GRCm39)	missense	possibly damaging	0.50
IGL02895:Endod1	APN	9	14,268,166 (GRCm39)	missense	probably benign	0.06
IGL02994:Endod1	APN	9	14,268,183 (GRCm39)	missense	possibly damaging	0.93
IGL03120:Endod1	APN	9	14,268,331 (GRCm39)	missense	probably damaging	0.98
royal_gorge	UTSW	9	14,268,166 (GRCm39)	missense	probably benign	0.06
R0745:Endod1	UTSW	9	14,268,413 (GRCm39)	missense	possibly damaging	0.92
R1087:Endod1	UTSW	9	14,268,489 (GRCm39)	missense	possibly damaging	0.69
R1829:Endod1	UTSW	9	14,268,222 (GRCm39)	missense	probably damaging	1.00
R1857:Endod1	UTSW	9	14,268,405 (GRCm39)	missense	probably benign	0.05
R2120:Endod1	UTSW	9	14,268,949 (GRCm39)	missense	probably benign	0.07
R3906:Endod1	UTSW	9	14,292,151 (GRCm39)	missense	probably benign	0.12
R4801:Endod1	UTSW	9	14,268,319 (GRCm39)	missense	probably benign	0.05
R4802:Endod1	UTSW	9	14,268,319 (GRCm39)	missense	probably benign	0.05
R6027:Endod1	UTSW	9	14,268,893 (GRCm39)	nonsense	probably null
R6179:Endod1	UTSW	9	14,268,757 (GRCm39)	missense	probably benign	0.00
R6279:Endod1	UTSW	9	14,268,166 (GRCm39)	missense	probably benign	0.06
R6300:Endod1	UTSW	9	14,268,166 (GRCm39)	missense	probably benign	0.06
R6986:Endod1	UTSW	9	14,268,606 (GRCm39)	missense	probably damaging	1.00
R7314:Endod1	UTSW	9	14,268,295 (GRCm39)	missense	probably benign	0.07
R8921:Endod1	UTSW	9	14,268,942 (GRCm39)	missense	probably damaging	1.00
R9573:Endod1	UTSW	9	14,292,247 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTAGCCAATCCGCTTGAAG -3'
(R):5'- ATAGTCCATCTCCTTTGGTTGG -3'

Sequencing Primer
(F):5'- GCTTGAAGACACTAAAAACAATCTG -3'
(R):5'- ACACTGTTGAGAGTTGCCTATACC -3'

Posted On

2016-05-10