Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01302:Endod1'

73285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Endod1

Ensembl Gene

ENSMUSG00000037419

Gene Name

endonuclease domain containing 1

Synonyms

2210414F18Rik, 2310067E08Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01302

Quality Score

Status

Chromosome

Chromosomal Location

14265286-14292538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14268535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 317 (S317T)

Ref Sequence

ENSEMBL: ENSMUSP00000127751 (fasta)

Gene Model

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

AlphaFold

Q8C522

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167549
AA Change: S317T

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127751
Gene: ENSMUSG00000037419
AA Change: S317T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,470 (GRCm39)		probably benign	Het
Abcb5	T	A	12: 118,881,935 (GRCm39)	D598V	probably damaging	Het
Adss1	T	C	12: 112,601,170 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,020,711 (GRCm39)	S1141T	probably benign	Het
Avil	T	C	10: 126,852,903 (GRCm39)		probably null	Het
Avl9	C	A	6: 56,702,075 (GRCm39)	H77N	probably damaging	Het
Cacna1e	A	G	1: 154,319,653 (GRCm39)	V1349A	probably damaging	Het
Cdc23	A	C	18: 34,767,697 (GRCm39)	S483A	probably benign	Het
Cep192	C	T	18: 67,991,974 (GRCm39)	P1951S	probably benign	Het
Cp	A	G	3: 20,020,531 (GRCm39)	T175A	probably damaging	Het
Dubr	A	C	16: 50,552,998 (GRCm39)		noncoding transcript	Het
Eif4g2	G	T	7: 110,673,920 (GRCm39)	Q695K	possibly damaging	Het
Ep400	T	C	5: 110,889,914 (GRCm39)	T450A	probably benign	Het
Erc1	A	C	6: 119,699,264 (GRCm39)	V790G	probably damaging	Het
Fam222a	T	A	5: 114,732,514 (GRCm39)	L23Q	possibly damaging	Het
Fancf	A	G	7: 51,511,035 (GRCm39)	V323A	probably benign	Het
Grik2	T	A	10: 49,120,426 (GRCm39)	Q621L	probably damaging	Het
Gsk3b	G	T	16: 38,040,380 (GRCm39)	R319L	probably benign	Het
Ikzf1	A	G	11: 11,718,923 (GRCm39)	Y297C	probably damaging	Het
Katnal2	T	C	18: 77,134,863 (GRCm39)		probably benign	Het
Lrba	G	T	3: 86,202,707 (GRCm39)	C289F	probably damaging	Het
Mos	T	C	4: 3,871,815 (GRCm39)		probably benign	Het
Mycn	T	C	12: 12,987,587 (GRCm39)	D270G	possibly damaging	Het
Or52e15	A	T	7: 104,645,928 (GRCm39)	M61K	probably damaging	Het
Or6c207	T	A	10: 129,104,392 (GRCm39)	I267F	probably benign	Het
Pclo	A	G	5: 14,726,013 (GRCm39)		probably benign	Het
Pgm1	A	G	4: 99,786,803 (GRCm39)	D14G	probably damaging	Het
Pramel7	T	A	2: 87,321,717 (GRCm39)	D106V	possibly damaging	Het
Prdm9	G	T	17: 15,773,608 (GRCm39)	H263N	probably benign	Het
Psd4	T	A	2: 24,286,799 (GRCm39)		probably null	Het
Ptprc	G	A	1: 138,027,369 (GRCm39)	T493I	possibly damaging	Het
Rbbp8	T	A	18: 11,855,036 (GRCm39)	S420R	probably benign	Het
Sap30bp	A	G	11: 115,853,373 (GRCm39)	T219A	probably damaging	Het
Shld2	C	T	14: 33,981,684 (GRCm39)	V485I	probably benign	Het
Slc2a7	T	A	4: 150,242,021 (GRCm39)	L200Q	probably damaging	Het
Slc38a6	T	A	12: 73,335,299 (GRCm39)		probably null	Het
Tatdn2	T	A	6: 113,680,985 (GRCm39)		probably benign	Het
Thrb	A	G	14: 18,011,056 (GRCm38)		probably benign	Het
Timp4	T	C	6: 115,223,269 (GRCm39)	Y218C	possibly damaging	Het
Tlr5	A	G	1: 182,802,313 (GRCm39)	D525G	probably benign	Het
Usp32	G	T	11: 84,879,308 (GRCm39)	T1467N	probably benign	Het
Vmn2r78	A	G	7: 86,564,569 (GRCm39)	I5V	unknown	Het
Zbtb43	T	C	2: 33,344,103 (GRCm39)	H374R	probably benign	Het
Zfhx4	C	A	3: 5,308,628 (GRCm39)	T618K	probably damaging	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
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
R5017:Endod1	UTSW	9	14,268,187 (GRCm39)	nonsense	probably null
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

Posted On

2013-10-07