Mutagenetix > Incidental Mutation

Incidental Mutation 'R5764:Endou'

501497

Institutional Source

Beutler Lab

Gene Symbol

Endou

Ensembl Gene

ENSMUSG00000022468

Gene Name

endonuclease, polyU-specific

Synonyms

Tcl-30, Pp11r

MMRRC Submission

043365-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97608896-97629220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97612488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 253 (R253C)

Ref Sequence

ENSEMBL: ENSMUSP00000097820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023105] [ENSMUST00000100249] [ENSMUST00000230430]

AlphaFold

Q3V188

Predicted Effect

probably damaging
Transcript: ENSMUST00000023105
AA Change: R295C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023105
Gene: ENSMUSG00000022468
AA Change: R295C

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
SO	127	169	1.93e-11	SMART
Pfam:XendoU	181	448	1.4e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100249
AA Change: R253C

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

SMART Domains

Protein: ENSMUSP00000097820
Gene: ENSMUSG00000022468
AA Change: R253C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
SO	20	62	8.61e-9	SMART
SO	85	127	1.93e-11	SMART
Pfam:XendoU	136	407	2.8e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230430

Meta Mutation Damage Score

0.1096

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal splenic B cell numbers and activation-induced B cell apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Arap2	T	C	5: 62,800,197 (GRCm39)	T1277A	probably damaging	Het
Cep85l	A	T	10: 53,225,090 (GRCm39)	D166E	probably benign	Het
Cope	T	C	8: 70,759,231 (GRCm39)	S125P	probably damaging	Het
Dzip3	A	G	16: 48,747,724 (GRCm39)		probably benign	Het
Entpd1	A	T	19: 40,727,417 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,573,172 (GRCm39)	Y926H	probably damaging	Het
Grk3	A	G	5: 113,114,776 (GRCm39)		probably null	Het
Hba-a2	T	A	11: 32,247,156 (GRCm39)		probably null	Het
Hecw1	C	T	13: 14,497,094 (GRCm39)	V305I	probably damaging	Het
Hspg2	C	A	4: 137,289,032 (GRCm39)	T3735K	probably damaging	Het
Htr4	G	A	18: 62,570,613 (GRCm39)	A223T	probably damaging	Het
Iglv1	T	C	16: 18,904,190 (GRCm39)	I7M	unknown	Het
Jag1	C	T	2: 136,931,167 (GRCm39)	C655Y	probably damaging	Het
Jmjd1c	C	T	10: 67,062,291 (GRCm39)	T1548I	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Klra6	T	A	6: 129,999,692 (GRCm39)	Q92L	possibly damaging	Het
Lrp1	T	C	10: 127,431,187 (GRCm39)	N325S	probably benign	Het
Ly75	C	T	2: 60,148,783 (GRCm39)	R1182H	probably benign	Het
Map2	T	C	1: 66,454,034 (GRCm39)	S975P	probably damaging	Het
Med13l	T	A	5: 118,866,707 (GRCm39)	L587Q	probably damaging	Het
Mpdz	A	G	4: 81,274,683 (GRCm39)	F180L	probably benign	Het
Myadm	G	A	7: 3,345,768 (GRCm39)	V177I	possibly damaging	Het
Ngly1	T	A	14: 16,260,799 (GRCm38)	M161K	probably benign	Het
Nup153	A	G	13: 46,840,803 (GRCm39)	M255T	probably damaging	Het
Pgm1	C	T	4: 99,822,043 (GRCm39)	A303V	probably damaging	Het
Pgr	A	T	9: 8,900,538 (GRCm39)	I24F	probably benign	Het
Pigq	A	T	17: 26,151,093 (GRCm39)	I412N	probably damaging	Het
Plod2	A	G	9: 92,485,074 (GRCm39)	H525R	probably damaging	Het
Polq	T	G	16: 36,837,706 (GRCm39)	M206R	probably damaging	Het
Psap	T	A	10: 60,129,186 (GRCm39)	S100T	probably benign	Het
Psme4	G	A	11: 30,722,364 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,732,080 (GRCm39)	M260L	probably benign	Het
Serpinf2	A	G	11: 75,328,230 (GRCm39)	L106P	possibly damaging	Het
Sumf1	C	T	6: 108,095,424 (GRCm39)		probably benign	Het
Tcp1	A	G	17: 13,135,489 (GRCm39)	T13A	probably benign	Het
Tfap2a	A	C	13: 40,881,831 (GRCm39)	I185S	possibly damaging	Het
Tlr2	A	C	3: 83,745,819 (GRCm39)	I88S	probably damaging	Het
Tmc4	A	T	7: 3,675,022 (GRCm39)	F283L	probably damaging	Het
Tox4	T	C	14: 52,523,277 (GRCm39)	V79A	probably damaging	Het
Trim10	A	T	17: 37,181,073 (GRCm39)	E101D	probably damaging	Het
Troap	T	A	15: 98,973,300 (GRCm39)	I22N	probably damaging	Het
Unc13c	C	T	9: 73,441,185 (GRCm39)		probably null	Het
Utp4	T	G	8: 107,644,248 (GRCm39)	V529G	possibly damaging	Het
Zeb2	T	C	2: 44,886,931 (GRCm39)	M664V	possibly damaging	Het
Zfp180	A	G	7: 23,800,909 (GRCm39)	Y53C	possibly damaging	Het

Other mutations in Endou

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0364:Endou	UTSW	15	97,616,854 (GRCm39)	splice site	probably benign
R1134:Endou	UTSW	15	97,611,747 (GRCm39)	missense	probably damaging	1.00
R1418:Endou	UTSW	15	97,616,854 (GRCm39)	splice site	probably benign
R1896:Endou	UTSW	15	97,610,873 (GRCm39)	missense	probably damaging	1.00
R2960:Endou	UTSW	15	97,611,687 (GRCm39)	missense	probably damaging	1.00
R4018:Endou	UTSW	15	97,616,818 (GRCm39)	missense	probably damaging	0.99
R4618:Endou	UTSW	15	97,611,763 (GRCm39)	missense	possibly damaging	0.67
R4754:Endou	UTSW	15	97,624,420 (GRCm39)	missense	probably damaging	0.99
R4807:Endou	UTSW	15	97,629,113 (GRCm39)	missense	probably benign	0.01
R4997:Endou	UTSW	15	97,617,458 (GRCm39)	missense	probably damaging	1.00
R5321:Endou	UTSW	15	97,618,913 (GRCm39)	missense	probably damaging	0.99
R5470:Endou	UTSW	15	97,616,836 (GRCm39)	missense	probably damaging	1.00
R5604:Endou	UTSW	15	97,618,800 (GRCm39)	missense	probably benign	0.00
R6114:Endou	UTSW	15	97,611,757 (GRCm39)	nonsense	probably null
R6404:Endou	UTSW	15	97,610,012 (GRCm39)	missense	probably damaging	1.00
R6528:Endou	UTSW	15	97,617,510 (GRCm39)	missense	probably damaging	1.00
R7089:Endou	UTSW	15	97,618,126 (GRCm39)	missense	probably benign	0.01
R7103:Endou	UTSW	15	97,616,810 (GRCm39)	missense	probably damaging	1.00
R7382:Endou	UTSW	15	97,616,807 (GRCm39)	nonsense	probably null
R7707:Endou	UTSW	15	97,610,983 (GRCm39)	critical splice acceptor site	probably null
R7759:Endou	UTSW	15	97,611,747 (GRCm39)	missense	probably damaging	1.00
R9294:Endou	UTSW	15	97,609,946 (GRCm39)	missense	probably benign	0.29
R9300:Endou	UTSW	15	97,610,954 (GRCm39)	missense	probably benign	0.03
R9544:Endou	UTSW	15	97,609,969 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGACTCGAAGCAGACATC -3'
(R):5'- TCTTCCCATGAAAAGCAAGCTG -3'

Sequencing Primer
(F):5'- GACTCGAAGCAGACATCTTTATC -3'
(R):5'- TGTAGAGACAGACCCTGTATGTG -3'

Posted On

2017-12-01