Mutagenetix > Incidental Mutation

Incidental Mutation 'R0436:Exd2'

39022

Institutional Source

Beutler Lab

Gene Symbol

Exd2

Ensembl Gene

ENSMUSG00000032705

Gene Name

exonuclease 3'-5' domain containing 2

Synonyms

4930539P14Rik, Exdl2

MMRRC Submission

038637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0436 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

80509869-80544909 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 80537544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038185] [ENSMUST00000219039]

AlphaFold

Q8VEG4

Predicted Effect

probably benign
Transcript: ENSMUST00000038185

SMART Domains

Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	40	72	N/A	INTRINSIC
35EXOc	105	291	3.8e-10	SMART
Blast:HNHc	438	492	1e-6	BLAST
low complexity region	517	532	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218565

Predicted Effect

probably benign
Transcript: ENSMUST00000219039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220239

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,682 (GRCm39)		probably benign	Het
Abcb10	C	T	8: 124,697,740 (GRCm39)	G195S	probably benign	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Alx4	A	T	2: 93,498,702 (GRCm39)	K145*	probably null	Het
Arl8a	G	A	1: 135,074,718 (GRCm39)	M1I	probably null	Het
Btbd16	G	A	7: 130,387,783 (GRCm39)	S134N	probably benign	Het
Ccdc136	T	A	6: 29,414,933 (GRCm39)	L474Q	probably damaging	Het
Cebpz	A	G	17: 79,243,079 (GRCm39)	Y192H	probably benign	Het
Cep95	A	G	11: 106,709,511 (GRCm39)	Q109R	probably null	Het
Cfap54	G	T	10: 92,874,837 (GRCm39)	Q520K	possibly damaging	Het
Cog2	C	T	8: 125,275,253 (GRCm39)		probably benign	Het
Cul1	A	G	6: 47,500,707 (GRCm39)	N702S	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmxl2	T	C	9: 54,291,034 (GRCm39)	D2472G	probably damaging	Het
Drgx	T	C	14: 32,330,040 (GRCm39)	F81S	probably damaging	Het
Ect2	A	G	3: 27,204,244 (GRCm39)	F22L	probably benign	Het
Ehd4	A	T	2: 119,932,822 (GRCm39)	D201E	probably damaging	Het
Eif4ebp3	A	G	18: 36,797,354 (GRCm39)		probably null	Het
Gtf2a1	A	C	12: 91,535,047 (GRCm39)		probably null	Het
H2-DMb1	A	G	17: 34,378,630 (GRCm39)	Y256C	probably damaging	Het
Haus6	T	C	4: 86,504,044 (GRCm39)	R527G	probably benign	Het
Helb	C	T	10: 119,930,117 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hk1	A	T	10: 62,135,054 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,295,624 (GRCm39)	K2611R	probably damaging	Het
Hrc	A	G	7: 44,985,557 (GRCm39)	H236R	possibly damaging	Het
Hunk	T	A	16: 90,261,042 (GRCm39)	Y178N	probably damaging	Het
Iftap	T	C	2: 101,440,864 (GRCm39)		probably benign	Het
Jakmip2	G	A	18: 43,691,234 (GRCm39)	Q616*	probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Msantd4	C	T	9: 4,385,180 (GRCm39)	R302C	probably damaging	Het
Nae1	T	C	8: 105,249,868 (GRCm39)		probably benign	Het
Nek4	C	T	14: 30,692,429 (GRCm39)	L293F	probably damaging	Het
Odf2l	C	T	3: 144,831,877 (GRCm39)	T44I	possibly damaging	Het
Or52s19	A	G	7: 103,007,948 (GRCm39)	V151A	possibly damaging	Het
Otog	G	A	7: 45,915,360 (GRCm39)		probably benign	Het
Ppp1r21	C	T	17: 88,873,117 (GRCm39)	T425I	possibly damaging	Het
Prrc2b	A	G	2: 32,120,672 (GRCm39)	E2204G	probably damaging	Het
Prrc2c	A	C	1: 162,532,883 (GRCm39)		probably benign	Het
Ptgs2	T	C	1: 149,980,028 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,371,455 (GRCm39)	V197E	probably damaging	Het
Syne3	A	G	12: 104,913,183 (GRCm39)	W593R	possibly damaging	Het
Tmem63a	A	T	1: 180,800,298 (GRCm39)	T696S	probably benign	Het
Tnks2	A	G	19: 36,826,758 (GRCm39)	D165G	possibly damaging	Het
Trim43a	T	C	9: 88,470,240 (GRCm39)	W349R	probably damaging	Het
Unc45b	T	C	11: 82,820,393 (GRCm39)		probably benign	Het
Vmn1r4	T	A	6: 56,933,947 (GRCm39)	N150K	probably damaging	Het
Wdfy4	C	A	14: 32,805,769 (GRCm39)		probably benign	Het
Wdr77	T	A	3: 105,867,342 (GRCm39)	D63E	probably damaging	Het
Zan	T	C	5: 137,463,164 (GRCm39)	T672A	unknown	Het
Zdhhc17	A	T	10: 110,817,851 (GRCm39)		probably null	Het

Other mutations in Exd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Exd2	APN	12	80,522,940 (GRCm39)	missense	probably damaging	1.00
IGL00546:Exd2	APN	12	80,527,321 (GRCm39)	missense	probably benign	0.05
IGL02964:Exd2	APN	12	80,527,302 (GRCm39)	missense	probably damaging	0.99
IGL03036:Exd2	APN	12	80,536,185 (GRCm39)	missense	probably damaging	1.00
R0304:Exd2	UTSW	12	80,538,014 (GRCm39)	unclassified	probably benign
R1290:Exd2	UTSW	12	80,531,100 (GRCm39)	missense	probably benign	0.00
R1772:Exd2	UTSW	12	80,536,253 (GRCm39)	missense	probably benign	0.00
R2102:Exd2	UTSW	12	80,527,377 (GRCm39)	missense	possibly damaging	0.78
R2104:Exd2	UTSW	12	80,543,575 (GRCm39)	missense	probably benign	0.01
R2408:Exd2	UTSW	12	80,531,015 (GRCm39)	splice site	probably benign
R3693:Exd2	UTSW	12	80,527,467 (GRCm39)	missense	probably damaging	1.00
R4748:Exd2	UTSW	12	80,527,350 (GRCm39)	missense	probably damaging	1.00
R4773:Exd2	UTSW	12	80,522,592 (GRCm39)	missense	possibly damaging	0.46
R5022:Exd2	UTSW	12	80,543,564 (GRCm39)	missense	probably damaging	1.00
R5057:Exd2	UTSW	12	80,543,564 (GRCm39)	missense	probably damaging	1.00
R5179:Exd2	UTSW	12	80,531,118 (GRCm39)	missense	probably damaging	1.00
R5377:Exd2	UTSW	12	80,536,222 (GRCm39)	missense	probably damaging	1.00
R7246:Exd2	UTSW	12	80,527,309 (GRCm39)	missense	probably damaging	1.00
R7761:Exd2	UTSW	12	80,522,546 (GRCm39)	missense	probably damaging	0.98
R7776:Exd2	UTSW	12	80,539,334 (GRCm39)	missense	probably damaging	1.00
R8032:Exd2	UTSW	12	80,536,427 (GRCm39)	missense	probably benign	0.00
R8420:Exd2	UTSW	12	80,522,771 (GRCm39)	missense	probably benign
R8559:Exd2	UTSW	12	80,522,631 (GRCm39)	missense	probably benign	0.00
R9064:Exd2	UTSW	12	80,531,148 (GRCm39)	critical splice donor site	probably null
R9173:Exd2	UTSW	12	80,536,236 (GRCm39)	missense	probably benign	0.00
R9274:Exd2	UTSW	12	80,539,674 (GRCm39)	critical splice donor site	probably null
R9674:Exd2	UTSW	12	80,536,372 (GRCm39)	missense	probably benign	0.00
RF013:Exd2	UTSW	12	80,522,706 (GRCm39)	frame shift	probably null
RF015:Exd2	UTSW	12	80,522,691 (GRCm39)	intron	probably benign
RF022:Exd2	UTSW	12	80,522,691 (GRCm39)	intron	probably benign
RF023:Exd2	UTSW	12	80,522,689 (GRCm39)	intron	probably benign
RF025:Exd2	UTSW	12	80,522,729 (GRCm39)	intron	probably benign
RF029:Exd2	UTSW	12	80,522,720 (GRCm39)	frame shift	probably null
RF035:Exd2	UTSW	12	80,522,729 (GRCm39)	intron	probably benign
RF035:Exd2	UTSW	12	80,522,674 (GRCm39)	intron	probably benign
RF039:Exd2	UTSW	12	80,522,715 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AACTCACTTGCCAGTGCCTCAGTC -3'
(R):5'- TGCAAGCAGAGAACTCCAGCTTATG -3'

Sequencing Primer
(F):5'- TGCCTCAGTCCATGAGGATAAG -3'
(R):5'- GCTTATGACTACCCAGCCCG -3'

Posted On

2013-05-23