Mutagenetix > Incidental Mutation

Incidental Mutation 'R9064:Exd2'

689162

Institutional Source

Beutler Lab

Gene Symbol

Exd2

Ensembl Gene

ENSMUSG00000032705

Gene Name

exonuclease 3'-5' domain containing 2

Synonyms

4930539P14Rik, Exdl2

MMRRC Submission

068889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R9064 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80509869-80544909 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 80531148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038185] [ENSMUST00000219039] [ENSMUST00000219272]

AlphaFold

Q8VEG4

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000219039

Predicted Effect

probably benign
Transcript: ENSMUST00000219272

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,463,510 (GRCm39)	E598G	probably benign	Het
Adgrb3	T	C	1: 25,570,965 (GRCm39)	E504G	possibly damaging	Het
Ank3	T	C	10: 69,822,185 (GRCm39)	S285P		Het
Ankrd28	G	A	14: 31,454,005 (GRCm39)	H410Y	probably damaging	Het
Armh1	C	A	4: 117,094,855 (GRCm39)	V62L	probably benign	Het
Atp8b1	A	G	18: 64,697,491 (GRCm39)	I451T	probably benign	Het
C2cd3	A	G	7: 100,059,608 (GRCm39)	D245G		Het
Calr3	T	C	8: 73,188,674 (GRCm39)	K151R	possibly damaging	Het
Cenpq	G	A	17: 41,243,731 (GRCm39)	T39I	probably benign	Het
Cep126	T	C	9: 8,103,341 (GRCm39)	D223G	possibly damaging	Het
Chd2	A	T	7: 73,143,279 (GRCm39)	I538K	possibly damaging	Het
Cyp3a41b	C	T	5: 145,514,910 (GRCm39)	R105Q	probably damaging	Het
Dnah6	C	A	6: 73,126,156 (GRCm39)	R1327L	probably benign	Het
Fam118a	T	C	15: 84,930,039 (GRCm39)	V89A	probably damaging	Het
Fbxo40	A	T	16: 36,791,002 (GRCm39)	I36K	probably damaging	Het
Fntb	A	G	12: 76,934,640 (GRCm39)	N170S	probably benign	Het
Frzb	A	G	2: 80,277,052 (GRCm39)	S45P	probably benign	Het
Gm4841	T	C	18: 60,403,961 (GRCm39)	E44G	probably benign	Het
Hecw2	C	A	1: 53,866,045 (GRCm39)	A1539S	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kcnh5	A	T	12: 75,177,727 (GRCm39)	C126*	probably null	Het
Kdm5a	TAGAAGAAG	TAGAAG	6: 120,403,869 (GRCm39)		probably benign	Het
Kremen2	A	G	17: 23,961,736 (GRCm39)	L257P	possibly damaging	Het
Mcat	A	C	15: 83,432,134 (GRCm39)	F245V	probably damaging	Het
Mdm2	T	C	10: 117,538,235 (GRCm39)	I54M	probably benign	Het
Muc4	A	G	16: 32,754,397 (GRCm38)	T1424A	possibly damaging	Het
Mylk3	T	C	8: 86,081,940 (GRCm39)	T416A	probably benign	Het
Nol4	T	A	18: 22,903,850 (GRCm39)	D156V		Het
Nxpe4	T	C	9: 48,309,964 (GRCm39)	V409A	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	G	T	11: 58,899,935 (GRCm39)	T966K		Het
Or10j3b	C	T	1: 173,044,060 (GRCm39)	L281F	possibly damaging	Het
Or10w1	G	A	19: 13,632,719 (GRCm39)	V309M	possibly damaging	Het
Or14c42-ps1	A	G	7: 86,211,371 (GRCm39)	T144A	unknown	Het
Phip	C	T	9: 82,753,540 (GRCm39)	V1735I	probably benign	Het
Pkhd1l1	A	T	15: 44,426,038 (GRCm39)	T3200S	possibly damaging	Het
Prdm4	T	C	10: 85,737,678 (GRCm39)	N496S	probably damaging	Het
Proser1	C	T	3: 53,384,927 (GRCm39)	L270F	probably damaging	Het
Psmd11	T	C	11: 80,336,069 (GRCm39)	V107A	probably damaging	Het
Rassf10	A	T	7: 112,554,315 (GRCm39)	E305D	probably benign	Het
Rbm45	T	C	2: 76,202,446 (GRCm39)	I123T	probably damaging	Het
Rpp25	G	T	9: 57,411,635 (GRCm39)	R39L	probably damaging	Het
Rreb1	A	G	13: 38,115,326 (GRCm39)	N895S	possibly damaging	Het
Sirpa	A	T	2: 129,458,460 (GRCm39)	S359C	possibly damaging	Het
Slc26a9	T	A	1: 131,680,703 (GRCm39)	C83S	probably benign	Het
Spink5	T	G	18: 44,100,193 (GRCm39)	L70R	probably damaging	Het
Stil	T	G	4: 114,898,932 (GRCm39)	N1187K	probably benign	Het
Sucla2	A	T	14: 73,828,303 (GRCm39)	E303D	probably benign	Het
Supt3	G	A	17: 45,305,295 (GRCm39)		probably null	Het
Tmc5	G	T	7: 118,233,270 (GRCm39)	S28I	probably benign	Het
Vps8	T	C	16: 21,288,979 (GRCm39)	V444A	probably damaging	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
R0436:Exd2	UTSW	12	80,537,544 (GRCm39)	splice site	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
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'- GCCATTTGCCTGGTTTTGATAC -3'
(R):5'- TGGTCACCTCTGGGTAGAAG -3'

Sequencing Primer
(F):5'- TTCCCACTTGACAAGTCC -3'
(R):5'- CAGAGAACTGCTTACTGTTTCTTATG -3'

Posted On

2021-11-19