Mutagenetix > Incidental Mutation

Incidental Mutation 'RF023:Exd2'

604009

Institutional Source

Beutler Lab

Gene Symbol

Exd2

Ensembl Gene

ENSMUSG00000032705

Gene Name

exonuclease 3'-5' domain containing 2

Synonyms

4930539P14Rik, Exdl2

Accession Numbers

Essential gene?

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

Stock #

RF023 (G1)

Quality Score

123.467

Status

Not validated

Chromosome

Chromosomal Location

80509869-80544909 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

GCAGCAGCCGCAGCCACAGC to GCAGC at 80522689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151717 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000219272

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

96% (24/25)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,818 (GRCm39)		probably benign	Het
5430401F13Rik	AAAAACAGAAAGGAAAAGGTGGCCAG	AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,841 (GRCm39)		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,891,117 (GRCm39)		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arhgef5	T	A	6: 43,256,407 (GRCm39)	S1172T	probably damaging	Het
Bltp1	T	TTATTATTATTATTAG	3: 37,104,909 (GRCm39)		probably benign	Het
Cacna2d4	G	A	6: 119,245,191 (GRCm39)	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camk2b	T	C	11: 5,922,301 (GRCm39)	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,511,018 (GRCm39)		probably benign	Het
Cdhr3	G	T	12: 33,110,348 (GRCm39)	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,176,328 (GRCm39)	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,865,876 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,803,620 (GRCm39)	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,218,834 (GRCm39)			Het
Dnah11	T	A	12: 117,918,585 (GRCm39)	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,674,157 (GRCm39)		probably benign	Het
Efhd2	CCGCCG	CCGCCGGCGCCG	4: 141,602,073 (GRCm39)		probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,378 (GRCm39)		probably null	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,660 (GRCm39)		probably benign	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Herc1	G	C	9: 66,365,616 (GRCm39)	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644 (GRCm39)		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,179,969 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,019,867 (GRCm39)		probably null	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,020,007 (GRCm39)		probably benign	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,676,217 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,587 (GRCm39)		probably benign	Het
Lrch1	TGGTGGTG	T	14: 75,185,006 (GRCm39)		probably null	Het
Mgam	C	T	6: 40,657,642 (GRCm39)	T999I	probably benign	Het
Mrtfa	T	C	15: 80,900,057 (GRCm39)	E740G	probably damaging	Het
Nek1	A	G	8: 61,525,779 (GRCm39)		probably null	Het
Phactr2	T	A	10: 13,121,178 (GRCm39)	Q503H	probably benign	Het
Ptprd	T	C	4: 76,046,802 (GRCm39)	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,508,076 (GRCm39)	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,684,952 (GRCm39)		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,694,349 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rnpc3	A	T	3: 113,413,723 (GRCm39)	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 85,682,795 (GRCm39)		probably benign	Het
Sec31b	G	T	19: 44,524,226 (GRCm39)	A138D	probably damaging	Het
Syne1	A	T	10: 5,205,482 (GRCm39)	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,593,063 (GRCm39)		probably benign	Het
Tmtc3	T	C	10: 100,313,728 (GRCm39)	H48R	probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGATGCTGCT	15: 72,673,173 (GRCm39)		probably benign	Het
Trappc9	T	TGCTGCTGCTGCTGCC	15: 72,673,180 (GRCm39)		probably benign	Het
Vsig2	T	A	9: 37,450,559 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,300,255 (GRCm39)	T152A	probably benign	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
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
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'- GTAGGATCAGTGAAATGCTTTCC -3'
(R):5'- AGGGCTGGATTTGATTCCACTC -3'

Sequencing Primer
(F):5'- TGCTTTCCTAAAAAGTGAAAGGC -3'
(R):5'- TGAGATACCGTCACCACCTCTG -3'

Posted On

2019-12-04