Mutagenetix > Incidental Mutation

Incidental Mutation 'RF029:Exd2'

604284

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: 0.116) question?

Stock #

RF029 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

80463095-80500227 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCACAGC to CC at 80475946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043049 (fasta)

Gene Model

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	GGTGGCCAG	GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG	6: 131,552,895		probably benign	Het
Abca17	T	TCCCTC	17: 24,287,727		probably benign	Het
Amot	GGAGCAGCAA	G	X: 145,450,988		probably benign	Het
C1s1	CCCATGGCTC	CC	6: 124,541,351		probably null	Het
Cacna1a	CCA	CCAACA	8: 84,638,724		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,026		probably benign	Het
Cyb5r4	CAGA	CAGAGACACTGACCAGGGATGTGATAGA	9: 87,040,430		probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACAGACACACTGCACAGGGA	9: 87,040,442		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Dnmt1	CGGAGCACAGTTCCTACCTCGTT	CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT	9: 20,910,123		probably null	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Fam171b	GCAGC	GCAGCATCAGC	2: 83,812,892		probably benign	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTTCGTGTGCTGGT	5: 110,378,139		probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008		probably null	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 72,270,059		probably benign	Het
Gm47955	G	GTTGTGGCTT	1: 82,960,527		probably benign	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Hic1	CGGGGGGGGGG	CGGGGGGG	11: 75,169,442		probably benign	Het
Ifi208	AGATG	AG	1: 173,677,696		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Krtap28-10	CACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCAC	1: 83,042,270		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 181,697,579		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,697,588		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA	2: 119,627,594		probably benign	Het
Nusap1	CTGAGA	CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA	2: 119,627,605		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444		probably null	Het
Rasa2	CGC	CGCAGC	9: 96,631,467		probably benign	Het
Rbm12	TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 156,096,095		probably benign	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,707,966		probably null	Het
Tcof1	CAG	CAGAAG	18: 60,835,735		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,835,745		probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCT	15: 72,801,323		probably benign	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092		probably benign	Het
Znrd1as	CG	CCACCACCACCACCCCCCCCAGG	17: 36,965,071		probably benign	Het

Other mutations in Exd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Exd2	APN	12	80476166	missense	probably damaging	1.00
IGL00546:Exd2	APN	12	80480547	missense	probably benign	0.05
IGL02964:Exd2	APN	12	80480528	missense	probably damaging	0.99
IGL03036:Exd2	APN	12	80489411	missense	probably damaging	1.00
R0304:Exd2	UTSW	12	80491240	unclassified	probably benign
R0436:Exd2	UTSW	12	80490770	splice site	probably benign
R1290:Exd2	UTSW	12	80484326	missense	probably benign	0.00
R1772:Exd2	UTSW	12	80489479	missense	probably benign	0.00
R2102:Exd2	UTSW	12	80480603	missense	possibly damaging	0.78
R2104:Exd2	UTSW	12	80496801	missense	probably benign	0.01
R2408:Exd2	UTSW	12	80484241	splice site	probably benign
R3693:Exd2	UTSW	12	80480693	missense	probably damaging	1.00
R4748:Exd2	UTSW	12	80480576	missense	probably damaging	1.00
R4773:Exd2	UTSW	12	80475818	missense	possibly damaging	0.46
R5022:Exd2	UTSW	12	80496790	missense	probably damaging	1.00
R5057:Exd2	UTSW	12	80496790	missense	probably damaging	1.00
R5179:Exd2	UTSW	12	80484344	missense	probably damaging	1.00
R5377:Exd2	UTSW	12	80489448	missense	probably damaging	1.00
R7246:Exd2	UTSW	12	80480535	missense	probably damaging	1.00
R7761:Exd2	UTSW	12	80475772	missense	probably damaging	0.98
R7776:Exd2	UTSW	12	80492560	missense	probably damaging	1.00
R8032:Exd2	UTSW	12	80489653	missense	probably benign	0.00
R8420:Exd2	UTSW	12	80475997	missense	probably benign
R8559:Exd2	UTSW	12	80475857	missense	probably benign	0.00
R9064:Exd2	UTSW	12	80484374	critical splice donor site	probably null
R9173:Exd2	UTSW	12	80489462	missense	probably benign	0.00
R9274:Exd2	UTSW	12	80492900	critical splice donor site	probably null
R9674:Exd2	UTSW	12	80489598	missense	probably benign	0.00
RF013:Exd2	UTSW	12	80475932	frame shift	probably null
RF015:Exd2	UTSW	12	80475917	intron	probably benign
RF022:Exd2	UTSW	12	80475917	intron	probably benign
RF023:Exd2	UTSW	12	80475915	intron	probably benign
RF025:Exd2	UTSW	12	80475955	intron	probably benign
RF035:Exd2	UTSW	12	80475900	intron	probably benign
RF035:Exd2	UTSW	12	80475955	intron	probably benign
RF039:Exd2	UTSW	12	80475941	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAGGATCAGTGAAATGCTTTCC -3'
(R):5'- GCTGGATTTGATTCCACTCTGC -3'

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

Posted On

2019-12-04