Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Exd1'

714236

Institutional Source

Beutler Lab

Gene Symbol

Exd1

Ensembl Gene

ENSMUSG00000048647

Gene Name

exonuclease 3'-5' domain containing 1

Synonyms

Exdl1, 4932702D22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119516505-119547627 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119524583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 284 (K284E)

Ref Sequence

ENSEMBL: ENSMUSP00000054980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060009] [ENSMUST00000171024]

AlphaFold

Q8CDF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060009
AA Change: K284E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: K284E

Domain	Start	End	E-Value	Type
low complexity region	73	84	N/A	INTRINSIC
35EXOc	134	325	2.29e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171024
AA Change: K284E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: K284E

Domain	Start	End	E-Value	Type
low complexity region	73	84	N/A	INTRINSIC
35EXOc	134	325	2.29e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (73/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are fertile and viable, but exhibit defective biogenesis of antisense piRNAs and activation of transposons in male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	G	17: 23,717,213	Y19H	unknown	Het
Aldh8a1	T	A	10: 21,389,133	S220T	probably benign	Het
Ankrd66	A	G	17: 43,534,920	V192A	probably benign	Het
Atp1a2	A	G	1: 172,275,927	Y1009H	probably benign	Het
BC005561	C	A	5: 104,520,778	S1055R	probably benign	Het
Bptf	A	C	11: 107,044,585	M142R	probably damaging	Het
Brwd1	C	T	16: 96,044,503	R740Q	probably damaging	Het
C3	A	G	17: 57,224,169	M339T	probably benign	Het
Catsperg1	A	G	7: 29,198,347		probably null	Het
Cep295nl	T	A	11: 118,333,620	K133*	probably null	Het
Copg2	A	T	6: 30,816,851		probably benign	Het
Coro7	A	T	16: 4,670,538	D89E	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,627,144	R826L	probably damaging	Het
Dlg4	G	T	11: 70,031,239	K162N	probably damaging	Het
Dna2	T	A	10: 62,954,293	L185H	probably benign	Het
Dock9	C	T	14: 121,550,189		probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Etl4	A	G	2: 20,809,115	I1322V	probably benign	Het
Flnc	A	G	6: 29,445,463	T786A	probably damaging	Het
Gm21671	T	A	5: 25,951,571	K137*	probably null	Het
Gm29106	A	C	1: 118,199,914	E445D	possibly damaging	Het
Gm5592	T	C	7: 41,286,452	L126P	probably damaging	Het
Gtf3c2	T	G	5: 31,168,429	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,327,841	R669S	probably benign	Het
Hivep1	A	G	13: 42,183,776	T2444A	probably benign	Het
Hspg2	A	G	4: 137,511,069	E289G	probably damaging	Het
Htatip2	C	A	7: 49,759,239	T9K	unknown	Het
Ifngr1	T	C	10: 19,607,293	V265A	possibly damaging	Het
Ift140	A	G	17: 25,033,951	N359D	probably benign	Het
Mat1a	A	G	14: 41,114,846	R178G	probably damaging	Het
Mknk2	C	T	10: 80,669,662	R154H	probably benign	Het
Myh14	C	T	7: 44,624,319		probably null	Het
Myof	A	G	19: 37,977,648		probably null	Het
Nfe2l1	G	T	11: 96,827,627	D27E	probably damaging	Het
Olfr1234	A	T	2: 89,362,899	C177S	probably damaging	Het
Olfr1301	T	C	2: 111,754,873	V208A	probably benign	Het
Olfr1378	A	G	11: 50,969,123	Y35C		Het
Olfr284	A	G	15: 98,340,263	V242A	possibly damaging	Het
Olfr485	A	G	7: 108,159,261	V204A	probably benign	Het
Plec	C	A	15: 76,183,787	Q1139H	unknown	Het
Plxna2	T	A	1: 194,644,384	S209T	probably benign	Het
Plxnd1	T	C	6: 115,963,316	E1369G	possibly damaging	Het
Psd3	T	C	8: 67,910,835	I3V	unknown	Het
Pwp1	T	A	10: 85,878,564	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,939,449	M1I	probably null	Het
Rad54l2	T	C	9: 106,708,289	K759R	probably benign	Het
Rims2	G	T	15: 39,437,328	V344L	probably damaging	Het
Robo1	G	A	16: 73,006,830	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,440,825		probably benign	Het
Serhl	A	C	15: 83,102,966	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,255,029		probably null	Het
Slc27a1	T	A	8: 71,580,164	Y248*	probably null	Het
Slitrk3	T	A	3: 73,051,283	E52V	possibly damaging	Het
Snx2	T	C	18: 53,210,343	V271A	probably benign	Het
Snx9	C	A	17: 5,899,493	P156Q	probably damaging	Het
Spag6	C	A	2: 18,710,558	Y71*	probably null	Het
Speg	A	G	1: 75,417,733	D1724G	probably damaging	Het
Svs1	A	G	6: 48,988,840	Y594C	probably damaging	Het
Syt7	A	G	19: 10,444,168	N572S	probably damaging	Het
Ticam2	A	G	18: 46,560,699	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,570,019	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663	T519A	possibly damaging	Het
Trim43b	G	A	9: 89,091,555	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,944,773	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,072	D97G	probably benign	Het
Uncx	A	G	5: 139,546,720	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,733,393	T552A	probably damaging	Het
Vmn2r51	A	T	7: 10,099,889	H407Q	probably damaging	Het
Wdfy4	C	T	14: 33,133,561	E699K		Het
Wdr95	A	G	5: 149,580,700	T324A	probably benign	Het

Other mutations in Exd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Exd1	APN	2	119530079	splice site	probably benign
IGL02032:Exd1	APN	2	119533467	missense	probably damaging	1.00
IGL02040:Exd1	APN	2	119540065	missense	possibly damaging	0.79
IGL02831:Exd1	APN	2	119528754	missense	probably damaging	1.00
IGL03008:Exd1	APN	2	119520381	missense	probably benign	0.01
R0350:Exd1	UTSW	2	119523566	missense	possibly damaging	0.64
R1423:Exd1	UTSW	2	119540013	splice site	probably benign
R1466:Exd1	UTSW	2	119520734	splice site	probably benign
R1524:Exd1	UTSW	2	119524674	missense	probably damaging	0.98
R2011:Exd1	UTSW	2	119528663	intron	probably benign
R2026:Exd1	UTSW	2	119520305	missense	probably benign
R4711:Exd1	UTSW	2	119538751	missense	possibly damaging	0.91
R4827:Exd1	UTSW	2	119520326	missense	probably benign
R4828:Exd1	UTSW	2	119520326	missense	probably benign
R4829:Exd1	UTSW	2	119520326	missense	probably benign
R4830:Exd1	UTSW	2	119520326	missense	probably benign
R5799:Exd1	UTSW	2	119538781	missense	probably benign	0.01
R6570:Exd1	UTSW	2	119520173	missense	probably benign
R6654:Exd1	UTSW	2	119524717	critical splice acceptor site	probably null
R6907:Exd1	UTSW	2	119533476	missense	probably damaging	1.00
R7325:Exd1	UTSW	2	119520139	missense	probably benign	0.28
R7684:Exd1	UTSW	2	119520203	missense	probably damaging	1.00
R7921:Exd1	UTSW	2	119530099	missense	probably damaging	0.99
R8029:Exd1	UTSW	2	119528723	missense	probably damaging	1.00
R8428:Exd1	UTSW	2	119538867	missense	possibly damaging	0.80
R8516:Exd1	UTSW	2	119520073	missense	probably damaging	0.97
R9136:Exd1	UTSW	2	119528904	missense	probably damaging	1.00
R9390:Exd1	UTSW	2	119523699	missense	probably damaging	1.00
R9655:Exd1	UTSW	2	119520374	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTAAGGTGATTTTGGTTCCAATGTC -3'
(R):5'- TACCTCTGATGTGAGATCCTTATCTG -3'

Sequencing Primer
(F):5'- TGGTTCCAATGTCTTAATTGACTAC -3'
(R):5'- ACCTAATCCTCTTTTGTTGTTGTGTG -3'

Posted On

2022-06-15