Mutagenetix > Incidental Mutation

Incidental Mutation 'R9390:Exd1'

710525

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 #

R9390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119346986-119378108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119354180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 293 (W293R)

Ref Sequence

ENSEMBL: ENSMUSP00000054980 (fasta)

Gene Model

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

AlphaFold

Q8CDF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000060009
AA Change: W293R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: W293R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171024
AA Change: W293R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: W293R

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	T	16: 90,853,096 (GRCm39)	S13R	probably benign	Het
Amn1	A	T	6: 149,084,983 (GRCm39)	D32E	probably damaging	Het
Asph	T	C	4: 9,635,927 (GRCm39)	D108G	probably damaging	Het
C1rb	T	C	6: 124,557,336 (GRCm39)	L491P	probably damaging	Het
Cep120	G	A	18: 53,839,984 (GRCm39)	R759*	probably null	Het
Chmp6	C	T	11: 119,806,288 (GRCm39)	T38M	possibly damaging	Het
Comtd1	A	G	14: 21,898,867 (GRCm39)	F25S	possibly damaging	Het
Dthd1	G	A	5: 62,975,904 (GRCm39)	G193R	possibly damaging	Het
Dyrk1a	T	A	16: 94,474,330 (GRCm39)	S362R	probably damaging	Het
Ecm2	A	G	13: 49,683,792 (GRCm39)	D590G	probably benign	Het
Fam110a	C	T	2: 151,812,116 (GRCm39)	R218Q	probably benign	Het
Fga	A	T	3: 82,940,610 (GRCm39)	N755Y	probably damaging	Het
Fstl4	C	A	11: 52,891,102 (GRCm39)	T80K	probably benign	Het
Gbp5	A	G	3: 142,208,783 (GRCm39)	K109E	probably benign	Het
Gucy2g	A	G	19: 55,190,607 (GRCm39)	V1009A	probably null	Het
Herc6	C	T	6: 57,602,955 (GRCm39)	Q545*	probably null	Het
Hpd	T	A	5: 123,318,794 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Inpp4b	T	C	8: 82,497,522 (GRCm39)	V114A	probably damaging	Het
Ints14	A	G	9: 64,891,314 (GRCm39)	T432A	probably benign	Het
Isoc1	G	A	18: 58,804,350 (GRCm39)	R126H	probably damaging	Het
Klb	G	T	5: 65,533,044 (GRCm39)	R451L	possibly damaging	Het
Lrtm2	C	T	6: 119,297,948 (GRCm39)	C31Y	probably benign	Het
Mga	C	T	2: 119,794,332 (GRCm39)	S2672F	probably damaging	Het
Mkrn3	T	C	7: 62,069,288 (GRCm39)	I168V	probably benign	Het
Mlph	C	T	1: 90,867,088 (GRCm39)	T370I	probably benign	Het
Naaladl1	A	T	19: 6,162,725 (GRCm39)	I478F	probably damaging	Het
Neb	A	T	2: 52,065,157 (GRCm39)	H6251Q	probably benign	Het
Nom1	C	T	5: 29,639,766 (GRCm39)	R31C	probably benign	Het
Nup153	A	C	13: 46,840,642 (GRCm39)	F989V	probably damaging	Het
Nup188	T	C	2: 30,220,777 (GRCm39)		probably null	Het
Or4c12	T	C	2: 89,773,569 (GRCm39)	K297E	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c210	A	G	10: 129,495,938 (GRCm39)	T88A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcare	T	C	17: 72,057,983 (GRCm39)	T565A	probably benign	Het
Pcdhb4	T	C	18: 37,442,781 (GRCm39)	V697A	possibly damaging	Het
Pds5a	G	T	5: 65,823,600 (GRCm39)	Q64K	probably benign	Het
Pmpcb	T	C	5: 21,953,810 (GRCm39)	F353L	probably damaging	Het
Pus10	G	A	11: 23,656,937 (GRCm39)	C221Y	probably damaging	Het
Qrfp	A	G	2: 31,698,749 (GRCm39)	V61A	possibly damaging	Het
Runx1t1	A	G	4: 13,865,932 (GRCm39)	I393M	probably benign	Het
Sh2d5	T	G	4: 137,985,481 (GRCm39)	S310A	probably benign	Het
Shisa9	A	G	16: 12,085,408 (GRCm39)	E339G	possibly damaging	Het
Slc26a10	C	T	10: 127,009,239 (GRCm39)	E641K	probably benign	Het
Slc5a6	A	G	5: 31,197,803 (GRCm39)	V302A	possibly damaging	Het
Tdrd7	T	A	4: 46,005,416 (GRCm39)	D407E	probably damaging	Het
Trp53	A	T	11: 69,478,394 (GRCm39)	Q101L	probably benign	Het
Tsc2	T	A	17: 24,823,824 (GRCm39)	N994Y	probably damaging	Het
Ttc16	T	G	2: 32,657,195 (GRCm39)	K577Q	possibly damaging	Het
Vmn1r195	A	G	13: 22,462,535 (GRCm39)	I2V	probably benign	Het
Vmn2r83	G	T	10: 79,317,322 (GRCm39)	E522*	probably null	Het
Wdr48	T	A	9: 119,746,245 (GRCm39)	F450L	probably benign	Het
Wnt9a	G	A	11: 59,218,592 (GRCm39)	E100K	possibly damaging	Het
Zfp729b	A	T	13: 67,739,182 (GRCm39)	S1028T	probably benign	Het
Zfp729b	C	T	13: 67,742,014 (GRCm39)	V84I	possibly damaging	Het

Other mutations in Exd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Exd1	APN	2	119,360,560 (GRCm39)	splice site	probably benign
IGL02032:Exd1	APN	2	119,363,948 (GRCm39)	missense	probably damaging	1.00
IGL02040:Exd1	APN	2	119,370,546 (GRCm39)	missense	possibly damaging	0.79
IGL02831:Exd1	APN	2	119,359,235 (GRCm39)	missense	probably damaging	1.00
IGL03008:Exd1	APN	2	119,350,862 (GRCm39)	missense	probably benign	0.01
R0350:Exd1	UTSW	2	119,354,047 (GRCm39)	missense	possibly damaging	0.64
R1423:Exd1	UTSW	2	119,370,494 (GRCm39)	splice site	probably benign
R1466:Exd1	UTSW	2	119,351,215 (GRCm39)	splice site	probably benign
R1524:Exd1	UTSW	2	119,355,155 (GRCm39)	missense	probably damaging	0.98
R2011:Exd1	UTSW	2	119,359,144 (GRCm39)	intron	probably benign
R2026:Exd1	UTSW	2	119,350,786 (GRCm39)	missense	probably benign
R4711:Exd1	UTSW	2	119,369,232 (GRCm39)	missense	possibly damaging	0.91
R4827:Exd1	UTSW	2	119,350,807 (GRCm39)	missense	probably benign
R4828:Exd1	UTSW	2	119,350,807 (GRCm39)	missense	probably benign
R4829:Exd1	UTSW	2	119,350,807 (GRCm39)	missense	probably benign
R4830:Exd1	UTSW	2	119,350,807 (GRCm39)	missense	probably benign
R5799:Exd1	UTSW	2	119,369,262 (GRCm39)	missense	probably benign	0.01
R6570:Exd1	UTSW	2	119,350,654 (GRCm39)	missense	probably benign
R6654:Exd1	UTSW	2	119,355,198 (GRCm39)	critical splice acceptor site	probably null
R6907:Exd1	UTSW	2	119,363,957 (GRCm39)	missense	probably damaging	1.00
R7325:Exd1	UTSW	2	119,350,620 (GRCm39)	missense	probably benign	0.28
R7684:Exd1	UTSW	2	119,350,684 (GRCm39)	missense	probably damaging	1.00
R7921:Exd1	UTSW	2	119,360,580 (GRCm39)	missense	probably damaging	0.99
R8029:Exd1	UTSW	2	119,359,204 (GRCm39)	missense	probably damaging	1.00
R8428:Exd1	UTSW	2	119,369,348 (GRCm39)	missense	possibly damaging	0.80
R8516:Exd1	UTSW	2	119,350,554 (GRCm39)	missense	probably damaging	0.97
R9136:Exd1	UTSW	2	119,359,385 (GRCm39)	missense	probably damaging	1.00
R9451:Exd1	UTSW	2	119,355,064 (GRCm39)	missense	possibly damaging	0.91
R9655:Exd1	UTSW	2	119,350,855 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCTCCGTGTTCAAGGTGAGG -3'
(R):5'- GCTCAGAAGGCCACAGATATG -3'

Sequencing Primer
(F):5'- CTCCGTGTTCAAGGTGAGGAAGAG -3'
(R):5'- CAGGATTTCTTTATGTAGCCTTGGC -3'

Posted On

2022-04-18