Mutagenetix > Incidental Mutation

Incidental Mutation 'R5799:Exd1'

447385

Institutional Source

Beutler Lab

Gene Symbol

Exd1

Ensembl Gene

ENSMUSG00000048647

Gene Name

exonuclease 3'-5' domain containing 1

Synonyms

Exdl1, 4932702D22Rik

MMRRC Submission

043388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119346986-119378108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119369262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 118 (S118P)

Ref Sequence

ENSEMBL: ENSMUSP00000126713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060009] [ENSMUST00000133668] [ENSMUST00000171024]

AlphaFold

Q8CDF7

Predicted Effect

probably benign
Transcript: ENSMUST00000060009
AA Change: S118P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000054980
Gene: ENSMUSG00000048647
AA Change: S118P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133668

SMART Domains

Protein: ENSMUSP00000116082
Gene: ENSMUSG00000048647

Domain	Start	End	E-Value	Type
low complexity region	73	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171024
AA Change: S118P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126713
Gene: ENSMUSG00000048647
AA Change: S118P

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

Meta Mutation Damage Score

0.0782

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

89% (51/57)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,668,908 (GRCm39)	Q92*	probably null	Het
Accsl	T	C	2: 93,694,748 (GRCm39)		probably null	Het
Ahnak2	T	C	12: 112,745,365 (GRCm39)		probably benign	Het
Alcam	T	C	16: 52,130,212 (GRCm39)	D46G	probably benign	Het
Asap2	T	C	12: 21,218,247 (GRCm39)	S57P	probably damaging	Het
Atg14	A	T	14: 47,784,752 (GRCm39)	V314D	possibly damaging	Het
C230029F24Rik	C	T	1: 49,377,307 (GRCm39)		noncoding transcript	Het
Calcr	A	T	6: 3,707,592 (GRCm39)	I236N	probably benign	Het
Cass4	G	A	2: 172,258,107 (GRCm39)	G35E	probably damaging	Het
Chmp6	T	C	11: 119,807,517 (GRCm39)	I120T	probably benign	Het
Col13a1	A	G	10: 61,684,919 (GRCm39)		probably benign	Het
Cstdc4	T	A	16: 36,004,631 (GRCm39)	M1K	probably null	Het
Ddhd2	T	A	8: 26,238,629 (GRCm39)	L328F	probably damaging	Het
Defa40	T	A	8: 21,740,359 (GRCm39)		probably null	Het
Dnmt3l	A	G	10: 77,887,860 (GRCm39)	D123G	possibly damaging	Het
Eea1	T	A	10: 95,838,810 (GRCm39)	V287E	possibly damaging	Het
Efcc1	A	G	6: 87,708,164 (GRCm39)	N97S	probably benign	Het
Ext2	G	T	2: 93,642,317 (GRCm39)	T184K	probably benign	Het
Fam186a	G	A	15: 99,864,705 (GRCm39)	Q42*	probably null	Het
Gbp2	A	T	3: 142,337,843 (GRCm39)	I320L	probably benign	Het
Gramd2a	G	A	9: 59,615,299 (GRCm39)	G13R	probably benign	Het
H2-Q5	T	C	17: 35,613,115 (GRCm39)	M5T	unknown	Het
Jak3	C	T	8: 72,131,344 (GRCm39)	L70F	probably damaging	Het
Lhpp	G	A	7: 132,307,364 (GRCm39)	V254M	probably damaging	Het
Lig1	T	A	7: 13,030,184 (GRCm39)	V387E	possibly damaging	Het
Lipo3	T	C	19: 33,755,093 (GRCm39)		probably benign	Het
Lrrc8b	C	T	5: 105,629,208 (GRCm39)	S518L	probably benign	Het
Narf	T	C	11: 121,135,480 (GRCm39)	Y111H	probably damaging	Het
Ncf4	A	G	15: 78,135,177 (GRCm39)	K78R	probably benign	Het
Nrap	A	T	19: 56,330,601 (GRCm39)	C1118*	probably null	Het
Nubp2	A	G	17: 25,104,772 (GRCm39)	V23A	probably damaging	Het
Or4l1	A	T	14: 50,166,497 (GRCm39)	F168Y	probably damaging	Het
Or6c219	A	T	10: 129,781,780 (GRCm39)	D50E	possibly damaging	Het
Or8g55	T	C	9: 39,785,392 (GRCm39)	S274P	possibly damaging	Het
Pdzd7	G	A	19: 45,025,428 (GRCm39)	P356S	probably benign	Het
Rttn	T	C	18: 89,056,070 (GRCm39)	V984A	probably damaging	Het
Ryr3	A	G	2: 112,516,925 (GRCm39)	S3334P	probably damaging	Het
Senp7	G	A	16: 55,959,468 (GRCm39)		probably null	Het
Slc25a3	A	C	10: 90,957,903 (GRCm39)	Y50D	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	T	15: 96,592,970 (GRCm39)	S163T	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stam2	A	T	2: 52,610,922 (GRCm39)	C4*	probably null	Het
Taf1a	A	G	1: 183,177,272 (GRCm39)	D50G	possibly damaging	Het
Taf6l	A	T	19: 8,759,995 (GRCm39)	Y106N	possibly damaging	Het
Taf7l2	T	C	10: 115,948,674 (GRCm39)	E284G	probably damaging	Het
Tbx20	G	A	9: 24,636,816 (GRCm39)	Q424*	probably null	Het
Tex10	A	G	4: 48,433,295 (GRCm39)	V829A	possibly damaging	Het
Tgfbr3	T	C	5: 107,257,474 (GRCm39)		probably benign	Het
Tnfsf10	G	T	3: 27,389,742 (GRCm39)	V268F	probably damaging	Het
Trrap	A	G	5: 144,767,755 (GRCm39)	T2571A	probably benign	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
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
R9390:Exd1	UTSW	2	119,354,180 (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'- CCCATGTCAACTGAACATGTAC -3'
(R):5'- CAAACTGTGTGTTCGAGCAG -3'

Sequencing Primer
(F):5'- CCTGGAATTCACTTTGTAGACCAGG -3'
(R):5'- TCGAGCAGTGGAGAGTGTC -3'

Posted On

2016-12-15