Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Aptx'

32304

Institutional Source

Beutler Lab

Gene Symbol

Aptx

Ensembl Gene

ENSMUSG00000028411

Gene Name

aprataxin

Synonyms

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0003 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40682382-40703194 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 40695145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030119] [ENSMUST00000068125] [ENSMUST00000108103] [ENSMUST00000129021] [ENSMUST00000155710]

AlphaFold

Q7TQC5

Predicted Effect

probably benign
Transcript: ENSMUST00000030119

SMART Domains

Protein: ENSMUSP00000030119
Gene: ENSMUSG00000028411

Domain	Start	End	E-Value	Type
PDB:3KT9\|A	1	101	2e-61	PDB
Blast:FHA	24	68	7e-18	BLAST
Pfam:DcpS_C	160	271	3.1e-36	PFAM
Pfam:HIT	167	262	9.2e-17	PFAM
ZnF_C2H2	310	332	2.71e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068125

SMART Domains

Protein: ENSMUSP00000124264
Gene: ENSMUSG00000028411

Domain	Start	End	E-Value	Type
PDB:3KT9\|A	8	108	2e-61	PDB
Blast:FHA	31	75	7e-18	BLAST
Pfam:DcpS_C	167	278	5.9e-37	PFAM
Pfam:HIT	174	269	1.3e-16	PFAM
ZnF_C2H2	317	339	2.71e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108103

SMART Domains

Protein: ENSMUSP00000103738
Gene: ENSMUSG00000028411

Domain	Start	End	E-Value	Type
Blast:FHA	24	59	4e-13	BLAST
Pfam:DcpS_C	65	176	2.2e-36	PFAM
Pfam:HIT	72	167	8.8e-17	PFAM
ZnF_C2H2	215	237	2.71e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128810

Predicted Effect

probably benign
Transcript: ENSMUST00000129021

Predicted Effect

probably benign
Transcript: ENSMUST00000155710

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.7%

Validation Efficiency

94% (82/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in single-strand DNA break repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,286,578	V1903E	possibly damaging	Het
Adam19	T	A	11: 46,128,789	C439S	probably damaging	Het
Adnp2	T	C	18: 80,130,990	Y68C	probably damaging	Het
Ahctf1	A	T	1: 179,763,473	D1247E	probably benign	Het
Alms1	T	A	6: 85,629,210	M2614K	possibly damaging	Het
Alx3	A	G	3: 107,604,976	H310R	probably damaging	Het
Ambra1	C	T	2: 91,911,428	T1016M	probably damaging	Het
Ankrd35	A	G	3: 96,684,015	E539G	probably damaging	Het
Arsi	C	T	18: 60,916,986	R314C	probably benign	Het
Atp1a3	T	C	7: 24,989,564		probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
BC067074	T	A	13: 113,368,776	S2146R	probably benign	Het
Bicra	G	T	7: 15,971,887	T1543K	probably benign	Het
Bzw2	A	C	12: 36,130,015	I71S	probably damaging	Het
Camk2a	C	T	18: 60,960,007	A302V	probably damaging	Het
Ccdc12	A	G	9: 110,656,597	E12G	possibly damaging	Het
Cd300lb	A	T	11: 114,928,338	F19Y	probably benign	Het
Clcn3	A	T	8: 60,927,296	C535*	probably null	Het
Cntnap5c	A	G	17: 58,199,017	T679A	probably benign	Het
Cpsf7	G	A	19: 10,539,629	S365N	possibly damaging	Het
Cyp20a1	T	C	1: 60,387,126		probably benign	Het
Decr2	A	T	17: 26,083,053	N234K	probably benign	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dnah12	T	C	14: 26,772,644	F1300L	probably damaging	Het
Dock1	T	C	7: 134,730,064		probably benign	Het
Dpy19l4	A	T	4: 11,267,619	N440K	probably damaging	Het
Eprs	T	C	1: 185,414,391	V1206A	probably damaging	Het
Exoc6b	A	G	6: 84,854,699		probably null	Het
Fam184b	A	G	5: 45,555,194		probably benign	Het
Fcho1	A	T	8: 71,708,953	S858T	probably damaging	Het
Fgfr1	A	G	8: 25,568,198	D430G	possibly damaging	Het
Fmnl3	T	C	15: 99,321,132	T807A	probably damaging	Het
Gabra5	T	C	7: 57,413,728	Y316C	probably damaging	Het
Gh	A	G	11: 106,301,520	L16P	probably damaging	Het
Glipr2	A	T	4: 43,970,532	I87F	probably damaging	Het
Glrb	T	A	3: 80,855,914	I259F	probably damaging	Het
Gpr63	T	C	4: 25,007,651	L125P	probably damaging	Het
Grb2	A	G	11: 115,655,425	Y37H	probably damaging	Het
Haus2	G	A	2: 120,618,968		probably benign	Het
Hmgcr	T	C	13: 96,652,145	N749S	probably damaging	Het
Igf1r	T	C	7: 68,165,242	V297A	probably damaging	Het
Il12rb2	G	T	6: 67,316,286	P69H	probably damaging	Het
Ints3	C	A	3: 90,408,511	M315I	probably benign	Het
Izumo2	C	T	7: 44,715,409	T116I	probably benign	Het
Kctd19	A	C	8: 105,395,361	Y185D	probably damaging	Het
Lama4	A	G	10: 39,060,222	N631S	possibly damaging	Het
Lama5	T	G	2: 180,178,079		probably null	Het
Lamc1	A	C	1: 153,262,439	L223R	probably damaging	Het
Lgr4	G	A	2: 109,997,665		probably null	Het
Loxhd1	T	C	18: 77,339,500	L398P	probably damaging	Het
Mapk9	T	A	11: 49,867,039	D103E	possibly damaging	Het
March6	T	C	15: 31,469,532		probably benign	Het
Mlxipl	G	A	5: 135,133,189		probably benign	Het
Mrgbp	C	A	2: 180,583,438	D62E	probably benign	Het
Mtap	A	T	4: 89,151,998		probably benign	Het
Myt1	G	A	2: 181,801,871	G497S	probably damaging	Het
Naa25	T	G	5: 121,407,184		probably benign	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nkpd1	T	C	7: 19,519,927	C73R	probably benign	Het
Nup210l	T	C	3: 90,119,911	I200T	probably damaging	Het
Nvl	C	A	1: 181,114,133	D581Y	probably damaging	Het
Olfr1102	T	A	2: 87,002,366	Y132*	probably null	Het
Olfr1500	T	C	19: 13,827,686	T237A	probably damaging	Het
Olfr568	T	C	7: 102,877,861	V247A	probably benign	Het
Olfr575	T	C	7: 102,954,978	M208V	probably benign	Het
Olfr905	A	G	9: 38,473,316	T190A	probably benign	Het
Pcdh7	G	T	5: 57,913,248	E1089D	probably benign	Het
Pik3cd	A	G	4: 149,656,379		probably null	Het
Plekhh2	A	T	17: 84,557,392	K69N	probably damaging	Het
Ptgdr2	G	A	19: 10,940,428	C103Y	probably damaging	Het
Rrad	A	C	8: 104,628,667	H236Q	probably benign	Het
Rslcan18	C	T	13: 67,098,469	A236T	probably benign	Het
Ryr2	C	A	13: 11,824,379	D503Y	probably damaging	Het
Siglec1	T	C	2: 131,075,060	T1092A	probably benign	Het
Siglecf	A	G	7: 43,355,926	T437A	probably benign	Het
Spta1	A	T	1: 174,205,273	Q965H	probably damaging	Het
Stk10	A	T	11: 32,589,460	E280V	probably benign	Het
Tfg	T	C	16: 56,690,988	Y326C	possibly damaging	Het
Tpp2	T	A	1: 43,960,139	S358T	possibly damaging	Het
Trim25	G	T	11: 89,015,772	V437L	probably benign	Het
Ttn	T	C	2: 76,743,683	D25622G	probably damaging	Het
Ube3b	T	A	5: 114,398,851	S303R	probably benign	Het
Ush2a	T	A	1: 188,578,491	V2088D	probably damaging	Het
Vmn2r103	A	G	17: 19,811,979	T672A	probably damaging	Het
Wdr11	G	T	7: 129,599,061	G79C	probably damaging	Het
Wdr89	T	A	12: 75,632,593	T296S	probably benign	Het
Zdhhc24	T	A	19: 4,880,374	L179M	possibly damaging	Het
Zfp981	T	C	4: 146,537,760	C381R	probably damaging	Het
Zim1	A	G	7: 6,676,948	I572T	probably benign	Het

Other mutations in Aptx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Aptx	APN	4	40688133	missense	probably damaging	1.00
IGL02419:Aptx	APN	4	40691032	missense	probably benign	0.01
IGL03188:Aptx	APN	4	40695143	splice site	probably null
IGL02991:Aptx	UTSW	4	40686687	missense	probably damaging	1.00
R1250:Aptx	UTSW	4	40693447	missense	probably benign	0.00
R1681:Aptx	UTSW	4	40697274	missense	probably benign	0.13
R2512:Aptx	UTSW	4	40694917	missense	probably benign	0.00
R3034:Aptx	UTSW	4	40694994	missense	probably benign	0.00
R4610:Aptx	UTSW	4	40702766	splice site	probably null
R6108:Aptx	UTSW	4	40694986	nonsense	probably null
R8136:Aptx	UTSW	4	40688107	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCACACTGTCATTACTGACTGCC -3'
(R):5'- TGATGAACGCTCCTCTGTCATGGG -3'

Sequencing Primer
(F):5'- CCAAGTGATTTTCAGGCCAC -3'
(R):5'- CTCCTCTGTCATGGGGAAGTG -3'

Posted On

2013-05-09