Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Aplf'

515311

Institutional Source

Beutler Lab

Gene Symbol

Aplf

Ensembl Gene

ENSMUSG00000030051

Gene Name

aprataxin and PNKP like factor

Synonyms

2010301N04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87628424-87672193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87658977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 118 (M118K)

Ref Sequence

ENSEMBL: ENSMUSP00000032130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032130] [ENSMUST00000065997] [ENSMUST00000203209]

AlphaFold

Q9D842

Predicted Effect

probably damaging
Transcript: ENSMUST00000032130
AA Change: M118K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: M118K

Domain	Start	End	E-Value	Type
SCOP:d1lgpa_	6	105	2e-11	SMART
low complexity region	264	278	N/A	INTRINSIC
low complexity region	340	349	N/A	INTRINSIC
Pfam:zf-CCHH	372	396	1.7e-16	PFAM
Pfam:zf-CCHH	414	437	6.8e-15	PFAM
low complexity region	456	471	N/A	INTRINSIC
low complexity region	477	486	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065997
AA Change: M97K

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: M97K

Domain	Start	End	E-Value	Type
SCOP:d1lgpa_	14	84	7e-6	SMART
low complexity region	243	257	N/A	INTRINSIC
low complexity region	319	328	N/A	INTRINSIC
Pfam:zf-CCHH	351	376	1.7e-15	PFAM
Pfam:zf-CCHH	393	417	1.9e-15	PFAM
low complexity region	435	450	N/A	INTRINSIC
low complexity region	456	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204112

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased repair of gamma irradiation-induced DNA damage and increased microhomology at class switch recombination junctions in B 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
4930503L19Rik	T	A	18: 70,467,717	M365L	probably damaging	Het
5330417C22Rik	T	C	3: 108,481,814	K222E	possibly damaging	Het
Aars2	A	G	17: 45,518,545	E786G	probably benign	Het
Adamts12	G	T	15: 11,256,994	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,574,184	D12E	probably damaging	Het
Apobec1	A	G	6: 122,578,931	L189P	probably damaging	Het
BC061237	A	G	14: 44,504,256	Q152R	possibly damaging	Het
Bche	A	G	3: 73,701,799	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,715,776	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,505,224		probably benign	Het
Cd74	G	T	18: 60,811,363	C215F	probably damaging	Het
Cep97	C	T	16: 55,922,171	A138T	probably damaging	Het
Ces1e	T	A	8: 93,217,578	N204I	probably damaging	Het
Dicer1	T	C	12: 104,696,462	D1620G	probably benign	Het
Dnah17	A	G	11: 118,129,185	V12A	probably benign	Het
Dstyk	T	A	1: 132,456,765		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Gm10570	G	T	4: 130,308,228		probably benign	Het
Gm7145	C	T	1: 117,985,939	Q184*	probably null	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,862,148	R55H	probably benign	Het
Hdac4	G	T	1: 91,984,525	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,612,471	I349T	probably benign	Het
Inpp5a	A	T	7: 139,400,673	D9V	probably benign	Het
Irs1	T	C	1: 82,287,684	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,294,972	M17T	probably benign	Het
Lipa	T	A	19: 34,524,746	M33L	probably benign	Het
March6	G	T	15: 31,467,692	Q790K	probably benign	Het
Mccc1	G	A	3: 35,976,727	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,552,390	I196V	probably benign	Het
Myh15	T	A	16: 49,101,481	S463R	probably damaging	Het
Nab2	T	C	10: 127,664,351	K291E	probably damaging	Het
Neto2	T	C	8: 85,642,509	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,433,976	M1V	probably null	Het
Olfr90	C	T	17: 37,086,085	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,344,008	T357I	probably benign	Het
Psmd2	A	G	16: 20,655,273	E242G	probably benign	Het
Rnase12	A	C	14: 51,057,094	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,719,592	F58I	probably damaging	Het
Ryr1	T	G	7: 29,075,257	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,320,311	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,767,499	S640G	probably benign	Het
Sdccag3	A	G	2: 26,385,081		probably null	Het
Sdr9c7	T	A	10: 127,903,673	M219K	probably benign	Het
Soat1	A	T	1: 156,435,803	M392K	probably damaging	Het
Spata18	G	T	5: 73,675,216	K337N	probably damaging	Het
Supt16	A	G	14: 52,179,546	V325A	probably benign	Het
Syt2	A	G	1: 134,746,850	E342G	probably damaging	Het
Tars2	A	T	3: 95,754,487	L37*	probably null	Het
Tep1	T	C	14: 50,845,431	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,791,600	S613C	probably null	Het
Top3a	C	T	11: 60,744,023	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,372,569	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,428,818	N72S	probably benign	Het
Whrn	G	A	4: 63,472,684	T269I	probably benign	Het
Zfp759	T	A	13: 67,138,905	Y173*	probably null	Het

Other mutations in Aplf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Aplf	APN	6	87668408	splice site	probably benign
IGL01304:Aplf	APN	6	87641900	missense	possibly damaging	0.71
IGL02267:Aplf	APN	6	87658964	missense	probably damaging	1.00
R0294:Aplf	UTSW	6	87646245	missense	probably benign	0.02
R0352:Aplf	UTSW	6	87653884	missense	probably benign	0.01
R0445:Aplf	UTSW	6	87663752	missense	probably damaging	1.00
R0959:Aplf	UTSW	6	87646083	missense	probably benign	0.24
R1127:Aplf	UTSW	6	87646291	missense	probably benign	0.00
R1583:Aplf	UTSW	6	87646033	missense	probably damaging	1.00
R2878:Aplf	UTSW	6	87668427	nonsense	probably null
R3617:Aplf	UTSW	6	87671883	missense	possibly damaging	0.85
R4708:Aplf	UTSW	6	87663757	missense	probably damaging	1.00
R4823:Aplf	UTSW	6	87646255	missense	probably damaging	1.00
R4919:Aplf	UTSW	6	87630064	missense	possibly damaging	0.94
R4941:Aplf	UTSW	6	87668423	missense	probably damaging	1.00
R4941:Aplf	UTSW	6	87646349	missense	probably benign	0.00
R5208:Aplf	UTSW	6	87642026	splice site	probably null
R5575:Aplf	UTSW	6	87646147	missense	probably benign	0.02
R6271:Aplf	UTSW	6	87646248	missense	possibly damaging	0.88
R6772:Aplf	UTSW	6	87663799	missense	possibly damaging	0.76
R6906:Aplf	UTSW	6	87630086	missense	possibly damaging	0.65
R6975:Aplf	UTSW	6	87646086	missense	probably damaging	0.98
R7015:Aplf	UTSW	6	87641902	missense	probably damaging	0.99
R7038:Aplf	UTSW	6	87653823	nonsense	probably null
R7296:Aplf	UTSW	6	87646215	missense	probably damaging	0.99
R7778:Aplf	UTSW	6	87658202	splice site	probably null
R8259:Aplf	UTSW	6	87630005	missense	probably benign	0.23
R8260:Aplf	UTSW	6	87630005	missense	probably benign	0.23
R9047:Aplf	UTSW	6	87663797	missense	possibly damaging	0.79
R9570:Aplf	UTSW	6	87663799	missense	not run

Predicted Primers

PCR Primer
(F):5'- GGCGTTGTAACATGCATGATTTC -3'
(R):5'- AGCATTAACTGTGGTTTTAGGCTTC -3'

Sequencing Primer
(F):5'- TCTCTCTCCTTGAAATAAAGACCAG -3'
(R):5'- CTTCAGTTGGACAGAATGAGCTG -3'

Posted On

2018-05-04