Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Aplf'

260168

Institutional Source

Beutler Lab

Gene Symbol

Aplf

Ensembl Gene

ENSMUSG00000030051

Gene Name

aprataxin and PNKP like factor

Synonyms

2010301N04Rik

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87605406-87649175 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 87645409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 32 (R32*)

Ref Sequence

ENSEMBL: ENSMUSP00000145358 (fasta)

Gene Model

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

AlphaFold

Q9D842

Predicted Effect

probably null
Transcript: ENSMUST00000032130
AA Change: R53*

SMART Domains

Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: R53*

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

probably null
Transcript: ENSMUST00000065997
AA Change: R32*

SMART Domains

Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: R32*

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

noncoding transcript
Transcript: ENSMUST00000095740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160577

Predicted Effect

probably null
Transcript: ENSMUST00000203209
AA Change: R32*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204112

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

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
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,570,817 (GRCm39)	F404L	probably benign	Het
Akr1c20	G	A	13: 4,557,774 (GRCm39)	T251M	probably damaging	Het
Amph	G	A	13: 19,288,437 (GRCm39)	V309I	possibly damaging	Het
Ano2	T	G	6: 125,840,481 (GRCm39)	F384C	probably damaging	Het
Arhgef18	A	G	8: 3,482,759 (GRCm39)	M155V	probably benign	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Camkmt	T	C	17: 85,738,979 (GRCm39)		probably benign	Het
Capn2	T	A	1: 182,344,798 (GRCm39)	E41V	probably benign	Het
Cd53	T	C	3: 106,674,732 (GRCm39)	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dact2	A	T	17: 14,416,176 (GRCm39)	S675T	probably damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eml4	T	A	17: 83,717,603 (GRCm39)	H58Q	probably benign	Het
F13b	T	C	1: 139,429,485 (GRCm39)	M1T	probably null	Het
Fam83b	A	G	9: 76,398,092 (GRCm39)	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Fscb	A	T	12: 64,519,348 (GRCm39)	V706E	unknown	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,727,805 (GRCm39)		probably benign	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Map3k19	T	A	1: 127,751,530 (GRCm39)	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,482,954 (GRCm39)	S588G	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,818,776 (GRCm39)	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,295,880 (GRCm39)	R158H	possibly damaging	Het
Obscn	T	C	11: 58,947,014 (GRCm39)	E4337G	possibly damaging	Het
Or5b106	A	G	19: 13,123,771 (GRCm39)	L84P	probably benign	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rbm6	T	C	9: 107,729,649 (GRCm39)	E333G	probably damaging	Het
Rem2	A	G	14: 54,713,819 (GRCm39)	T31A	possibly damaging	Het
Ric1	A	G	19: 29,579,730 (GRCm39)	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,418,362 (GRCm39)	S917P	probably damaging	Het
Scn2a	G	A	2: 65,518,715 (GRCm39)	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,313,264 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,419 (GRCm39)	E714*	probably null	Het
Slc15a1	T	A	14: 121,703,345 (GRCm39)	K545N	probably benign	Het
Slc1a2	T	A	2: 102,591,512 (GRCm39)	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,997,143 (GRCm39)	S70P	probably damaging	Het
Spopfm1	G	T	3: 94,173,787 (GRCm39)	C265F	possibly damaging	Het
Taf1a	A	G	1: 183,179,173 (GRCm39)	E117G	probably damaging	Het
Trem2	A	G	17: 48,658,141 (GRCm39)	D135G	probably benign	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,710,735 (GRCm39)		probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Wdr45	C	T	X: 7,593,611 (GRCm39)	P271S	probably damaging	Het
Zfp410	A	C	12: 84,378,411 (GRCm39)	N245T	probably damaging	Het

Other mutations in Aplf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Aplf	APN	6	87,645,390 (GRCm39)	splice site	probably benign
IGL01304:Aplf	APN	6	87,618,882 (GRCm39)	missense	possibly damaging	0.71
IGL02267:Aplf	APN	6	87,635,946 (GRCm39)	missense	probably damaging	1.00
R0294:Aplf	UTSW	6	87,623,227 (GRCm39)	missense	probably benign	0.02
R0352:Aplf	UTSW	6	87,630,866 (GRCm39)	missense	probably benign	0.01
R0445:Aplf	UTSW	6	87,640,734 (GRCm39)	missense	probably damaging	1.00
R0959:Aplf	UTSW	6	87,623,065 (GRCm39)	missense	probably benign	0.24
R1127:Aplf	UTSW	6	87,623,273 (GRCm39)	missense	probably benign	0.00
R1583:Aplf	UTSW	6	87,623,015 (GRCm39)	missense	probably damaging	1.00
R3617:Aplf	UTSW	6	87,648,865 (GRCm39)	missense	possibly damaging	0.85
R4708:Aplf	UTSW	6	87,640,739 (GRCm39)	missense	probably damaging	1.00
R4823:Aplf	UTSW	6	87,623,237 (GRCm39)	missense	probably damaging	1.00
R4919:Aplf	UTSW	6	87,607,046 (GRCm39)	missense	possibly damaging	0.94
R4941:Aplf	UTSW	6	87,623,331 (GRCm39)	missense	probably benign	0.00
R4941:Aplf	UTSW	6	87,645,405 (GRCm39)	missense	probably damaging	1.00
R5208:Aplf	UTSW	6	87,619,008 (GRCm39)	splice site	probably null
R5575:Aplf	UTSW	6	87,623,129 (GRCm39)	missense	probably benign	0.02
R6271:Aplf	UTSW	6	87,623,230 (GRCm39)	missense	possibly damaging	0.88
R6381:Aplf	UTSW	6	87,635,959 (GRCm39)	missense	probably damaging	0.96
R6772:Aplf	UTSW	6	87,640,781 (GRCm39)	missense	possibly damaging	0.76
R6906:Aplf	UTSW	6	87,607,068 (GRCm39)	missense	possibly damaging	0.65
R6975:Aplf	UTSW	6	87,623,068 (GRCm39)	missense	probably damaging	0.98
R7015:Aplf	UTSW	6	87,618,884 (GRCm39)	missense	probably damaging	0.99
R7038:Aplf	UTSW	6	87,630,805 (GRCm39)	nonsense	probably null
R7296:Aplf	UTSW	6	87,623,197 (GRCm39)	missense	probably damaging	0.99
R7778:Aplf	UTSW	6	87,635,184 (GRCm39)	splice site	probably null
R8259:Aplf	UTSW	6	87,606,987 (GRCm39)	missense	probably benign	0.23
R8260:Aplf	UTSW	6	87,606,987 (GRCm39)	missense	probably benign	0.23
R9047:Aplf	UTSW	6	87,640,779 (GRCm39)	missense	possibly damaging	0.79
R9570:Aplf	UTSW	6	87,640,781 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CTAACCATTCAGATTCAGCTCTGTC -3'
(R):5'- TTCGTTATCTGTTAAATGAGGGCAG -3'

Sequencing Primer
(F):5'- CAGATTCAGCTCTGTCCTATGAG -3'
(R):5'- AATGAGGGCAGTTATTTGATATGCAG -3'

Posted On

2015-01-23