Mutagenetix > Incidental Mutation

Incidental Mutation 'R5208:Aplf'

402149

Institutional Source

Beutler Lab

Gene Symbol

Aplf

Ensembl Gene

ENSMUSG00000030051

Gene Name

aprataxin and PNKP like factor

Synonyms

2010301N04Rik

MMRRC Submission

042783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87605406-87649175 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 87619008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066232 (fasta)

Gene Model

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

AlphaFold

Q9D842

Predicted Effect

probably null
Transcript: ENSMUST00000032130

SMART Domains

Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051

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: ENSMUST00000032130

SMART Domains

Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051

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

SMART Domains

Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051

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 null
Transcript: ENSMUST00000065997

SMART Domains

Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051

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

probably benign
Transcript: ENSMUST00000203209

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,344,398 (GRCm39)	N58I	probably benign	Het
Adgra3	T	C	5: 50,168,857 (GRCm39)	D163G	probably damaging	Het
Alcam	C	A	16: 52,115,411 (GRCm39)	E236*	probably null	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arl4a	A	T	12: 40,086,744 (GRCm39)	M1K	probably null	Het
Asic4	A	G	1: 75,427,870 (GRCm39)	D132G	probably damaging	Het
Bbs12	T	C	3: 37,374,422 (GRCm39)	I290T	probably benign	Het
BC024139	A	G	15: 76,008,865 (GRCm39)	S290P	probably benign	Het
Bmp6	G	A	13: 38,653,673 (GRCm39)	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711 (GRCm38)	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,599,778 (GRCm39)		probably null	Het
Cdc42bpg	G	A	19: 6,371,750 (GRCm39)	R1343K	probably benign	Het
Cdk18	A	T	1: 132,045,218 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,403,243 (GRCm39)		probably null	Het
Cfhr1	A	T	1: 139,484,068 (GRCm39)		probably null	Het
Chn2	A	T	6: 54,272,786 (GRCm39)	I201F	probably damaging	Het
Chrdl2	A	G	7: 99,673,129 (GRCm39)	D175G	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah3	C	G	7: 119,631,861 (GRCm39)	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,644,343 (GRCm39)	Y372*	probably null	Het
Eftud2	G	A	11: 102,732,011 (GRCm39)	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,691,545 (GRCm39)	S1170A	probably benign	Het
Gdpd4	A	C	7: 97,664,118 (GRCm39)	K572Q	probably benign	Het
Gm7356	T	C	17: 14,221,456 (GRCm39)	E191G	probably damaging	Het
Gm8674	A	T	13: 50,055,957 (GRCm39)		noncoding transcript	Het
Gulp1	T	G	1: 44,820,199 (GRCm39)	H235Q	probably benign	Het
Hormad1	T	C	3: 95,485,418 (GRCm39)	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,645,110 (GRCm39)	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,905,069 (GRCm39)	Y194F	possibly damaging	Het
Lars1	A	C	18: 42,350,622 (GRCm39)	S896A	probably benign	Het
Lonp1	A	G	17: 56,924,793 (GRCm39)	V538A	probably damaging	Het
Map3k14	A	T	11: 103,129,972 (GRCm39)	L315Q	probably damaging	Het
Met	T	A	6: 17,526,422 (GRCm39)	Y500*	probably null	Het
Mga	T	G	2: 119,778,462 (GRCm39)	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,313,078 (GRCm39)	I152L	probably benign	Het
Mthfsd	G	A	8: 121,835,058 (GRCm39)		probably benign	Het
Mup4	A	G	4: 59,958,119 (GRCm39)	F150L	probably damaging	Het
Mybph	T	A	1: 134,121,273 (GRCm39)	V11D	probably benign	Het
Or4f54	A	T	2: 111,122,946 (GRCm39)	E111V	probably damaging	Het
Or52n2c	A	G	7: 104,574,933 (GRCm39)	F13L	probably benign	Het
Or5ak20	T	A	2: 85,184,142 (GRCm39)	I43F	probably benign	Het
Pde4a	T	C	9: 21,114,854 (GRCm39)		probably null	Het
Pex2	C	T	3: 5,626,428 (GRCm39)	R127H	probably benign	Het
Pgap3	A	G	11: 98,288,874 (GRCm39)	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,202,467 (GRCm39)	V14A	probably benign	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Ptprn2	A	G	12: 116,822,548 (GRCm39)	Y209C	probably damaging	Het
Scart2	C	A	7: 139,877,949 (GRCm39)	A977D	probably benign	Het
Sema4c	T	A	1: 36,589,407 (GRCm39)	D573V	probably damaging	Het
Setx	A	T	2: 29,056,379 (GRCm39)	I2192F	possibly damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Sp4	A	G	12: 118,263,281 (GRCm39)	L255P	probably damaging	Het
Spaca7	A	G	8: 12,636,456 (GRCm39)	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,657,891 (GRCm39)	I390L	possibly damaging	Het
Tars2	A	G	3: 95,654,905 (GRCm39)	W128R	probably damaging	Het
Tll1	G	A	8: 64,504,527 (GRCm39)	T623M	probably damaging	Het
Tmem129	A	T	5: 33,812,850 (GRCm39)	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,870,051 (GRCm39)	I73F	probably benign	Het
Tnks1bp1	T	C	2: 84,900,976 (GRCm39)	M1561T	probably damaging	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp142	A	T	1: 74,610,027 (GRCm39)	V1153E	probably benign	Het
Zwilch	T	C	9: 64,060,205 (GRCm39)	I354V	probably benign	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
R2878:Aplf	UTSW	6	87,645,409 (GRCm39)	nonsense	probably null
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
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'- CGTCTGAGCTGGCTAAGAAG -3'
(R):5'- TTTGTTCTCACAGGACGGC -3'

Sequencing Primer
(F):5'- CTAAGAAGCGATTAGGGAGAAGGGC -3'
(R):5'- GGACCATTTTCCAGCAACCAGATG -3'

Posted On

2016-07-22