Mutagenetix > Incidental Mutation

Incidental Mutation 'R5575:Aplf'

437161

Institutional Source

Beutler Lab

Gene Symbol

Aplf

Ensembl Gene

ENSMUSG00000030051

Gene Name

aprataxin and PNKP like factor

Synonyms

2010301N04Rik

MMRRC Submission

043130-MU

Accession Numbers

Essential gene?

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

Stock #

R5575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87605406-87649175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87623129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 338 (C338G)

Ref Sequence

ENSEMBL: ENSMUSP00000032130 (fasta)

Gene Model

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

AlphaFold

Q9D842

Predicted Effect

probably benign
Transcript: ENSMUST00000032130
AA Change: C338G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: C338G

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 benign
Transcript: ENSMUST00000065997
AA Change: C317G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: C317G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

97% (57/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,916,195 (GRCm39)		probably null	Het
Adrm1	T	G	2: 179,817,509 (GRCm39)	D325E	probably benign	Het
Anapc4	T	A	5: 53,013,213 (GRCm39)	V433E	probably damaging	Het
Atad5	A	G	11: 79,991,149 (GRCm39)	T681A	probably benign	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Catsperg2	T	C	7: 29,405,015 (GRCm39)	K81R	possibly damaging	Het
Cep170b	T	A	12: 112,702,066 (GRCm39)	H286Q	probably damaging	Het
Cfap61	G	A	2: 145,859,313 (GRCm39)	V434I	probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col9a3	A	T	2: 180,240,639 (GRCm39)		probably benign	Het
Dsc2	A	T	18: 20,168,447 (GRCm39)	C671S	probably damaging	Het
Eif5	T	C	12: 111,508,740 (GRCm39)	V245A	probably damaging	Het
Epha5	G	A	5: 84,564,361 (GRCm39)	R2W	probably damaging	Het
Gabrb2	G	A	11: 42,420,365 (GRCm39)		probably benign	Het
Gm3453	A	G	14: 5,978,205 (GRCm38)	V66A	possibly damaging	Het
Gna15	T	C	10: 81,359,707 (GRCm39)	I28V	probably damaging	Het
Hk3	A	T	13: 55,162,583 (GRCm39)	D88E	probably damaging	Het
Hmbox1	T	C	14: 65,060,613 (GRCm39)	T375A	probably benign	Het
Ibsp	A	T	5: 104,457,925 (GRCm39)	E154V	possibly damaging	Het
Il7r	A	G	15: 9,508,273 (GRCm39)	S350P	probably benign	Het
Isx	T	C	8: 75,619,429 (GRCm39)	L207P	probably benign	Het
Krt35	T	C	11: 99,985,450 (GRCm39)	E197G	probably damaging	Het
Krt78	G	A	15: 101,855,787 (GRCm39)	Q675*	probably null	Het
Marchf1	T	A	8: 66,920,962 (GRCm39)	V217E	probably damaging	Het
Mertk	T	C	2: 128,578,485 (GRCm39)	I157T	probably damaging	Het
Mmab	A	T	5: 114,574,832 (GRCm39)	L147Q	probably damaging	Het
Ndst4	T	A	3: 125,231,479 (GRCm39)	V16D	probably benign	Het
Niban1	A	T	1: 151,593,991 (GRCm39)	H892L	probably benign	Het
Ogdhl	T	C	14: 32,047,804 (GRCm39)	L18P	possibly damaging	Het
Pikfyve	A	C	1: 65,312,889 (GRCm39)	H2089P	probably damaging	Het
Plxna1	A	T	6: 89,301,523 (GRCm39)	L1501Q	possibly damaging	Het
Ppp2r5c	T	C	12: 110,519,266 (GRCm39)	F246S	probably damaging	Het
Ptbp2	A	T	3: 119,514,432 (GRCm39)		probably null	Het
Ptbp2	G	A	3: 119,514,438 (GRCm39)	P463L	possibly damaging	Het
Rad51	A	G	2: 118,964,914 (GRCm39)	D274G	probably benign	Het
Ranbp2	T	C	10: 58,328,405 (GRCm39)	V2807A	probably damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rp1l1	C	T	14: 64,268,433 (GRCm39)	H1340Y	probably benign	Het
Ryr1	T	A	7: 28,778,118 (GRCm39)	H2133L	possibly damaging	Het
Scgb1c1	G	A	7: 140,426,024 (GRCm39)	G40E	probably damaging	Het
Shank2	T	C	7: 143,963,871 (GRCm39)	I703T	probably damaging	Het
Spag17	G	A	3: 99,961,138 (GRCm39)	A975T	possibly damaging	Het
Supt6	T	C	11: 78,119,787 (GRCm39)	D400G	probably damaging	Het
Synrg	T	C	11: 83,900,378 (GRCm39)		probably null	Het
Thada	A	C	17: 84,723,827 (GRCm39)		probably null	Het
Themis3	A	G	17: 66,862,321 (GRCm39)	S546P	possibly damaging	Het
Tinf2	T	C	14: 55,917,631 (GRCm39)	D286G	probably benign	Het
Tmem67	A	T	4: 12,047,886 (GRCm39)	V815D	possibly damaging	Het
Trpm1	T	C	7: 63,870,018 (GRCm39)	L441P	possibly damaging	Het
Vapa	A	G	17: 65,920,247 (GRCm39)	V16A	probably benign	Het
Vmn2r38	A	T	7: 9,078,635 (GRCm39)	Y582*	probably null	Het
Vps13b	A	T	15: 35,930,065 (GRCm39)	K3934I	probably damaging	Het
Wrn	G	A	8: 33,826,158 (GRCm39)	T168I	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
R5208:Aplf	UTSW	6	87,619,008 (GRCm39)	splice site	probably null
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'- CGGAAGGCAATGGTTCATTAAG -3'
(R):5'- CTTCAAACATAGTAAAGGACCCAGATG -3'

Sequencing Primer
(F):5'- TCATTAAGCTTTTAATACACACAGGG -3'
(R):5'- CTTGGTGAGGTCTCTAAAC -3'

Posted On

2016-10-26