Mutagenetix > Incidental Mutation

Incidental Mutation 'R7778:Aplf'

628538

Institutional Source

Beutler Lab

Gene Symbol

Aplf

Ensembl Gene

ENSMUSG00000030051

Gene Name

aprataxin and PNKP like factor

Synonyms

2010301N04Rik

MMRRC Submission

045834-MU

Accession Numbers

Essential gene?

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

Stock #

R7778 (G1)

Quality Score

160.009

Status

Validated

Chromosome

Chromosomal Location

87605406-87649175 bp(-) (GRCm39)

Type of Mutation

splice site (231 bp from exon)

DNA Base Change (assembly)

A to C at 87635184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066232 (fasta)

Gene Model

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,569,855 (GRCm39)	S524P	possibly damaging	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Elmo1	A	G	13: 20,773,812 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kcnt1	T	G	2: 25,791,901 (GRCm39)	I617S	probably benign	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lcn2	T	C	2: 32,277,927 (GRCm39)	D55G	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or11h23	G	T	14: 50,947,928 (GRCm39)	C47F	possibly damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prkcd	C	T	14: 30,327,772 (GRCm39)		probably null	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Tmem69	A	G	4: 116,410,595 (GRCm39)	L125P	probably damaging	Het
Tnfsf13	C	T	11: 69,575,989 (GRCm39)	V33M	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly damaging	Het
Zfp978	T	C	4: 147,469,760 (GRCm39)		probably null	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
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
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'- GCCCTTTCATCTCAGATGTGAC -3'
(R):5'- GGCGGAAAGTCTAAGTGACC -3'

Sequencing Primer
(F):5'- TTCATCTCAGATGTGACACCCAC -3'
(R):5'- GTCTAAGTGACCAGAGCCTCTC -3'

Posted On

2020-04-28