Mutagenetix > Incidental Mutation

Incidental Mutation 'R8259:Aplf'

640426

Institutional Source

Beutler Lab

Gene Symbol

Aplf

Ensembl Gene

ENSMUSG00000030051

Gene Name

aprataxin and PNKP like factor

Synonyms

2010301N04Rik

MMRRC Submission

067650-MU

Accession Numbers

Essential gene?

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

Stock #

R8259 (G1)

Quality Score

90.0077

Status

Validated

Chromosome

Chromosomal Location

87605406-87649175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87606987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 476 (R476G)

Ref Sequence

ENSEMBL: ENSMUSP00000066232 (fasta)

Gene Model

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

AlphaFold

Q9D842

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000065997
AA Change: R476G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: R476G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,939,422 (GRCm39)	H272L	probably benign	Het
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adam34	G	A	8: 44,104,646 (GRCm39)	S333L	probably benign	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Birc6	A	G	17: 74,905,073 (GRCm39)	T1289A	probably benign	Het
Cacna1d	A	G	14: 29,773,475 (GRCm39)	S1759P	probably benign	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Clhc1	G	A	11: 29,503,746 (GRCm39)	R54Q	probably benign	Het
Cntnap3	T	A	13: 64,935,681 (GRCm39)	D394V	probably damaging	Het
Comp	A	G	8: 70,831,704 (GRCm39)	D441G	probably damaging	Het
Cyp20a1	G	A	1: 60,391,330 (GRCm39)		probably null	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Cyp2a12	C	T	7: 26,732,083 (GRCm39)	Q275*	probably null	Het
Dnhd1	A	T	7: 105,343,995 (GRCm39)	I1780L	probably benign	Het
Dpy19l2	A	G	9: 24,580,702 (GRCm39)	V213A	probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Ep300	A	G	15: 81,523,218 (GRCm39)	T1281A	unknown	Het
Ercc6l2	G	A	13: 64,020,285 (GRCm39)	E803K		Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Flnb	A	G	14: 7,889,183 (GRCm38)	Y511C	probably damaging	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Greb1	A	T	12: 16,774,925 (GRCm39)	C157*	probably null	Het
Grid2ip	A	G	5: 143,348,344 (GRCm39)	E145G	probably benign	Het
Hdac11	T	A	6: 91,149,210 (GRCm39)	V238E	probably damaging	Het
Herc2	A	G	7: 55,855,638 (GRCm39)	D3858G	probably damaging	Het
Hoxc4	A	G	15: 102,943,165 (GRCm39)	Y6C	probably damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nectin3	C	T	16: 46,256,754 (GRCm39)	R419Q	probably benign	Het
Nlrp4g	T	G	9: 124,353,392 (GRCm38)	Y579D	noncoding transcript	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or51e2	A	G	7: 102,392,034 (GRCm39)	Y59H	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Ren1	C	T	1: 133,278,534 (GRCm39)	R31*	probably null	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rpp14	T	G	14: 8,090,526 (GRCm38)	V150G	probably null	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Sbno1	A	T	5: 124,519,759 (GRCm39)	V1173E	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tcf20	A	C	15: 82,736,474 (GRCm39)	F1659C	probably damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Tmem87a	A	G	2: 120,227,928 (GRCm39)	F73S	possibly damaging	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Usp13	C	T	3: 32,971,748 (GRCm39)	Q743*	probably null	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	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
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
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'- TACCTGCTTTCACTGATGGATAC -3'
(R):5'- AGGCTGAGTAGTGACTGCTG -3'

Sequencing Primer
(F):5'- TACATTAAATAGGCACCAAAATAGGC -3'
(R):5'- TGATTGGCACCCAGGAAA -3'

Posted On

2020-07-28