Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Aplf'

688112

Institutional Source

Beutler Lab

Gene Symbol

Aplf

Ensembl Gene

ENSMUSG00000030051

Gene Name

aprataxin and PNKP like factor

Synonyms

2010301N04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87628424-87672193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87663797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 77 (T77A)

Ref Sequence

ENSEMBL: ENSMUSP00000032130 (fasta)

Gene Model

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

AlphaFold

Q9D842

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032130
AA Change: T77A

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: T77A

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

possibly damaging
Transcript: ENSMUST00000065997
AA Change: T56A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: T56A

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: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	Het

Other mutations in Aplf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Aplf	APN	6	87668408	splice site	probably benign
IGL01304:Aplf	APN	6	87641900	missense	possibly damaging	0.71
IGL02267:Aplf	APN	6	87658964	missense	probably damaging	1.00
R0294:Aplf	UTSW	6	87646245	missense	probably benign	0.02
R0352:Aplf	UTSW	6	87653884	missense	probably benign	0.01
R0445:Aplf	UTSW	6	87663752	missense	probably damaging	1.00
R0959:Aplf	UTSW	6	87646083	missense	probably benign	0.24
R1127:Aplf	UTSW	6	87646291	missense	probably benign	0.00
R1583:Aplf	UTSW	6	87646033	missense	probably damaging	1.00
R2878:Aplf	UTSW	6	87668427	nonsense	probably null
R3617:Aplf	UTSW	6	87671883	missense	possibly damaging	0.85
R4708:Aplf	UTSW	6	87663757	missense	probably damaging	1.00
R4823:Aplf	UTSW	6	87646255	missense	probably damaging	1.00
R4919:Aplf	UTSW	6	87630064	missense	possibly damaging	0.94
R4941:Aplf	UTSW	6	87668423	missense	probably damaging	1.00
R4941:Aplf	UTSW	6	87646349	missense	probably benign	0.00
R5208:Aplf	UTSW	6	87642026	splice site	probably null
R5575:Aplf	UTSW	6	87646147	missense	probably benign	0.02
R6271:Aplf	UTSW	6	87646248	missense	possibly damaging	0.88
R6381:Aplf	UTSW	6	87658977	missense	probably damaging	0.96
R6772:Aplf	UTSW	6	87663799	missense	possibly damaging	0.76
R6906:Aplf	UTSW	6	87630086	missense	possibly damaging	0.65
R6975:Aplf	UTSW	6	87646086	missense	probably damaging	0.98
R7015:Aplf	UTSW	6	87641902	missense	probably damaging	0.99
R7038:Aplf	UTSW	6	87653823	nonsense	probably null
R7296:Aplf	UTSW	6	87646215	missense	probably damaging	0.99
R7778:Aplf	UTSW	6	87658202	splice site	probably null
R8259:Aplf	UTSW	6	87630005	missense	probably benign	0.23
R8260:Aplf	UTSW	6	87630005	missense	probably benign	0.23
R9570:Aplf	UTSW	6	87663799	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGACTCAACCCTAGAGTGATTTCC -3'
(R):5'- ATTGCAGTCAATGGTGCCAG -3'

Sequencing Primer
(F):5'- TCCCTGAAGCATCTGTGAAG -3'
(R):5'- AGTCAATGGTGCCAGGCTCAC -3'

Posted On

2021-11-19