Mutagenetix > Incidental Mutation

Incidental Mutation 'R6212:Apex1'

503523

Institutional Source

Beutler Lab

Gene Symbol

Apex1

Ensembl Gene

ENSMUSG00000035960

Gene Name

apurinic/apyrimidinic endonuclease 1

Synonyms

Ref-1, HAP1

MMRRC Submission

044345-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51162425-51164596 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51164350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 264 (P264S)

Ref Sequence

ENSEMBL: ENSMUSP00000116319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000049312] [ENSMUST00000049411] [ENSMUST00000128395] [ENSMUST00000136753] [ENSMUST00000154288] [ENSMUST00000160835] [ENSMUST00000160393] [ENSMUST00000160538] [ENSMUST00000162177] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000161166] [ENSMUST00000162957] [ENSMUST00000160890] [ENSMUST00000226871]

AlphaFold

P28352

Predicted Effect

probably benign
Transcript: ENSMUST00000006452

SMART Domains

Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	186	1.1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049312

SMART Domains

Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	270	9.8e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049411
AA Change: P292S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000042602
Gene: ENSMUSG00000035960
AA Change: P292S

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	308	1.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128395
AA Change: P264S

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116319
Gene: ENSMUSG00000035960
AA Change: P264S

Domain	Start	End	E-Value	Type
low complexity region	9	35	N/A	INTRINSIC
Pfam:Exo_endo_phos	59	280	2.3e-24	PFAM
Pfam:Exo_endo_phos_2	138	284	4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136753

SMART Domains

Protein: ENSMUSP00000123148
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	177	3.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154288

SMART Domains

Protein: ENSMUSP00000122343
Gene: ENSMUSG00000035960

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:Exo_endo_phos	64	214	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159047

Predicted Effect

probably benign
Transcript: ENSMUST00000161669

Predicted Effect

probably benign
Transcript: ENSMUST00000160835

SMART Domains

Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	4	277	2.8e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160393

SMART Domains

Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	301	3.6e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160538

SMART Domains

Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	197	1.9e-82	PFAM
low complexity region	221	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159745

Predicted Effect

probably benign
Transcript: ENSMUST00000162177

SMART Domains

Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	1	220	1.1e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162935

Predicted Effect

probably benign
Transcript: ENSMUST00000159292

SMART Domains

Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	301	3.6e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160375

SMART Domains

Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	1	156	1.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161166

SMART Domains

Protein: ENSMUSP00000125414
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	168	3.6e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162957

SMART Domains

Protein: ENSMUSP00000123697
Gene: ENSMUSG00000035953

Domain	Start	End	E-Value	Type
Pfam:Tmemb_55A	1	174	2.9e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160464

Predicted Effect

probably benign
Transcript: ENSMUST00000160890

SMART Domains

Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M22	23	79	1.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163088

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10 associated with abnormal embryogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,172,505 (GRCm39)	I116N	probably damaging	Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Ap3b1	C	A	13: 94,630,207 (GRCm39)	H821N	unknown	Het
Arhgap27	T	C	11: 103,251,698 (GRCm39)	Y10C	probably damaging	Het
Bag6	A	G	17: 35,359,278 (GRCm39)	T208A	probably benign	Het
Brd4	G	T	17: 32,421,423 (GRCm39)	P771Q	probably damaging	Het
Capn3	A	G	2: 120,307,667 (GRCm39)	S69G	probably benign	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,800,888 (GRCm39)	H2519R	probably benign	Het
Chd8	T	A	14: 52,439,155 (GRCm39)	N48I	probably damaging	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Dnhd1	C	T	7: 105,353,255 (GRCm39)	P2803S	probably damaging	Het
Dusp26	G	A	8: 31,584,252 (GRCm39)	D120N	probably damaging	Het
Epha6	T	C	16: 60,245,719 (GRCm39)	H160R	possibly damaging	Het
Erg	C	T	16: 95,180,022 (GRCm39)	V215I	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gabbr2	T	C	4: 46,681,189 (GRCm39)	D124G	probably damaging	Het
Gapdh	T	C	6: 125,139,661 (GRCm39)	H203R	probably damaging	Het
Garin1b	T	C	6: 29,319,373 (GRCm39)	L59P	probably damaging	Het
Ggnbp2	T	C	11: 84,727,503 (GRCm39)	M42V	possibly damaging	Het
Hk2	C	A	6: 82,705,823 (GRCm39)	A827S	probably benign	Het
Hoxa5	T	C	6: 52,179,694 (GRCm39)	E227G	probably damaging	Het
Itgax	C	A	7: 127,729,504 (GRCm39)	H31N	possibly damaging	Het
Itgax	A	G	7: 127,747,025 (GRCm39)	D942G	probably benign	Het
Kars1	A	T	8: 112,726,829 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,702 (GRCm39)	F1739L	probably damaging	Het
Map2k1	A	T	9: 64,112,445 (GRCm39)	L155Q	probably damaging	Het
Mcf2l	A	T	8: 13,067,431 (GRCm39)	D1013V	probably damaging	Het
Mocs1	G	A	17: 49,742,224 (GRCm39)	G118S	probably damaging	Het
Ncam2	T	C	16: 81,229,650 (GRCm39)	S37P	probably damaging	Het
Nfxl1	A	G	5: 72,673,553 (GRCm39)		probably null	Het
Nodal	C	T	10: 61,259,300 (GRCm39)	H246Y	possibly damaging	Het
Nwd1	G	A	8: 73,421,950 (GRCm39)	V999M	possibly damaging	Het
Oaz3	T	A	3: 94,342,375 (GRCm39)	T139S	probably benign	Het
Or6z6	T	C	7: 6,491,367 (GRCm39)		probably null	Het
Or7e165	A	G	9: 19,694,585 (GRCm39)	D52G	probably damaging	Het
P3h3	T	A	6: 124,822,606 (GRCm39)	T522S	probably benign	Het
Pgap1	A	G	1: 54,554,052 (GRCm39)	F457S	probably damaging	Het
Prkce	T	C	17: 86,866,729 (GRCm39)	Y530H	probably damaging	Het
Ptpn3	A	T	4: 57,270,070 (GRCm39)	C31S	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb6e	T	A	13: 34,025,220 (GRCm39)	N24Y	probably damaging	Het
Slc4a8	T	C	15: 100,709,452 (GRCm39)	V937A	possibly damaging	Het
Smgc	T	A	15: 91,734,830 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,148,861 (GRCm39)	N2027K	probably damaging	Het
Stra6l	T	C	4: 45,884,664 (GRCm39)	Y565H	probably benign	Het
Tmem262	A	G	19: 6,130,668 (GRCm39)	E62G	possibly damaging	Het
Tnrc6a	T	A	7: 122,742,965 (GRCm39)		probably null	Het
Txlnb	T	C	10: 17,675,057 (GRCm39)	I70T	probably damaging	Het
Whrn	A	T	4: 63,412,923 (GRCm39)	L25*	probably null	Het
Zfp326	T	A	5: 106,058,097 (GRCm39)	V412E	probably damaging	Het
Zfp831	A	G	2: 174,487,661 (GRCm39)	R779G	possibly damaging	Het

Other mutations in Apex1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Apex1	APN	14	51,163,711 (GRCm39)	missense	possibly damaging	0.47
R3855:Apex1	UTSW	14	51,163,714 (GRCm39)	missense	probably benign	0.13
R3856:Apex1	UTSW	14	51,163,714 (GRCm39)	missense	probably benign	0.13
R4461:Apex1	UTSW	14	51,163,970 (GRCm39)	missense	probably damaging	0.99
R6014:Apex1	UTSW	14	51,162,982 (GRCm39)	missense	probably benign	0.00
R7653:Apex1	UTSW	14	51,163,995 (GRCm39)	missense	probably damaging	1.00
R9206:Apex1	UTSW	14	51,163,125 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATGCTGGCTTTACTCCCCAG -3'
(R):5'- TCTTGGATTGTCTAAAGGAAACCAG -3'

Sequencing Primer
(F):5'- CAGGAGCGCCAAGGTTTTG -3'
(R):5'- TGTTTAAAATGAGGGAGCACATAC -3'

Posted On

2018-02-27