Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:Alpi'

420370

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alpi

Ensembl Gene

ENSMUSG00000079440

Gene Name

alkaline phosphatase, intestinal

Synonyms

2010001C14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

87025724-87029328 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 87028350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113270]

AlphaFold

F8VPQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000113270

SMART Domains

Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
alkPPc	54	489	7.97e-247	SMART
low complexity region	509	532	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186823

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,911,362 (GRCm39)	A1161V	probably benign	Het
Asxl1	A	T	2: 153,242,333 (GRCm39)	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,255,329 (GRCm39)	I49V	probably benign	Het
Bod1l	T	C	5: 41,962,578 (GRCm39)		probably benign	Het
Ccl20	A	G	1: 83,095,597 (GRCm39)	M54V	probably benign	Het
Cep72	A	C	13: 74,191,637 (GRCm39)	L200V	possibly damaging	Het
Clic4	T	C	4: 134,945,925 (GRCm39)	D164G	probably damaging	Het
Col5a3	G	A	9: 20,686,624 (GRCm39)	P1334S	unknown	Het
Dab2	T	C	15: 6,459,030 (GRCm39)	L293P	probably damaging	Het
Ddx50	A	T	10: 62,479,109 (GRCm39)	S140T	probably benign	Het
Dnah6	A	T	6: 73,052,833 (GRCm39)	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,952,666 (GRCm39)	E721G	probably damaging	Het
Esyt3	A	T	9: 99,218,109 (GRCm39)		probably benign	Het
Fat4	G	T	3: 38,943,283 (GRCm39)	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,909 (GRCm39)	I308V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,432,674 (GRCm39)		probably benign	Het
Gm10109	A	T	7: 43,871,126 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,245,519 (GRCm39)	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,356,077 (GRCm39)		probably benign	Het
Iqca1	A	G	1: 90,072,691 (GRCm39)	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,826,546 (GRCm39)	L161R	probably damaging	Het
Kif19a	G	T	11: 114,670,044 (GRCm39)	V80L	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,670,774 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,840,783 (GRCm39)	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,813,077 (GRCm39)		probably benign	Het
Larp1b	A	T	3: 40,978,962 (GRCm39)	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,392,279 (GRCm39)		probably benign	Het
Mdh1b	T	C	1: 63,759,154 (GRCm39)	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,631,813 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,170,113 (GRCm39)		probably benign	Het
Myo7b	C	T	18: 32,131,654 (GRCm39)	S514N	probably damaging	Het
Nav1	A	T	1: 135,378,641 (GRCm39)	I1610K	probably damaging	Het
Nbas	T	C	12: 13,584,473 (GRCm39)	L2095P	probably damaging	Het
Nrros	T	C	16: 31,963,588 (GRCm39)	N115S	probably damaging	Het
Or5p52	T	C	7: 107,502,577 (GRCm39)	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519 (GRCm39)	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,385,356 (GRCm39)	E150K	probably damaging	Het
Pan2	T	A	10: 128,150,996 (GRCm39)	L771Q	probably benign	Het
Pbrm1	T	A	14: 30,806,976 (GRCm39)	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,453,713 (GRCm39)	R31L	probably benign	Het
Proser3	A	C	7: 30,242,993 (GRCm39)	S195A	probably damaging	Het
Rad50	T	C	11: 53,586,121 (GRCm39)	K292E	probably benign	Het
Rbm27	G	A	18: 42,438,781 (GRCm39)	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314 (GRCm39)	I649T	probably damaging	Het
Skint3	G	A	4: 112,113,103 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,304,285 (GRCm39)	L576Q	probably damaging	Het
Snx2	A	G	18: 53,349,463 (GRCm39)	D408G	probably damaging	Het
Taar2	T	C	10: 23,817,069 (GRCm39)	V203A	probably benign	Het
Tdrd6	C	T	17: 43,936,459 (GRCm39)	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,838,444 (GRCm39)	L515R	probably damaging	Het
Unc13a	A	T	8: 72,108,353 (GRCm39)	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,614,496 (GRCm39)	D76G	probably benign	Het
Whrn	T	C	4: 63,336,855 (GRCm39)	D127G	probably damaging	Het

Other mutations in Alpi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Alpi	APN	1	87,027,442 (GRCm39)	missense	probably damaging	1.00
IGL01972:Alpi	APN	1	87,027,431 (GRCm39)	missense	probably damaging	1.00
IGL02672:Alpi	APN	1	87,028,994 (GRCm39)	missense	probably damaging	1.00
IGL03089:Alpi	APN	1	87,027,830 (GRCm39)	missense	probably benign	0.05
IGL03099:Alpi	APN	1	87,026,353 (GRCm39)	missense	unknown
IGL03154:Alpi	APN	1	87,027,810 (GRCm39)	missense	probably damaging	1.00
K7371:Alpi	UTSW	1	87,026,893 (GRCm39)	splice site	probably benign
R0053:Alpi	UTSW	1	87,026,512 (GRCm39)	missense	probably benign	0.03
R0054:Alpi	UTSW	1	87,027,487 (GRCm39)	missense	possibly damaging	0.61
R0070:Alpi	UTSW	1	87,028,881 (GRCm39)	splice site	probably benign
R1586:Alpi	UTSW	1	87,027,923 (GRCm39)	missense	probably damaging	1.00
R1835:Alpi	UTSW	1	87,027,136 (GRCm39)	missense	possibly damaging	0.88
R2372:Alpi	UTSW	1	87,028,316 (GRCm39)	missense	probably damaging	1.00
R4546:Alpi	UTSW	1	87,026,839 (GRCm39)	missense	probably damaging	1.00
R4861:Alpi	UTSW	1	87,028,191 (GRCm39)	missense	probably damaging	0.98
R4861:Alpi	UTSW	1	87,028,191 (GRCm39)	missense	probably damaging	0.98
R4968:Alpi	UTSW	1	87,029,247 (GRCm39)	missense	probably benign	0.05
R5427:Alpi	UTSW	1	87,029,076 (GRCm39)	missense	probably benign	0.04
R6245:Alpi	UTSW	1	87,028,556 (GRCm39)	missense	probably damaging	1.00
R6394:Alpi	UTSW	1	87,028,428 (GRCm39)	missense	possibly damaging	0.71
R6398:Alpi	UTSW	1	87,027,184 (GRCm39)	missense	probably damaging	0.98
R6616:Alpi	UTSW	1	87,028,836 (GRCm39)	missense	possibly damaging	0.81
R7168:Alpi	UTSW	1	87,027,155 (GRCm39)	missense	possibly damaging	0.94
R7448:Alpi	UTSW	1	87,029,257 (GRCm39)	start codon destroyed	possibly damaging	0.79
R7473:Alpi	UTSW	1	87,027,369 (GRCm39)	critical splice donor site	probably null
R7527:Alpi	UTSW	1	87,026,677 (GRCm39)	missense	probably benign	0.01
R7552:Alpi	UTSW	1	87,026,795 (GRCm39)	missense	probably benign	0.00
R8008:Alpi	UTSW	1	87,026,384 (GRCm39)	missense	unknown
R8693:Alpi	UTSW	1	87,026,405 (GRCm39)	missense	unknown
R8698:Alpi	UTSW	1	87,028,208 (GRCm39)	missense	probably damaging	1.00
R9071:Alpi	UTSW	1	87,026,584 (GRCm39)	missense	probably damaging	0.97
R9342:Alpi	UTSW	1	87,026,386 (GRCm39)	missense	unknown
R9528:Alpi	UTSW	1	87,026,772 (GRCm39)	critical splice donor site	probably null
R9733:Alpi	UTSW	1	87,028,516 (GRCm39)	missense	probably benign	0.09
X0052:Alpi	UTSW	1	87,027,923 (GRCm39)	missense	probably damaging	1.00
X0057:Alpi	UTSW	1	87,028,800 (GRCm39)	missense	probably damaging	1.00
Z1176:Alpi	UTSW	1	87,026,794 (GRCm39)	missense	probably benign	0.05

Posted On

2016-08-02