Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01972:Alpi'

181659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alpi

Ensembl Gene

ENSMUSG00000079440

Gene Name

alkaline phosphatase, intestinal

Synonyms

2010001C14Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL01972

Quality Score

Status

Chromosome

Chromosomal Location

87098002-87101606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87099709 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 312 (T312S)

Ref Sequence

ENSEMBL: ENSMUSP00000108895 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113270
AA Change: T312S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: T312S

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahr	T	G	12: 35,504,449	D557A	possibly damaging	Het
Akap11	T	C	14: 78,507,857	Q1697R	probably damaging	Het
Cacna1b	C	A	2: 24,635,095		probably null	Het
Car5a	C	T	8: 121,927,082		probably null	Het
Cubn	T	C	2: 13,446,072	T841A	possibly damaging	Het
Eml6	A	T	11: 29,838,451	F545I	possibly damaging	Het
Fam114a2	G	A	11: 57,509,394	T156I	probably damaging	Het
Fam160a2	T	C	7: 105,390,145	N5S	probably damaging	Het
Fbxl21	C	T	13: 56,536,859	R259*	probably null	Het
Gm5117	C	T	8: 31,737,759		noncoding transcript	Het
Hc	T	C	2: 34,983,772	Y1650C	probably damaging	Het
Med12l	C	A	3: 59,261,893	T1568K	probably damaging	Het
Olfr429	G	T	1: 174,089,421	C127F	probably damaging	Het
Olfr701	A	G	7: 106,818,532	I150V	probably benign	Het
Olfr996	T	C	2: 85,579,773	F178S	probably damaging	Het
Orm3	A	G	4: 63,359,326	S184G	probably benign	Het
Padi1	A	G	4: 140,818,859		probably benign	Het
Rnf133	T	C	6: 23,648,989	T357A	probably benign	Het
Skiv2l2	T	C	13: 112,881,061	K853E	probably damaging	Het
Tmem17	A	G	11: 22,517,265	S60G	probably benign	Het
Ubqlnl	G	T	7: 104,149,697	Q198K	probably benign	Het
Vmn1r69	A	T	7: 10,580,659	Y48*	probably null	Het
Zfp658	G	A	7: 43,572,710	W136*	probably null	Het

Other mutations in Alpi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Alpi	APN	1	87099720	missense	probably damaging	1.00
IGL02672:Alpi	APN	1	87101272	missense	probably damaging	1.00
IGL03089:Alpi	APN	1	87100108	missense	probably benign	0.05
IGL03099:Alpi	APN	1	87098631	missense	unknown
IGL03154:Alpi	APN	1	87100088	missense	probably damaging	1.00
IGL03372:Alpi	APN	1	87100628	splice site	probably benign
K7371:Alpi	UTSW	1	87099171	splice site	probably benign
R0053:Alpi	UTSW	1	87098790	missense	probably benign	0.03
R0054:Alpi	UTSW	1	87099765	missense	possibly damaging	0.61
R0070:Alpi	UTSW	1	87101159	splice site	probably benign
R1586:Alpi	UTSW	1	87100201	missense	probably damaging	1.00
R1835:Alpi	UTSW	1	87099414	missense	possibly damaging	0.88
R2372:Alpi	UTSW	1	87100594	missense	probably damaging	1.00
R4546:Alpi	UTSW	1	87099117	missense	probably damaging	1.00
R4861:Alpi	UTSW	1	87100469	missense	probably damaging	0.98
R4861:Alpi	UTSW	1	87100469	missense	probably damaging	0.98
R4968:Alpi	UTSW	1	87101525	missense	probably benign	0.05
R5427:Alpi	UTSW	1	87101354	missense	probably benign	0.04
R6245:Alpi	UTSW	1	87100834	missense	probably damaging	1.00
R6394:Alpi	UTSW	1	87100706	missense	possibly damaging	0.71
R6398:Alpi	UTSW	1	87099462	missense	probably damaging	0.98
R6616:Alpi	UTSW	1	87101114	missense	possibly damaging	0.81
R7168:Alpi	UTSW	1	87099433	missense	possibly damaging	0.94
R7448:Alpi	UTSW	1	87101535	start codon destroyed	possibly damaging	0.79
R7473:Alpi	UTSW	1	87099647	critical splice donor site	probably null
R7527:Alpi	UTSW	1	87098955	missense	probably benign	0.01
R7552:Alpi	UTSW	1	87099073	missense	probably benign	0.00
R8008:Alpi	UTSW	1	87098662	missense	unknown
X0052:Alpi	UTSW	1	87100201	missense	probably damaging	1.00
X0057:Alpi	UTSW	1	87101078	missense	probably damaging	1.00
Z1176:Alpi	UTSW	1	87099072	missense	probably benign	0.05

Posted On

2014-05-07