Mutagenetix > Incidental Mutations

Incidental Mutation 'R0053:Alpi'

218404

Institutional Source

Beutler Lab

Gene Symbol

Alpi

Ensembl Gene

ENSMUSG00000079440

Gene Name

alkaline phosphatase, intestinal

Synonyms

2010001C14Rik

MMRRC Submission

038347-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0053 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87098002-87101606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87098790 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 493 (D493G)

Ref Sequence

ENSEMBL: ENSMUSP00000108895 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113270
AA Change: D493G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: D493G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (67/67)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	A	6: 149,327,590	D711E	probably benign	Het
5730559C18Rik	C	T	1: 136,227,550	V106I	probably benign	Het
Ada	A	T	2: 163,732,292	V148D	probably damaging	Het
Atp10b	A	G	11: 43,216,564		probably benign	Het
AY761185	A	T	8: 20,944,530		probably benign	Het
BC067074	T	C	13: 113,368,489	W2051R	probably benign	Het
Cadm1	C	T	9: 47,799,414	T205I	probably damaging	Het
Capn3	A	G	2: 120,491,837	I413V	possibly damaging	Het
Cblb	C	T	16: 52,142,801	T369I	probably damaging	Het
Ccdc54	T	A	16: 50,590,234	N223I	probably benign	Het
Cdc25c	A	G	18: 34,735,435	V294A	probably benign	Het
Cep170	A	T	1: 176,782,380	S122T	possibly damaging	Het
Chd1	A	G	17: 15,747,189	N849D	probably damaging	Het
Dpp3	A	G	19: 4,923,126	C147R	probably damaging	Het
Dst	A	G	1: 34,294,550		probably null	Het
Fbxw9	T	A	8: 85,064,454	L250Q	probably damaging	Het
Gpr75	A	T	11: 30,892,571	Q492L	possibly damaging	Het
Gramd4	T	A	15: 86,130,138		probably benign	Het
Hivep2	T	C	10: 14,132,121	C1488R	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Insr	A	G	8: 3,155,683	S1369P	probably damaging	Het
Insrr	A	C	3: 87,800,452	D67A	probably damaging	Het
Irf2	T	A	8: 46,818,851	Y158N	probably benign	Het
Katnbl1	A	G	2: 112,404,241	R23G	probably benign	Het
Lamb2	T	A	9: 108,486,737	C987*	probably null	Het
Lzts2	T	C	19: 45,026,307		probably benign	Het
Mmp14	T	A	14: 54,438,652		probably benign	Het
Mycbpap	A	G	11: 94,511,736	Y258H	probably damaging	Het
Nav3	A	G	10: 109,766,917		probably benign	Het
Olfr1186	T	A	2: 88,526,163	N193K	probably damaging	Het
Olfr1406	T	C	1: 173,184,278	D52G	probably benign	Het
Parp10	T	A	15: 76,242,246	L247F	probably damaging	Het
Pcsk6	C	T	7: 65,983,703		probably benign	Het
Pgap3	A	T	11: 98,391,098	V129D	probably damaging	Het
Pibf1	A	G	14: 99,140,557	Y373C	probably damaging	Het
Plcb1	A	G	2: 135,294,915	E310G	probably benign	Het
Plin3	T	C	17: 56,279,892	D385G	probably damaging	Het
Pole	A	T	5: 110,293,340	D220V	probably damaging	Het
Ptprk	T	A	10: 28,475,109	F533I	probably damaging	Het
Rufy1	A	T	11: 50,401,465	M499K	probably benign	Het
Scn1a	T	G	2: 66,299,775	D1232A	probably benign	Het
Sec23ip	T	C	7: 128,745,167	L49P	probably damaging	Het
Sf3b1	G	A	1: 55,000,373	Q698*	probably null	Het
Shprh	A	T	10: 11,194,372		probably null	Het
Snd1	C	A	6: 28,745,335		probably benign	Het
Stab1	C	T	14: 31,140,687	A2260T	possibly damaging	Het
Stpg2	A	G	3: 139,212,321	Q60R	probably benign	Het
Strn	T	C	17: 78,656,934	H687R	possibly damaging	Het
Tgfb3	A	T	12: 86,077,829	I35N	probably damaging	Het
Tnks2	T	C	19: 36,875,365	S166P	probably damaging	Het
Tyw5	G	A	1: 57,401,438	T55M	probably damaging	Het
Usp19	A	G	9: 108,497,170		probably null	Het
Zfp13	A	T	17: 23,576,148	I483N	probably damaging	Het

Other mutations in Alpi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Alpi	APN	1	87099720	missense	probably damaging	1.00
IGL01972:Alpi	APN	1	87099709	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
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

Predicted Primers

PCR Primer
(F):5'- CCCTTGTGTAGAAAACGGTGAACCC -3'
(R):5'- CAGATGGACGCTGCTCTCCTAAAC -3'

Sequencing Primer
(F):5'- AACCCGGAACTGATTGGGC -3'
(R):5'- TCCCTAGTTGATCCCAACTACAAG -3'

Posted On

2014-08-06