Mutagenetix > Incidental Mutations

Incidental Mutation 'R4861:Alpi'

380235

Institutional Source

Beutler Lab

Gene Symbol

Alpi

Ensembl Gene

ENSMUSG00000079440

Gene Name

alkaline phosphatase, intestinal

Synonyms

2010001C14Rik

MMRRC Submission

042472-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4861 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

87098002-87101606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87100469 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 211 (I211F)

Ref Sequence

ENSEMBL: ENSMUSP00000108895 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113270
AA Change: I211F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: I211F

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

0.2656

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.2%
20x: 84.7%

Validation Efficiency

100% (53/53)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,245,905	R1153H	probably damaging	Het
Ahcy	T	C	2: 155,060,516	E411G	probably benign	Het
Arfgef3	G	A	10: 18,607,731	A1415V	probably benign	Het
Car3	T	C	3: 14,866,896	V109A	probably damaging	Het
Ccdc114	A	G	7: 45,942,873	E359G	probably damaging	Het
Cdk13	A	T	13: 17,766,586	V17D	probably damaging	Het
Cept1	A	C	3: 106,505,732	S226A	probably damaging	Het
Dbt	A	T	3: 116,548,078	I443L	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Farp2	T	C	1: 93,605,419	L633S	probably damaging	Het
Frmd6	T	G	12: 70,893,726	S382A	probably damaging	Het
Gm26727	T	C	2: 67,432,945	I79M	probably damaging	Het
Gm5800	T	A	14: 51,716,047	N37I	probably damaging	Het
Hapln1	G	A	13: 89,601,452	G39S	possibly damaging	Het
Ice2	T	A	9: 69,415,448	S408R	probably benign	Het
Lctl	T	C	9: 64,119,763	I131T	possibly damaging	Het
Mvk	C	T	5: 114,460,197		probably benign	Het
Mzt1	T	C	14: 99,047,474		probably null	Het
Ncoa7	T	A	10: 30,704,612	M117L	probably benign	Het
Npy4r	C	T	14: 34,146,883	W149*	probably null	Het
Nr5a2	A	G	1: 136,948,720		probably null	Het
Plg	G	A	17: 12,395,735	E301K	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Rapgef2	T	C	3: 79,074,436	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,316,458	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,336,233	C170S	probably benign	Het
Slco1b2	A	T	6: 141,671,222	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090	R571H	probably benign	Het
Sp4	G	T	12: 118,300,811		probably null	Het
Tas2r117	T	C	6: 132,803,129	F77L	probably benign	Het
Tbcd	C	T	11: 121,601,961	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,026,801	S453P	probably benign	Het
Vars2	G	T	17: 35,661,933	Q13K	probably benign	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
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
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'- ACCATGTCTGTGGGTTATGC -3'
(R):5'- GTACCGTGCCAAGAAAGCAG -3'

Sequencing Primer
(F):5'- ACCATGTCTGTGGGTTATGCATCTC -3'
(R):5'- CAGGGTCACTGGATGATCTTCTATC -3'

Posted On

2016-04-15