Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Alpi'

201452

Institutional Source

Beutler Lab

Gene Symbol

Alpi

Ensembl Gene

ENSMUSG00000079440

Gene Name

alkaline phosphatase, intestinal

Synonyms

2010001C14Rik

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

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

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87025724-87029328 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 87028881 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

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (68/70)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Cmip	T	A	8: 118,153,293 (GRCm39)	I270N	probably damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah9	A	G	11: 66,050,866 (GRCm39)	V142A	probably benign	Het
Dnai4	A	T	4: 102,917,131 (GRCm39)	I571K	probably damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm10238	A	G	15: 75,109,434 (GRCm39)		noncoding transcript	Het
Gm4787	T	A	12: 81,425,840 (GRCm39)	D106V	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Ifna11	A	G	4: 88,738,512 (GRCm39)	D106G	possibly damaging	Het
Igkv1-115	G	A	6: 68,138,402 (GRCm39)	V2I	probably benign	Het
Itga6	T	C	2: 71,657,060 (GRCm39)		probably benign	Het
Kcnj6	C	A	16: 94,742,056 (GRCm39)	K5N	probably benign	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,380 (GRCm39)		probably null	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Orm3	A	G	4: 63,274,883 (GRCm39)	T64A	probably benign	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Phldb1	C	T	9: 44,619,201 (GRCm39)	R844H	probably damaging	Het
Piezo2	T	C	18: 63,235,155 (GRCm39)	D814G	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pth1r	A	T	9: 110,556,618 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Rnf32	A	G	5: 29,430,125 (GRCm39)	T315A	probably benign	Het
Rpl5	T	C	5: 108,049,766 (GRCm39)	Y12H	probably benign	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sf3a3	G	A	4: 124,608,748 (GRCm39)	V21I	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slitrk1	T	C	14: 109,150,749 (GRCm39)		probably benign	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Sprr3	C	T	3: 92,364,609 (GRCm39)	M78I	probably benign	Het
Ssmem1	A	G	6: 30,519,420 (GRCm39)	E35G	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,644,771 (GRCm39)		probably null	Het
Tusc3	G	A	8: 39,530,421 (GRCm39)	G129R	possibly damaging	Het
Uspl1	A	G	5: 149,146,515 (GRCm39)	Y422C	probably damaging	Het
Vmn2r88	A	T	14: 51,651,597 (GRCm39)	T312S	probably benign	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zfp947	T	A	17: 22,365,165 (GRCm39)	T170S	probably benign	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
IGL03372:Alpi	APN	1	87,028,350 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCCTTGACCCCACAGAGATAG -3'
(R):5'- TGCAGCCCATTCAGACATCAGC -3'

Sequencing Primer
(F):5'- ACACTGTCCTGGTTGCAAAC -3'
(R):5'- AGCTAAGAACCTCATCATCTTCCTG -3'

Posted On

2014-06-10