Mutagenetix > Incidental Mutation

Incidental Mutation 'R8008:Alpi'

616720

Institutional Source

Beutler Lab

Gene Symbol

Alpi

Ensembl Gene

ENSMUSG00000079440

Gene Name

alkaline phosphatase, intestinal

Synonyms

2010001C14Rik

MMRRC Submission

046048-MU

Accession Numbers

Essential gene?

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

Stock #

R8008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87025724-87029328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87026384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 536 (S536P)

Ref Sequence

ENSEMBL: ENSMUSP00000108895 (fasta)

Gene Model

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

AlphaFold

F8VPQ6

Predicted Effect

unknown
Transcript: ENSMUST00000113270
AA Change: S536P

SMART Domains

Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: S536P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
Ankar	A	G	1: 72,705,643 (GRCm39)	V789A	possibly damaging	Het
Atp5f1b	C	A	10: 127,919,277 (GRCm39)	Q28K	unknown	Het
Brpf1	T	C	6: 113,296,050 (GRCm39)	V781A	probably benign	Het
Cd177	G	A	7: 24,451,774 (GRCm39)	S414L	not run	Het
Cimip3	T	A	17: 47,747,661 (GRCm39)	E28V	probably damaging	Het
Clca3b	T	A	3: 144,550,370 (GRCm39)	T192S	probably benign	Het
Coro2a	A	T	4: 46,551,349 (GRCm39)	S119T	probably damaging	Het
Cpped1	T	C	16: 11,646,260 (GRCm39)	N164S	probably damaging	Het
Crybg2	T	A	4: 133,818,415 (GRCm39)	N1390K	probably damaging	Het
Epn2	C	T	11: 61,437,492 (GRCm39)	A27T	probably damaging	Het
Esp34	T	C	17: 38,870,490 (GRCm39)	F128S	possibly damaging	Het
Evpl	T	A	11: 116,121,298 (GRCm39)	N410Y	probably null	Het
Flnb	A	G	14: 7,892,155 (GRCm38)	Y608C	probably damaging	Het
Fpr3	T	C	17: 18,191,715 (GRCm39)	S329P	probably benign	Het
Frem2	T	A	3: 53,560,331 (GRCm39)	N1392I	probably damaging	Het
Garin2	T	A	12: 78,761,817 (GRCm39)	D160E	probably benign	Het
Gpi1	G	T	7: 33,917,726 (GRCm39)	N249K	probably damaging	Het
Gpr87	T	C	3: 59,087,466 (GRCm39)	N13S	probably benign	Het
Gys2	T	C	6: 142,400,243 (GRCm39)	T323A	probably damaging	Het
Iqgap3	T	C	3: 88,016,770 (GRCm39)	I1084T	probably damaging	Het
Lrfn4	C	G	19: 4,663,565 (GRCm39)	G323A	probably benign	Het
Lrrc4c	A	T	2: 97,460,594 (GRCm39)	S407C	possibly damaging	Het
Map3k20	A	T	2: 72,268,613 (GRCm39)	Q540L	probably benign	Het
Myom1	T	C	17: 71,407,057 (GRCm39)	V1158A	probably benign	Het
Ncor2	T	C	5: 125,144,983 (GRCm39)	D378G	unknown	Het
Nhsl1	T	A	10: 18,284,186 (GRCm39)	D42E	probably damaging	Het
Nr0b2	C	A	4: 133,283,339 (GRCm39)	A192E	probably benign	Het
Nt5c1b	A	G	12: 10,425,000 (GRCm39)	D182G	possibly damaging	Het
Or12d14-ps1	T	C	17: 37,673,265 (GRCm39)	S86P	probably damaging	Het
Or4c115	A	T	2: 88,928,059 (GRCm39)	C71S	probably benign	Het
Or5b119	T	C	19: 13,457,170 (GRCm39)	T131A	probably benign	Het
Or5k15	T	C	16: 58,710,251 (GRCm39)	T111A	probably benign	Het
Or8b12	A	T	9: 37,658,089 (GRCm39)	I220F	probably damaging	Het
Pepd	A	G	7: 34,721,126 (GRCm39)	N250S	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pmp22	C	T	11: 63,049,233 (GRCm39)	R159C	probably damaging	Het
Pou3f1	C	T	4: 124,552,764 (GRCm39)	A422V	unknown	Het
Rab11fip3	A	G	17: 26,286,956 (GRCm39)	L399P	probably damaging	Het
Rragc	A	G	4: 123,829,340 (GRCm39)	D352G	probably damaging	Het
Ryr2	A	G	13: 11,671,980 (GRCm39)	V3420A	probably benign	Het
Sez6	T	A	11: 77,864,082 (GRCm39)	Y521*	probably null	Het
Smc4	T	C	3: 68,914,645 (GRCm39)	V86A	probably damaging	Het
Stap2	T	A	17: 56,304,790 (GRCm39)	M331L	probably benign	Het
Syt8	G	A	7: 141,992,259 (GRCm39)	R89H	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trim21	G	T	7: 102,209,183 (GRCm39)	T280K	probably benign	Het
Trim36	C	A	18: 46,305,556 (GRCm39)	V476F	probably benign	Het
Troap	G	T	15: 98,973,511 (GRCm39)	R56L	probably benign	Het
Ttn	A	T	2: 76,667,130 (GRCm39)	I11492K	unknown	Het
Tuft1	T	C	3: 94,521,440 (GRCm39)	T390A	probably damaging	Het
Ucp1	T	C	8: 84,020,640 (GRCm39)	I150T	probably benign	Het
Usp17lb	A	T	7: 104,490,481 (GRCm39)	C149S	possibly damaging	Het
Vmn1r159	A	T	7: 22,542,665 (GRCm39)	N122K	possibly damaging	Het
Vmn1r237	T	C	17: 21,534,456 (GRCm39)	C60R	probably damaging	Het
Wdr12	A	T	1: 60,128,494 (GRCm39)	Y85*	probably null	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Wdr97	G	A	15: 76,244,832 (GRCm39)	E1125K		Het
Zan	T	C	5: 137,403,624 (GRCm39)	E3974G	unknown	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
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
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'- TGAACCCGGAACTGATTGG -3'
(R):5'- AGGACGTGGCCATATTTGC -3'

Sequencing Primer
(F):5'- ACTGATTGGGCTCAGGAAATCTATG -3'
(R):5'- GTTCAGGAGCAGAACTACATCGC -3'

Posted On

2020-01-23