Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Alpi'

205128

Institutional Source

Beutler Lab

Gene Symbol

Alpi

Ensembl Gene

ENSMUSG00000079440

Gene Name

alkaline phosphatase, intestinal

Synonyms

2010001C14Rik

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

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

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87025724-87029328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87027136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 381 (V381A)

Ref Sequence

ENSEMBL: ENSMUSP00000108895 (fasta)

Gene Model

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

AlphaFold

F8VPQ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113270
AA Change: V381A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: V381A

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: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam4	T	C	12: 81,466,333 (GRCm39)	I763V	probably benign	Het
Aipl1	T	G	11: 71,921,325 (GRCm39)	K190T	possibly damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Ankfn1	A	T	11: 89,338,444 (GRCm39)	S365R	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Apc	T	A	18: 34,450,130 (GRCm39)	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,822,098 (GRCm39)	V501I	probably benign	Het
Baz2b	T	C	2: 59,732,163 (GRCm39)	E1994G	probably benign	Het
Bltp2	G	T	11: 78,178,576 (GRCm39)	V1993F	probably damaging	Het
Cacna1a	T	C	8: 85,307,986 (GRCm39)		probably null	Het
Cacna1h	C	A	17: 25,611,050 (GRCm39)	V583L	probably benign	Het
Cd55	T	C	1: 130,375,346 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,937,494 (GRCm39)	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,798,237 (GRCm39)	D1674V	probably benign	Het
Churc1	T	C	12: 76,820,071 (GRCm39)	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,986,604 (GRCm39)	I280T	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cyp2b9	A	G	7: 25,900,208 (GRCm39)	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813 (GRCm39)	R51G	probably damaging	Het
Ddb1	T	C	19: 10,603,957 (GRCm39)	V888A	probably damaging	Het
Disp1	A	G	1: 182,870,564 (GRCm39)	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,438,402 (GRCm39)	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,394,164 (GRCm39)	T143A	possibly damaging	Het
Eps8	T	A	6: 137,499,277 (GRCm39)	K204*	probably null	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Ergic2	T	A	6: 148,091,079 (GRCm39)	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,362,560 (GRCm39)	L274M	probably damaging	Het
Fat3	G	A	9: 15,909,384 (GRCm39)	T2206I	probably damaging	Het
Fat4	A	G	3: 39,037,720 (GRCm39)	I3791V	probably benign	Het
Gemin4	A	G	11: 76,104,122 (GRCm39)	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,025,723 (GRCm39)	M119V	probably benign	Het
Heatr5b	A	T	17: 79,080,992 (GRCm39)	L1420Q	probably damaging	Het
Herc2	G	T	7: 55,856,513 (GRCm39)	G3918*	probably null	Het
Ints9	A	G	14: 65,269,705 (GRCm39)	Y465C	probably damaging	Het
Ist1	A	G	8: 110,405,515 (GRCm39)	V175A	probably damaging	Het
Kcnj12	T	C	11: 60,960,383 (GRCm39)	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,536,611 (GRCm39)	S416G	probably benign	Het
Kdm3a	T	A	6: 71,590,940 (GRCm39)	T295S	probably benign	Het
Kif1c	T	A	11: 70,599,797 (GRCm39)	M479K	probably damaging	Het
Kif20b	T	C	19: 34,933,438 (GRCm39)	L83P	probably damaging	Het
Kndc1	A	G	7: 139,507,624 (GRCm39)	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,595,556 (GRCm39)	M81V	probably benign	Het
Map4k5	C	A	12: 69,871,436 (GRCm39)	M495I	probably damaging	Het
Mest	C	T	6: 30,742,790 (GRCm39)	R146C	probably benign	Het
Mettl24	T	A	10: 40,613,812 (GRCm39)		probably null	Het
Mical1	T	C	10: 41,359,531 (GRCm39)	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,239,694 (GRCm39)	Y77*	probably null	Het
Mss51	A	T	14: 20,533,246 (GRCm39)	C408*	probably null	Het
Myh6	T	C	14: 55,194,858 (GRCm39)	T666A	probably benign	Het
Myo10	T	C	15: 25,805,673 (GRCm39)	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,359,726 (GRCm39)	Y503*	probably null	Het
Neil1	A	C	9: 57,053,888 (GRCm39)	F144C	probably damaging	Het
Nipbl	T	A	15: 8,373,001 (GRCm39)	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nt5el	C	A	13: 105,218,702 (GRCm39)	A12E	unknown	Het
Ntng2	G	A	2: 29,087,069 (GRCm39)	Q384*	probably null	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or10j27	A	G	1: 172,958,382 (GRCm39)	V134A	probably benign	Het
Or13a22	A	G	7: 140,072,622 (GRCm39)	S24G	probably benign	Het
Or14j8	C	T	17: 38,263,276 (GRCm39)	G213E	possibly damaging	Het
Or1e22	A	C	11: 73,377,200 (GRCm39)	V150G	probably benign	Het
Or2j3	A	T	17: 38,616,203 (GRCm39)	S50T	probably benign	Het
Or2y1	A	T	11: 49,385,497 (GRCm39)	I46F	probably damaging	Het
Patj	A	G	4: 98,379,827 (GRCm39)	D151G	probably benign	Het
Plpbp	T	C	8: 27,539,259 (GRCm39)	V126A	probably damaging	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,486,650 (GRCm39)	S480A	probably damaging	Het
Pum1	T	C	4: 130,428,359 (GRCm39)	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,014,925 (GRCm39)	G353A	probably damaging	Het
Reln	C	A	5: 22,184,000 (GRCm39)	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,266,071 (GRCm39)	I9V	probably benign	Het
Ryr2	T	C	13: 11,784,764 (GRCm39)	H1063R	probably benign	Het
Samd14	C	G	11: 94,914,426 (GRCm39)	D361E	probably damaging	Het
Samd15	A	T	12: 87,248,617 (GRCm39)	N365I	probably damaging	Het
Sec16b	A	G	1: 157,358,882 (GRCm39)	H105R	probably benign	Het
Sez6	T	C	11: 77,844,329 (GRCm39)	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,789,350 (GRCm39)	L236Q	probably damaging	Het
Sspo	C	T	6: 48,434,274 (GRCm39)	T991I	probably damaging	Het
Suco	A	T	1: 161,687,069 (GRCm39)	L97*	probably null	Het
Tab1	C	A	15: 80,032,497 (GRCm39)	R35S	probably benign	Het
Tet3	C	A	6: 83,381,145 (GRCm39)	S341I	possibly damaging	Het
Tlr1	A	T	5: 65,083,043 (GRCm39)	D511E	probably benign	Het
Tmem132b	A	C	5: 125,862,963 (GRCm39)	D656A	probably damaging	Het
Tmtc4	T	A	14: 123,179,400 (GRCm39)		probably null	Het
Trmo	T	C	4: 46,380,158 (GRCm39)	T404A	probably damaging	Het
Trpm1	A	G	7: 63,880,016 (GRCm39)	K790E	probably damaging	Het
Ulk4	C	A	9: 120,997,250 (GRCm39)	R774M	probably null	Het
Ush2a	C	T	1: 188,184,015 (GRCm39)	L1440F	probably benign	Het
Usp16	A	G	16: 87,277,795 (GRCm39)	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511 (GRCm39)	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,565,111 (GRCm39)	I255N	probably damaging	Het
Vmn2r61	A	T	7: 41,916,076 (GRCm39)	R230*	probably null	Het
Vps13c	T	A	9: 67,900,295 (GRCm39)	F3671L	probably benign	Het
Washc5	T	C	15: 59,231,189 (GRCm39)	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,058,899 (GRCm39)	K331E	probably damaging	Het
Zfp986	A	T	4: 145,625,805 (GRCm39)	K155I	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
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
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'- GGAAGAAGGCAGACATCTTTTC -3'
(R):5'- TCATCACTGGCTTCCTGCAG -3'

Sequencing Primer
(F):5'- CCTGATACTGACTACAGCTTTTGGAG -3'
(R):5'- CTTCCTGCAGGGGGTCGTATTG -3'

Posted On

2014-06-23