Mutagenetix > Incidental Mutation

Incidental Mutation 'R0736:Pik3ap1'

67312

Institutional Source

Beutler Lab

Gene Symbol

Pik3ap1

Ensembl Gene

ENSMUSG00000025017

Gene Name

phosphoinositide-3-kinase adaptor protein 1

Synonyms

BCAP, 1810044J04Rik

MMRRC Submission

038917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41260980-41373541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41320758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 154 (T154S)

Ref Sequence

ENSEMBL: ENSMUSP00000052777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059672]

AlphaFold

Q9EQ32

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059672
AA Change: T154S

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: T154S

Domain	Start	End	E-Value	Type
DBB	180	319	8.55e-75	SMART
SCOP:d1bd8__	331	396	8e-5	SMART
Blast:ANK	336	365	1e-7	BLAST
low complexity region	533	552	N/A	INTRINSIC
low complexity region	716	740	N/A	INTRINSIC
low complexity region	802	808	N/A	INTRINSIC

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.6%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in B cell maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amn1	G	A	6: 149,084,970 (GRCm39)	H37Y	possibly damaging	Het
Cacna2d3	A	T	14: 28,780,585 (GRCm39)	H644Q	probably benign	Het
Calb1	G	A	4: 15,898,917 (GRCm39)	V138M	probably benign	Het
Cep55	C	A	19: 38,061,765 (GRCm39)	T402N	probably benign	Het
Chrnb3	G	A	8: 27,875,078 (GRCm39)	A26T	probably benign	Het
Col6a3	C	T	1: 90,731,811 (GRCm39)	V1481I	possibly damaging	Het
Dmxl2	C	T	9: 54,286,101 (GRCm39)	V2695I	probably damaging	Het
Elapor2	A	T	5: 9,491,745 (GRCm39)	S702C	probably damaging	Het
Heatr5a	A	C	12: 51,943,344 (GRCm39)		probably null	Het
Kmt2c	C	T	5: 25,500,432 (GRCm39)	M461I	probably benign	Het
Mapk9	G	A	11: 49,774,081 (GRCm39)	D413N	possibly damaging	Het
Morc4	G	T	X: 138,755,700 (GRCm39)	Q239K	probably benign	Het
Myt1l	T	A	12: 29,877,813 (GRCm39)	V488D	unknown	Het
Neb	A	T	2: 52,082,024 (GRCm39)	Y24N	probably damaging	Het
Neo1	G	A	9: 58,824,364 (GRCm39)	P688L	possibly damaging	Het
Nlrp9b	A	T	7: 19,783,375 (GRCm39)	D409V	probably damaging	Het
Pcare	A	G	17: 72,051,659 (GRCm39)	V1231A	probably benign	Het
Pde7a	T	C	3: 19,285,207 (GRCm39)	N327D	probably damaging	Het
Pdzd8	C	A	19: 59,333,365 (GRCm39)	V219L	probably damaging	Het
Pgc	T	A	17: 48,039,705 (GRCm39)	M33K	probably damaging	Het
Polm	G	C	11: 5,785,495 (GRCm39)	S188C	possibly damaging	Het
Slfn1	A	T	11: 83,011,907 (GRCm39)	T8S	probably benign	Het
St8sia6	C	T	2: 13,673,696 (GRCm39)	V179M	probably benign	Het
Tns3	A	T	11: 8,469,474 (GRCm39)	F274I	possibly damaging	Het
Tspan5	T	C	3: 138,574,159 (GRCm39)		probably null	Het
Utp14b	A	G	1: 78,642,989 (GRCm39)	K296E	probably damaging	Het
Zbtb14	A	G	17: 69,694,797 (GRCm39)	E165G	possibly damaging	Het
Zbtb17	C	A	4: 141,189,097 (GRCm39)	H6N	probably damaging	Het
Zw10	C	T	9: 48,975,432 (GRCm39)	H286Y	probably benign	Het

Other mutations in Pik3ap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Pik3ap1	APN	19	41,364,329 (GRCm39)	missense	possibly damaging	0.95
IGL01697:Pik3ap1	APN	19	41,313,018 (GRCm39)	missense	probably damaging	1.00
IGL01743:Pik3ap1	APN	19	41,281,267 (GRCm39)	splice site	probably benign
IGL02006:Pik3ap1	APN	19	41,291,032 (GRCm39)	missense	probably benign
IGL02507:Pik3ap1	APN	19	41,270,451 (GRCm39)	splice site	probably benign
IGL02601:Pik3ap1	APN	19	41,290,881 (GRCm39)	missense	probably benign	0.08
Canvasback	UTSW	19	41,310,069 (GRCm39)	missense	possibly damaging	0.80
Eiderdown	UTSW	19	41,312,924 (GRCm39)	splice site	silent
Pintail	UTSW	19	41,364,585 (GRCm39)	missense	probably benign	0.00
Scaup	UTSW	19	41,320,760 (GRCm39)	missense	probably damaging	1.00
Scoter	UTSW	19	41,310,024 (GRCm39)	missense	probably damaging	1.00
sooni	UTSW	19	41,316,348 (GRCm39)	missense	probably damaging	1.00
sothe	UTSW	19	41,356,683 (GRCm38)	intron	probably benign
FR4449:Pik3ap1	UTSW	19	41,270,385 (GRCm39)	small insertion	probably benign
FR4548:Pik3ap1	UTSW	19	41,270,384 (GRCm39)	small insertion	probably benign
FR4976:Pik3ap1	UTSW	19	41,270,384 (GRCm39)	small insertion	probably benign
R0504:Pik3ap1	UTSW	19	41,275,929 (GRCm39)	missense	probably damaging	1.00
R0505:Pik3ap1	UTSW	19	41,313,003 (GRCm39)	missense	probably damaging	1.00
R0926:Pik3ap1	UTSW	19	41,290,964 (GRCm39)	missense	probably benign	0.00
R1521:Pik3ap1	UTSW	19	41,309,997 (GRCm39)	missense	probably damaging	1.00
R1681:Pik3ap1	UTSW	19	41,296,968 (GRCm39)	missense	probably damaging	1.00
R1779:Pik3ap1	UTSW	19	41,320,673 (GRCm39)	missense	probably damaging	1.00
R1924:Pik3ap1	UTSW	19	41,291,053 (GRCm39)	missense	possibly damaging	0.79
R1945:Pik3ap1	UTSW	19	41,262,776 (GRCm39)	missense	probably benign
R2327:Pik3ap1	UTSW	19	41,284,828 (GRCm39)	missense	probably damaging	0.99
R2891:Pik3ap1	UTSW	19	41,364,500 (GRCm39)	missense	probably benign	0.00
R2892:Pik3ap1	UTSW	19	41,364,500 (GRCm39)	missense	probably benign	0.00
R2893:Pik3ap1	UTSW	19	41,364,500 (GRCm39)	missense	probably benign	0.00
R2894:Pik3ap1	UTSW	19	41,364,500 (GRCm39)	missense	probably benign	0.00
R2918:Pik3ap1	UTSW	19	41,290,970 (GRCm39)	missense	probably benign	0.00
R4424:Pik3ap1	UTSW	19	41,364,320 (GRCm39)	missense	probably benign	0.00
R4654:Pik3ap1	UTSW	19	41,316,348 (GRCm39)	missense	probably damaging	1.00
R4811:Pik3ap1	UTSW	19	41,290,936 (GRCm39)	missense	possibly damaging	0.67
R4855:Pik3ap1	UTSW	19	41,316,284 (GRCm39)	missense	probably benign	0.13
R4885:Pik3ap1	UTSW	19	41,364,365 (GRCm39)	missense	probably benign	0.28
R5119:Pik3ap1	UTSW	19	41,270,415 (GRCm39)	missense	probably benign	0.18
R5261:Pik3ap1	UTSW	19	41,364,545 (GRCm39)	missense	probably damaging	1.00
R5274:Pik3ap1	UTSW	19	41,270,391 (GRCm39)	missense	possibly damaging	0.67
R5655:Pik3ap1	UTSW	19	41,286,680 (GRCm39)	missense	possibly damaging	0.65
R5862:Pik3ap1	UTSW	19	41,320,784 (GRCm39)	missense	probably damaging	1.00
R5924:Pik3ap1	UTSW	19	41,284,895 (GRCm39)	missense	probably damaging	1.00
R6015:Pik3ap1	UTSW	19	41,316,640 (GRCm39)	missense	probably benign	0.22
R6018:Pik3ap1	UTSW	19	41,373,455 (GRCm39)	start gained	probably benign
R6515:Pik3ap1	UTSW	19	41,364,585 (GRCm39)	missense	probably benign	0.00
R6792:Pik3ap1	UTSW	19	41,310,065 (GRCm39)	missense	probably benign	0.14
R7135:Pik3ap1	UTSW	19	41,320,760 (GRCm39)	missense	probably damaging	1.00
R7162:Pik3ap1	UTSW	19	41,309,965 (GRCm39)	missense	probably benign	0.03
R7175:Pik3ap1	UTSW	19	41,275,929 (GRCm39)	missense	probably damaging	0.98
R7313:Pik3ap1	UTSW	19	41,284,815 (GRCm39)	missense	possibly damaging	0.93
R7664:Pik3ap1	UTSW	19	41,310,069 (GRCm39)	missense	possibly damaging	0.80
R7786:Pik3ap1	UTSW	19	41,310,024 (GRCm39)	missense	probably damaging	1.00
R8375:Pik3ap1	UTSW	19	41,316,538 (GRCm39)	missense	probably damaging	1.00
R8707:Pik3ap1	UTSW	19	41,313,039 (GRCm39)	missense	probably damaging	0.99
R8770:Pik3ap1	UTSW	19	41,316,599 (GRCm39)	missense	possibly damaging	0.88
R9015:Pik3ap1	UTSW	19	41,270,430 (GRCm39)	missense	probably damaging	1.00
R9100:Pik3ap1	UTSW	19	41,312,924 (GRCm39)	splice site	silent
R9369:Pik3ap1	UTSW	19	41,317,743 (GRCm39)	missense	probably damaging	1.00
R9664:Pik3ap1	UTSW	19	41,296,967 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGGCACATACACTCCCAGGTTC -3'
(R):5'- ACTTTAGCGATCCGGTCCCTTCAG -3'

Sequencing Primer
(F):5'- CTTAAAGAAGCTACTCGTGTCCG -3'
(R):5'- AGCTTGCATCTGTGTAGCC -3'

Posted On

2013-09-03