Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Pik3ap1'

720399

Institutional Source

Beutler Lab

Gene Symbol

Pik3ap1

Ensembl Gene

ENSMUSG00000025017

Gene Name

phosphoinositide-3-kinase adaptor protein 1

Synonyms

BCAP, 1810044J04Rik

MMRRC Submission

068914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41260980-41373541 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 41312924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

at position 396

Ref Sequence

ENSEMBL: ENSMUSP00000052777 (fasta)

Gene Model

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

AlphaFold

Q9EQ32

Predicted Effect

silent
Transcript: ENSMUST00000059672
AA Change: 396

SMART Domains

Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: 396

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

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

Validation Efficiency

96% (75/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,853,800 (GRCm39)	V444A	possibly damaging	Het
Add1	T	A	5: 34,770,622 (GRCm39)		probably benign	Het
Adgrg3	A	G	8: 95,762,891 (GRCm39)		probably benign	Het
Adgrl3	A	C	5: 81,842,299 (GRCm39)	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,236,806 (GRCm39)	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,541,476 (GRCm39)	N11S		Het
B3gnt6	T	A	7: 97,843,958 (GRCm39)	M1L	not run	Het
Bltp1	A	G	3: 37,098,907 (GRCm39)	K1256R		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdca8	T	C	4: 124,830,238 (GRCm39)	T45A	probably benign	Het
Ces2b	C	A	8: 105,558,221 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cnot3	A	G	7: 3,661,192 (GRCm39)	D567G	probably benign	Het
Cnot6l	T	C	5: 96,230,875 (GRCm39)	D364G	probably damaging	Het
Cpped1	A	G	16: 11,646,419 (GRCm39)	V111A		Het
Cstdc4	T	A	16: 36,008,285 (GRCm39)	M57K	possibly damaging	Het
Cyp11b2	T	C	15: 74,722,995 (GRCm39)	K468E	probably damaging	Het
Dpp4	T	G	2: 62,204,733 (GRCm39)	T245P	possibly damaging	Het
Efcab15	T	C	11: 103,090,893 (GRCm39)	T151A	probably benign	Het
Fat2	A	G	11: 55,153,347 (GRCm39)	W3622R	probably damaging	Het
Fat4	A	C	3: 39,064,803 (GRCm39)	K4920Q		Het
Frmpd2	A	G	14: 33,252,407 (GRCm39)	I656M	probably benign	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gde1	C	T	7: 118,294,305 (GRCm39)	R166H	probably benign	Het
Gdf7	A	T	12: 8,348,652 (GRCm39)	F215Y	unknown	Het
Gdpgp1	A	G	7: 79,888,282 (GRCm39)	I104M	probably benign	Het
Gldc	A	G	19: 30,077,314 (GRCm39)	S953P	possibly damaging	Het
Golga3	C	T	5: 110,337,544 (GRCm39)	H411Y	probably benign	Het
Gpn1	G	T	5: 31,655,740 (GRCm39)	R101I	probably damaging	Het
Itgb5	T	A	16: 33,740,551 (GRCm39)	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,584,364 (GRCm39)	L289F	probably damaging	Het
Klhl13	C	T	X: 23,113,733 (GRCm39)	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,747,832 (GRCm39)	T3164R	unknown	Het
Knl1	T	C	2: 118,899,469 (GRCm39)	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 141,728,836 (GRCm39)		probably benign	Het
Lamtor4	G	A	5: 138,254,595 (GRCm39)		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,715,919 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,622,102 (GRCm39)	L829F	probably benign	Het
Ltbp1	T	A	17: 75,622,103 (GRCm39)	L829H	probably damaging	Het
Mrgpra1	C	T	7: 46,984,732 (GRCm39)	E316K	probably damaging	Het
Muc16	T	A	9: 18,556,966 (GRCm39)	H3109L	unknown	Het
Nck1	T	C	9: 100,377,561 (GRCm39)	E368G	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nus1	A	T	10: 52,305,287 (GRCm39)		probably null	Het
Nxph2	T	C	2: 23,289,780 (GRCm39)	V44A	probably benign	Het
Or1e30	A	G	11: 73,678,687 (GRCm39)	K308E	probably benign	Het
Or4f56	A	G	2: 111,703,606 (GRCm39)	M198T	possibly damaging	Het
Or4k35	A	G	2: 111,100,094 (GRCm39)	L206P	probably benign	Het
Or4z4	G	T	19: 12,076,254 (GRCm39)	H250N	probably benign	Het
Or5d35	T	C	2: 87,855,330 (GRCm39)	I88T	probably benign	Het
Or5m11b	A	G	2: 85,806,096 (GRCm39)	K170E	probably benign	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Otof	T	C	5: 30,539,696 (GRCm39)	D1039G	possibly damaging	Het
Parpbp	T	A	10: 87,968,969 (GRCm39)	Q159L	possibly damaging	Het
Per2	A	T	1: 91,351,464 (GRCm39)	L1014Q	possibly damaging	Het
Pik3ca	A	G	3: 32,514,168 (GRCm39)	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,145,056 (GRCm39)	V299A	probably benign	Het
Polr3h	A	T	15: 81,806,717 (GRCm39)		probably benign	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel23	T	G	4: 143,425,727 (GRCm39)	N72T	probably benign	Het
Pus3	C	A	9: 35,476,946 (GRCm39)	Q248K	probably benign	Het
Sectm1a	T	A	11: 120,960,569 (GRCm39)	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,282,208 (GRCm39)	Y448C	probably damaging	Het
Slc12a4	A	T	8: 106,675,774 (GRCm39)	S584T	probably benign	Het
Slc25a40	T	C	5: 8,499,613 (GRCm39)	F249L	probably benign	Het
St3gal6	T	A	16: 58,306,793 (GRCm39)	N79I		Het
Stxbp4	A	T	11: 90,426,320 (GRCm39)	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,878,118 (GRCm39)	Y202C	probably damaging	Het
Swt1	A	G	1: 151,299,256 (GRCm39)		probably null	Het
Tdrd6	T	C	17: 43,936,305 (GRCm39)	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,495,061 (GRCm39)	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,758,518 (GRCm39)	E437G	probably benign	Het
Txnrd2	A	T	16: 18,256,315 (GRCm39)	H101L	probably damaging	Het
Uba3	A	T	6: 97,163,671 (GRCm39)	V306E	probably damaging	Het
Unc5b	T	C	10: 60,604,152 (GRCm39)	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,347,304 (GRCm39)	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,314,064 (GRCm39)	R222S	probably damaging	Het
Zfp507	G	A	7: 35,494,446 (GRCm39)	T199I	probably benign	Het
Zfyve19	T	G	2: 119,041,718 (GRCm39)	L95R	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
R0736:Pik3ap1	UTSW	19	41,320,758 (GRCm39)	missense	possibly damaging	0.56
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
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'- TTCCTGTCAGTATTTTGGAAATGGC -3'
(R):5'- CTGTTGCATTTTGCTGCCAAG -3'

Sequencing Primer
(F):5'- TTCTCTTGCAGAGGACCAAG -3'
(R):5'- GTATGGACTGAAGAACCTCACTGC -3'

Posted On

2022-08-03