Mutagenetix > Incidental Mutation

Incidental Mutation 'R7313:Pik3ap1'

567808

Institutional Source

Beutler Lab

Gene Symbol

Pik3ap1

Ensembl Gene

ENSMUSG00000025017

Gene Name

phosphoinositide-3-kinase adaptor protein 1

Synonyms

BCAP, 1810044J04Rik

MMRRC Submission

045411-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7313 (G1)

Quality Score

94.0077

Status

Not validated

Chromosome

Chromosomal Location

41260980-41373541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41284815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 623 (D623E)

Ref Sequence

ENSEMBL: ENSMUSP00000052777 (fasta)

Gene Model

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

AlphaFold

Q9EQ32

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059672
AA Change: D623E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: D623E

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,773,187 (GRCm39)	N805S	probably damaging	Het
Acat2	A	G	17: 13,178,893 (GRCm39)	V60A	probably benign	Het
Adam6b	A	G	12: 113,454,754 (GRCm39)	I524V	probably benign	Het
Adamts16	C	T	13: 70,921,074 (GRCm39)	W590*	probably null	Het
Adamts9	C	T	6: 92,835,102 (GRCm39)	G1257D	probably damaging	Het
Adgrf5	C	T	17: 43,755,974 (GRCm39)	T644I	probably benign	Het
Adgrf5	T	G	17: 43,763,368 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,668,634 (GRCm39)	T2641A	possibly damaging	Het
Agap3	T	C	5: 24,657,382 (GRCm39)	F60L	probably benign	Het
Akap9	C	A	5: 4,054,933 (GRCm39)	T1626K	probably damaging	Het
Ampd3	C	A	7: 110,405,261 (GRCm39)	D603E	probably damaging	Het
Angpt4	T	A	2: 151,767,326 (GRCm39)	V119E	probably benign	Het
Atp6v1a	T	C	16: 43,934,980 (GRCm39)	T70A	probably benign	Het
B4galt3	T	A	1: 171,100,319 (GRCm39)	I163N	probably damaging	Het
Borcs5	C	T	6: 134,687,143 (GRCm39)	T167M	probably damaging	Het
Btbd19	T	A	4: 116,978,616 (GRCm39)	S156C	probably damaging	Het
Camkk2	C	T	5: 122,875,574 (GRCm39)	R492Q	possibly damaging	Het
Casr	T	C	16: 36,330,033 (GRCm39)	I434V	probably damaging	Het
Cd4	G	T	6: 124,844,066 (GRCm39)	T394K	probably benign	Het
Cps1	T	C	1: 67,237,517 (GRCm39)	L1006P	probably damaging	Het
Crx	G	A	7: 15,601,857 (GRCm39)	P274S	probably damaging	Het
Crybg1	T	A	10: 43,865,107 (GRCm39)	I1457F	probably damaging	Het
Cul4a	C	A	8: 13,171,676 (GRCm39)		probably benign	Het
D430041D05Rik	T	A	2: 104,085,910 (GRCm39)	T196S	probably benign	Het
Dnah3	T	C	7: 119,580,567 (GRCm39)	E1995G	probably benign	Het
Dnm1	T	A	2: 32,226,021 (GRCm39)	T353S	probably damaging	Het
Ect2l	T	A	10: 18,044,149 (GRCm39)	T329S	probably damaging	Het
Elp2	T	A	18: 24,742,716 (GRCm39)	S83T	probably benign	Het
Exosc7	A	G	9: 122,948,013 (GRCm39)	T39A	probably benign	Het
Fam135a	C	A	1: 24,096,473 (GRCm39)	V91F	probably damaging	Het
Gab2	G	T	7: 96,731,005 (GRCm39)		probably benign	Het
Gbf1	A	T	19: 46,268,793 (GRCm39)	I1408F	possibly damaging	Het
Glis3	C	T	19: 28,508,419 (GRCm39)	E522K	probably damaging	Het
Gm10375	A	T	14: 43,842,314 (GRCm39)	C139S	possibly damaging	Het
Gm26558	T	C	2: 70,492,211 (GRCm39)	E81G	unknown	Het
Gm35315	C	T	5: 110,227,091 (GRCm39)	C116Y	probably benign	Het
Gm3676	T	A	14: 41,366,064 (GRCm39)	I84F	probably damaging	Het
Gm7145	T	A	1: 117,913,932 (GRCm39)	H271Q	probably damaging	Het
Gpat2	T	A	2: 127,270,215 (GRCm39)	I76N	probably damaging	Het
Hipk1	A	T	3: 103,685,574 (GRCm39)	S14T	unknown	Het
Hlcs	C	A	16: 94,068,362 (GRCm39)	S286I	probably damaging	Het
Ighg1	A	T	12: 113,293,078 (GRCm39)	F204Y		Het
Igsf10	T	C	3: 59,236,837 (GRCm39)	I1115V	probably benign	Het
Klk7	A	T	7: 43,462,299 (GRCm39)	H97L	probably damaging	Het
Kmt2d	A	T	15: 98,754,504 (GRCm39)	D1605E	unknown	Het
Leng8	T	A	7: 4,142,525 (GRCm39)	I49N	possibly damaging	Het
Lingo4	A	T	3: 94,310,451 (GRCm39)	D463V	possibly damaging	Het
Lrp1	T	A	10: 127,389,337 (GRCm39)	N3193I	probably damaging	Het
Lrrc7	T	A	3: 157,866,111 (GRCm39)	Y1210F	probably damaging	Het
Mki67	G	C	7: 135,296,400 (GRCm39)	A2878G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtcl3	T	A	10: 29,072,875 (GRCm39)	Y722*	probably null	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Myh6	A	T	14: 55,197,727 (GRCm39)	D470E	probably benign	Het
Myo1e	T	C	9: 70,266,667 (GRCm39)		probably null	Het
Myo7a	G	A	7: 97,713,402 (GRCm39)	R1647W	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nmral1	C	T	16: 4,531,660 (GRCm39)	M198I	probably benign	Het
Nrap	C	A	19: 56,330,700 (GRCm39)	L1120F	probably damaging	Het
Nup155	T	A	15: 8,184,406 (GRCm39)	I1267N	probably damaging	Het
Obscn	G	A	11: 58,898,414 (GRCm39)	P6616S	unknown	Het
Ocstamp	T	G	2: 165,239,229 (GRCm39)	D319A	probably damaging	Het
Ooep	T	C	9: 78,285,433 (GRCm39)	D61G	probably damaging	Het
Or10p1	A	G	10: 129,443,949 (GRCm39)	S134P	probably benign	Het
Or1e25	A	T	11: 73,493,810 (GRCm39)	I135F	probably damaging	Het
Or52ad1	A	G	7: 102,995,538 (GRCm39)	V199A	probably benign	Het
Or6c5c	T	C	10: 129,298,856 (GRCm39)	S104P	probably damaging	Het
Or7g35	A	G	9: 19,495,938 (GRCm39)	Y35C	probably damaging	Het
Otoa	A	G	7: 120,701,765 (GRCm39)	E148G	probably benign	Het
Ovgp1	A	T	3: 105,894,387 (GRCm39)	D720V	unknown	Het
Padi2	T	A	4: 140,660,079 (GRCm39)	F294I	probably damaging	Het
Pcdha7	T	A	18: 37,107,471 (GRCm39)	N165K	probably damaging	Het
Pcdhb6	C	A	18: 37,468,261 (GRCm39)	P394H	probably damaging	Het
Pcdhga6	T	C	18: 37,841,072 (GRCm39)	V264A	possibly damaging	Het
Prdm10	A	T	9: 31,268,456 (GRCm39)	K802*	probably null	Het
Ptgfrn	G	A	3: 100,980,363 (GRCm39)	L326F	possibly damaging	Het
Rgsl1	T	G	1: 153,683,622 (GRCm39)		probably null	Het
Rock1	T	G	18: 10,129,317 (GRCm39)	T347P	possibly damaging	Het
Rprd2	G	A	3: 95,684,022 (GRCm39)	P338S	probably damaging	Het
Sdk1	A	T	5: 141,923,377 (GRCm39)	N333Y	probably damaging	Het
Setd4	T	A	16: 93,388,132 (GRCm39)	H118L	probably benign	Het
Sirt3	G	A	7: 140,458,039 (GRCm39)	P37S		Het
Slc16a9	G	T	10: 70,119,000 (GRCm39)	G440W	probably damaging	Het
Slc22a23	T	A	13: 34,367,161 (GRCm39)	I616F	probably damaging	Het
Slc30a8	A	C	15: 52,180,707 (GRCm39)	D102A	probably damaging	Het
Slc6a4	T	A	11: 76,901,527 (GRCm39)	D87E	possibly damaging	Het
Slc9a4	A	C	1: 40,668,663 (GRCm39)	T769P	probably benign	Het
Sspo	A	T	6: 48,431,762 (GRCm39)	Y685F	probably damaging	Het
Sspo	C	A	6: 48,450,390 (GRCm39)	Q2560K	probably benign	Het
Stpg1	T	A	4: 135,256,827 (GRCm39)	L206Q	probably damaging	Het
Stt3b	A	T	9: 115,095,183 (GRCm39)	Y283N	probably damaging	Het
Sult4a1	T	C	15: 83,970,814 (GRCm39)	E197G	probably damaging	Het
Syne1	T	G	10: 4,997,635 (GRCm39)	D444A	probably damaging	Het
Tex15	T	A	8: 34,064,845 (GRCm39)	V1425E	possibly damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmcc3	A	G	10: 94,266,434 (GRCm39)		probably benign	Het
Tnfrsf8	T	A	4: 145,000,952 (GRCm39)	N385Y	probably benign	Het
Ttc4	T	C	4: 106,536,017 (GRCm39)	D15G	possibly damaging	Het
Tut1	A	G	19: 8,941,413 (GRCm39)	N400S	probably benign	Het
Usp39	T	C	6: 72,313,413 (GRCm39)	K259R	probably benign	Het
Vmn1r215	C	T	13: 23,260,484 (GRCm39)	H175Y	probably benign	Het
Vmn1r36	A	T	6: 66,693,107 (GRCm39)	M256K	probably benign	Het
Zfp128	T	A	7: 12,624,461 (GRCm39)	H276Q	possibly damaging	Het
Zfp276	T	C	8: 123,994,562 (GRCm39)	M543T	probably damaging	Het
Zfp354c	A	T	11: 50,705,483 (GRCm39)	Y531N	probably damaging	Het
Zfp532	T	A	18: 65,756,076 (GRCm39)	M3K	probably damaging	Het
Zfp64	T	G	2: 168,741,810 (GRCm39)	K373Q	probably damaging	Het
Zfp764l1	C	T	7: 126,990,856 (GRCm39)	S377N	probably benign	Het
Zfp983	T	G	17: 21,880,413 (GRCm39)	S114A	probably damaging	Het
Zranb1	G	A	7: 132,584,481 (GRCm39)	R583K	probably damaging	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
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'- TACACAATGCTCGCAGGTTCC -3'
(R):5'- TGCGTCAATGTTTCTCCTGG -3'

Sequencing Primer
(F):5'- GCAGGTTCCCCCATCCAG -3'
(R):5'- CTGTTCCCGGGAGTCAGTG -3'

Posted On

2019-06-26