Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:Pik3ap1'

216634

Institutional Source

Beutler Lab

Gene Symbol

Pik3ap1

Ensembl Gene

ENSMUSG00000025017

Gene Name

phosphoinositide-3-kinase adaptor protein 1

Synonyms

BCAP, 1810044J04Rik

MMRRC Submission

039963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41260980-41373541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41262776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 799 (S799T)

Ref Sequence

ENSEMBL: ENSMUSP00000052777 (fasta)

Gene Model

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

AlphaFold

Q9EQ32

Predicted Effect

probably benign
Transcript: ENSMUST00000059672
AA Change: S799T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: S799T

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,653,549 (GRCm39)	I33V	unknown	Het
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509 (GRCm39)		probably null	Het
Amotl2	T	C	9: 102,597,753 (GRCm39)	S171P	probably benign	Het
Armh4	T	A	14: 50,005,940 (GRCm39)	E585V	probably damaging	Het
Atf6	A	T	1: 170,682,710 (GRCm39)	V34E	probably benign	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bglap	A	G	3: 88,290,971 (GRCm39)	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,184,094 (GRCm39)	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Cdc14b	T	C	13: 64,367,704 (GRCm39)	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,265,567 (GRCm39)	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,621,100 (GRCm39)	G26*	probably null	Het
Cfap46	A	G	7: 139,259,819 (GRCm39)	F217S	probably damaging	Het
Col11a2	A	T	17: 34,278,142 (GRCm39)	D691V	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 26,933,405 (GRCm39)		probably benign	Het
Coq8b	GCA	GCAACA	7: 26,933,406 (GRCm39)		probably benign	Het
Dcaf5	T	C	12: 80,385,468 (GRCm39)	D886G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
Etaa1	A	G	11: 17,897,233 (GRCm39)	C295R	probably damaging	Het
Ghdc	C	T	11: 100,660,031 (GRCm39)	A239T	probably benign	Het
Grik4	T	C	9: 42,432,300 (GRCm39)	D899G	possibly damaging	Het
Hacd2	C	A	16: 34,922,354 (GRCm39)	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,345,877 (GRCm39)	L17P	unknown	Het
Herc3	T	C	6: 58,864,424 (GRCm39)	V686A	probably damaging	Het
Hyal3	T	C	9: 107,462,671 (GRCm39)	L235P	probably damaging	Het
Itgb4	C	T	11: 115,884,279 (GRCm39)	Q988*	probably null	Het
Itprid2	T	C	2: 79,492,996 (GRCm39)	V1181A	probably benign	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Lama1	T	A	17: 68,052,848 (GRCm39)	S394T	probably benign	Het
Lamp1	T	C	8: 13,222,545 (GRCm39)	V243A	probably benign	Het
Loxhd1	A	G	18: 77,492,504 (GRCm39)	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,384,453 (GRCm39)	L1148*	probably null	Het
Mill2	A	G	7: 18,575,419 (GRCm39)	H42R	probably benign	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,769,224 (GRCm39)	I1472F	probably damaging	Het
Nasp	T	C	4: 116,479,965 (GRCm39)	S36G	possibly damaging	Het
Nav2	A	G	7: 49,114,620 (GRCm39)	Y868C	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,175,199 (GRCm39)	W592*	probably null	Het
Nsg2	T	C	11: 32,005,068 (GRCm39)	V90A	probably damaging	Het
Odf4	T	C	11: 68,812,983 (GRCm39)	N225S	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or1j12	T	C	2: 36,343,043 (GRCm39)	W149R	probably damaging	Het
Or4c123	T	C	2: 89,127,128 (GRCm39)	Y162C	probably damaging	Het
Pcdhb4	A	T	18: 37,441,921 (GRCm39)	R410S	probably damaging	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pitx2	A	G	3: 129,012,185 (GRCm39)	N198S	probably damaging	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Recql5	G	A	11: 115,819,123 (GRCm39)	R148*	probably null	Het
Reep3	A	G	10: 66,871,678 (GRCm39)	S97P	probably damaging	Het
Rnase12	T	A	14: 51,294,463 (GRCm39)	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Scn10a	A	T	9: 119,520,520 (GRCm39)	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,506,324 (GRCm39)	W1522R	probably damaging	Het
Senp7	A	G	16: 55,944,309 (GRCm39)	H211R	probably damaging	Het
Septin10	C	T	10: 59,016,841 (GRCm39)		probably null	Het
Serpinb6d	T	C	13: 33,851,663 (GRCm39)	V140A	possibly damaging	Het
Sned1	A	G	1: 93,198,960 (GRCm39)	E457G	probably benign	Het
Spag17	A	C	3: 99,847,298 (GRCm39)	M76L	probably benign	Het
Spata31e2	C	A	1: 26,721,395 (GRCm39)	V1262F	probably benign	Het
Spata31e3	C	T	13: 50,399,527 (GRCm39)	G933E	probably damaging	Het
Sspo	A	T	6: 48,466,707 (GRCm39)	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,412,866 (GRCm39)	D173E	possibly damaging	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Svil	T	C	18: 5,117,059 (GRCm39)	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,186,454 (GRCm39)	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474 (GRCm39)	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960 (GRCm39)	N139S	possibly damaging	Het
Trip13	T	C	13: 74,076,043 (GRCm39)	R199G	probably damaging	Het
Tshb	G	T	3: 102,684,831 (GRCm39)	Y124*	probably null	Het
Ttn	T	C	2: 76,560,366 (GRCm39)	E29345G	probably damaging	Het
Usp33	T	A	3: 152,085,223 (GRCm39)	S620T	probably benign	Het
Vipr1	G	A	9: 121,497,540 (GRCm39)	G353R	probably damaging	Het
Vipr1	G	T	9: 121,497,541 (GRCm39)	G353V	probably damaging	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,062,192 (GRCm39)	S240T	probably damaging	Het
Zfp772	A	G	7: 7,206,629 (GRCm39)	I354T	probably benign	Het
Zfp959	T	A	17: 56,204,231 (GRCm39)	Y86*	probably null	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
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'- ACCATCACCAGTGACAGTGG -3'
(R):5'- GGGAATTGGCATTTGTCACTAC -3'

Sequencing Primer
(F):5'- GGCTCTCAAGGTCCATAGTCATG -3'
(R):5'- GATCAGAAGCCATGGCATCTATGTC -3'

Posted On

2014-08-01