Incidental Mutation 'R7175:Pik3ap1'
| ID |
558585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3ap1
|
| Ensembl Gene |
ENSMUSG00000025017 |
| Gene Name |
phosphoinositide-3-kinase adaptor protein 1 |
| Synonyms |
BCAP, 1810044J04Rik |
| MMRRC Submission |
045231-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41275929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 717
(D717G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
| AlphaFold |
Q9EQ32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059672
AA Change: D717G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: D717G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,831,611 (GRCm39) |
T1247I |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,108,869 (GRCm39) |
L1479P |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,210,534 (GRCm39) |
R363G |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,740,590 (GRCm39) |
S1765T |
unknown |
Het |
| Anks6 |
T |
C |
4: 47,046,268 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
C |
12: 8,057,034 (GRCm39) |
I1839L |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
| Ccs |
T |
A |
19: 4,883,390 (GRCm39) |
D136V |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,220,578 (GRCm39) |
|
probably null |
Het |
| Cirbp |
T |
C |
10: 80,006,297 (GRCm39) |
S130P |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,317,927 (GRCm39) |
I199T |
probably benign |
Het |
| Csn3 |
C |
T |
5: 88,077,586 (GRCm39) |
R31C |
probably damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,735,775 (GRCm39) |
I908F |
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,399,227 (GRCm39) |
T199I |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 66,024,463 (GRCm39) |
Q277L |
probably benign |
Het |
| Echdc2 |
C |
A |
4: 108,031,366 (GRCm39) |
P237T |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,838,237 (GRCm39) |
V3625A |
unknown |
Het |
| Eif4g3 |
A |
G |
4: 137,853,526 (GRCm39) |
N364S |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,734,231 (GRCm39) |
I1170L |
probably benign |
Het |
| Epha3 |
C |
T |
16: 63,403,863 (GRCm39) |
R746Q |
probably damaging |
Het |
| Exosc5 |
G |
A |
7: 25,363,794 (GRCm39) |
C102Y |
probably damaging |
Het |
| Fam91a1 |
A |
T |
15: 58,302,527 (GRCm39) |
Y289F |
probably benign |
Het |
| Fbxo38 |
A |
C |
18: 62,648,544 (GRCm39) |
F665V |
probably benign |
Het |
| Fcrl5 |
T |
C |
3: 87,353,645 (GRCm39) |
V330A |
probably benign |
Het |
| Fer |
T |
A |
17: 64,231,090 (GRCm39) |
D280E |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,113 (GRCm39) |
H16R |
probably benign |
Het |
| Gzmg |
C |
T |
14: 56,396,979 (GRCm39) |
M1I |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,411,692 (GRCm39) |
A456V |
possibly damaging |
Het |
| Hk2 |
T |
A |
6: 82,711,830 (GRCm39) |
Q613L |
probably benign |
Het |
| Inhca |
A |
G |
9: 103,128,988 (GRCm39) |
|
probably null |
Het |
| Itsn1 |
T |
C |
16: 91,664,938 (GRCm39) |
F1121L |
unknown |
Het |
| Lztr1 |
G |
T |
16: 17,340,895 (GRCm39) |
C557F |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,694,634 (GRCm39) |
Y1119C |
probably damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,319,751 (GRCm39) |
L248Q |
probably damaging |
Het |
| Or1a1 |
T |
A |
11: 74,087,004 (GRCm39) |
L225* |
probably null |
Het |
| Or1p1b |
T |
C |
11: 74,130,803 (GRCm39) |
F138L |
probably benign |
Het |
| Or2g7 |
T |
A |
17: 38,378,370 (GRCm39) |
S103T |
probably damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,054 (GRCm39) |
V42A |
probably benign |
Het |
| Otulinl |
A |
C |
15: 27,658,374 (GRCm39) |
D165E |
probably damaging |
Het |
| Pate1 |
T |
G |
9: 35,596,408 (GRCm39) |
D119A |
probably damaging |
Het |
| Pcdhgc4 |
T |
C |
18: 37,949,424 (GRCm39) |
V280A |
possibly damaging |
Het |
| Prdm13 |
A |
T |
4: 21,679,473 (GRCm39) |
L339Q |
unknown |
Het |
| Rasgrf1 |
T |
A |
9: 89,862,802 (GRCm39) |
N519K |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,473,533 (GRCm39) |
V39A |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,848,402 (GRCm39) |
M1K |
probably null |
Het |
| Slc20a1 |
T |
G |
2: 129,052,662 (GRCm39) |
L648R |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,122,583 (GRCm39) |
S3476C |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,399,134 (GRCm39) |
T2194A |
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,972,961 (GRCm39) |
D215G |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,429,071 (GRCm39) |
V717E |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,382,151 (GRCm39) |
M1K |
probably null |
Het |
| Trpa1 |
A |
G |
1: 14,963,431 (GRCm39) |
V597A |
possibly damaging |
Het |
| Usp13 |
C |
T |
3: 32,971,757 (GRCm39) |
Q746* |
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,655,906 (GRCm39) |
W255R |
probably benign |
Het |
| Vps35 |
A |
T |
8: 85,990,189 (GRCm39) |
|
probably null |
Het |
| Vps54 |
T |
C |
11: 21,265,028 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
T |
A |
17: 46,697,774 (GRCm39) |
L210Q |
probably damaging |
Het |
| Zfp319 |
C |
A |
8: 96,055,410 (GRCm39) |
K264N |
probably damaging |
Het |
| Zfp62 |
C |
T |
11: 49,107,580 (GRCm39) |
S557L |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,357,239 (GRCm39) |
S822P |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,346,645 (GRCm39) |
D2G |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,742,727 (GRCm39) |
I769T |
possibly 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 |
|
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'- ACCAAATCAGGTCCCAGTTAGG -3'
(R):5'- CAATGAGTATGGGAGACATTTGGC -3'
Sequencing Primer
(F):5'- CCAGTTAGGGTCTTGGGCTCC -3'
(R):5'- GCAATGACAGCCTGCCTGAATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation