Incidental Mutation 'IGL01647:Pip5k1a'
| ID |
102721 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pip5k1a
|
| Ensembl Gene |
ENSMUSG00000028126 |
| Gene Name |
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha |
| Synonyms |
Pipk5a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94965841-95014241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94981383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 82
(V82M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005768]
[ENSMUST00000107232]
[ENSMUST00000107233]
[ENSMUST00000107236]
|
| AlphaFold |
P70182 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005768
AA Change: V81M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: V81M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
PIPKc
|
93 |
434 |
2.79e-184 |
SMART |
|
low complexity region
|
447 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107231
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107232
AA Change: V81M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: V81M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
PIPKc
|
93 |
434 |
2.79e-184 |
SMART |
|
low complexity region
|
460 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107233
AA Change: V83M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: V83M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
PIPKc
|
95 |
436 |
2.79e-184 |
SMART |
|
low complexity region
|
449 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107236
AA Change: V82M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: V82M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
PIPKc
|
94 |
435 |
2.79e-184 |
SMART |
|
low complexity region
|
448 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151335
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit partial lethality and reduced male fertility associated with asthenozoospermia and abnormal midpiece morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,672,695 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
A |
G |
5: 21,851,091 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,688,087 (GRCm39) |
M14K |
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
| Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
| Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,517,146 (GRCm39) |
G358R |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
| Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,688,477 (GRCm39) |
I107F |
possibly damaging |
Het |
| Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
| Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
| Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,730,081 (GRCm39) |
E189G |
probably benign |
Het |
| Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
| Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
| Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
| St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
| Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
| Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
| Zfp426 |
T |
A |
9: 20,389,453 (GRCm39) |
M1L |
possibly damaging |
Het |
|
| Other mutations in Pip5k1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01455:Pip5k1a
|
APN |
3 |
94,975,471 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02536:Pip5k1a
|
APN |
3 |
94,971,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02612:Pip5k1a
|
APN |
3 |
94,974,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
Biden
|
UTSW |
3 |
94,975,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Time
|
UTSW |
3 |
94,967,809 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0109:Pip5k1a
|
UTSW |
3 |
94,972,753 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0217:Pip5k1a
|
UTSW |
3 |
94,981,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0891:Pip5k1a
|
UTSW |
3 |
94,972,831 (GRCm39) |
splice site |
probably benign |
|
|
R1157:Pip5k1a
|
UTSW |
3 |
94,985,423 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1692:Pip5k1a
|
UTSW |
3 |
94,971,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2176:Pip5k1a
|
UTSW |
3 |
94,972,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Pip5k1a
|
UTSW |
3 |
94,979,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3693:Pip5k1a
|
UTSW |
3 |
94,985,498 (GRCm39) |
splice site |
probably benign |
|
|
R3933:Pip5k1a
|
UTSW |
3 |
94,979,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4405:Pip5k1a
|
UTSW |
3 |
94,975,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4903:Pip5k1a
|
UTSW |
3 |
94,978,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4964:Pip5k1a
|
UTSW |
3 |
94,978,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5652:Pip5k1a
|
UTSW |
3 |
94,974,750 (GRCm39) |
missense |
probably benign |
|
|
R6314:Pip5k1a
|
UTSW |
3 |
94,975,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Pip5k1a
|
UTSW |
3 |
94,975,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Pip5k1a
|
UTSW |
3 |
94,967,809 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7432:Pip5k1a
|
UTSW |
3 |
94,981,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8748:Pip5k1a
|
UTSW |
3 |
94,971,695 (GRCm39) |
missense |
probably benign |
|
|
X0017:Pip5k1a
|
UTSW |
3 |
94,985,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation