Incidental Mutation 'R0891:Pip5k1a'
| ID |
83494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip5k1a
|
| Ensembl Gene |
ENSMUSG00000028126 |
| Gene Name |
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha |
| Synonyms |
Pipk5a |
| MMRRC Submission |
039054-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94965841-95014241 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 94972831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005768]
[ENSMUST00000107232]
[ENSMUST00000107233]
[ENSMUST00000107236]
|
| AlphaFold |
P70182 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005768
|
| SMART Domains |
Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
| 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 |
probably benign
Transcript: ENSMUST00000107232
|
| SMART Domains |
Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
| 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 benign
Transcript: ENSMUST00000107233
|
| SMART Domains |
Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
| 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 benign
Transcript: ENSMUST00000107236
|
| SMART Domains |
Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 92.2%
|
| Validation Efficiency |
100% (41/41) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,156 (GRCm39) |
N567K |
possibly damaging |
Het |
| Afap1 |
G |
A |
5: 36,119,196 (GRCm39) |
|
probably null |
Het |
| Angel2 |
G |
T |
1: 190,677,270 (GRCm39) |
K517N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,637,316 (GRCm39) |
E1295G |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,982,906 (GRCm39) |
N139S |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,321 (GRCm39) |
T498A |
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,026,699 (GRCm39) |
T720A |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,695,053 (GRCm39) |
T1547I |
probably damaging |
Het |
| Brsk1 |
A |
G |
7: 4,707,226 (GRCm39) |
S260G |
possibly damaging |
Het |
| Calml3 |
A |
G |
13: 3,853,926 (GRCm39) |
F93S |
probably damaging |
Het |
| Ccnf |
G |
T |
17: 24,445,751 (GRCm39) |
H498Q |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,223,420 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
A |
G |
17: 29,421,893 (GRCm39) |
|
probably benign |
Het |
| Dcst1 |
G |
A |
3: 89,260,584 (GRCm39) |
T560I |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,777,904 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,212,242 (GRCm39) |
D680V |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,750,572 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 90,996,337 (GRCm39) |
I50N |
probably damaging |
Het |
| Mbip |
A |
T |
12: 56,387,242 (GRCm39) |
D132E |
possibly damaging |
Het |
| Nipal3 |
A |
T |
4: 135,195,898 (GRCm39) |
I235N |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,007,891 (GRCm39) |
|
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,372 (GRCm39) |
Y104H |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,471 (GRCm39) |
Y134F |
probably damaging |
Het |
| Pgbd1 |
T |
C |
13: 21,606,970 (GRCm39) |
Y408C |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,020,519 (GRCm39) |
Q808* |
probably null |
Het |
| Pik3r1 |
A |
T |
13: 101,837,974 (GRCm39) |
N299K |
probably benign |
Het |
| Semp2l1 |
T |
A |
1: 32,585,442 (GRCm39) |
H156L |
possibly damaging |
Het |
| Septin5 |
G |
C |
16: 18,443,595 (GRCm39) |
T118R |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,638,015 (GRCm39) |
V483A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,421 (GRCm39) |
D948G |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,476 (GRCm39) |
V442E |
possibly damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,068 (GRCm39) |
K46E |
probably 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 |
|
IGL01647:Pip5k1a
|
APN |
3 |
94,981,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCGTCACACATAGTCTACATCC -3'
(R):5'- AGTTGGAGCACTCTTGGAAAGCAC -3'
Sequencing Primer
(F):5'- CGCTCACAGGATGTAGGCAG -3'
(R):5'- TCCCCTCAGCAGtttcttcc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation