Incidental Mutation 'R3933:Pip5k1a'
| ID |
308543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip5k1a
|
| Ensembl Gene |
ENSMUSG00000028126 |
| Gene Name |
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha |
| Synonyms |
Pipk5a |
| MMRRC Submission |
040920-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94965841-95014241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94979314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 161
(S161P)
|
| 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
AA Change: S160P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: S160P
| 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 benign
Transcript: ENSMUST00000107232
AA Change: S160P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: S160P
| 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
AA Change: S162P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: S162P
| 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
AA Change: S161P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: S161P
| 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 |
0.0929 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
96% (43/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,304,856 (GRCm39) |
F3350L |
probably damaging |
Het |
| Acp6 |
T |
C |
3: 97,073,499 (GRCm39) |
V146A |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,749 (GRCm39) |
I630V |
probably benign |
Het |
| Astn2 |
G |
A |
4: 66,322,192 (GRCm39) |
R136C |
unknown |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| C1rl |
T |
A |
6: 124,485,781 (GRCm39) |
L384* |
probably null |
Het |
| Ccdc6 |
TCCGCCGCCGCC |
TCCGCCGCC |
10: 70,025,000 (GRCm39) |
|
probably benign |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,207,016 (GRCm39) |
M643K |
probably benign |
Het |
| Fut8 |
A |
C |
12: 77,522,033 (GRCm39) |
K557N |
probably damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,597,274 (GRCm39) |
Y88H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,622,498 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,566 (GRCm39) |
|
probably null |
Het |
| Mei1 |
A |
G |
15: 81,967,353 (GRCm39) |
K310E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,292,601 (GRCm39) |
V438A |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,300 (GRCm39) |
Y232H |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,106 (GRCm39) |
I212F |
probably benign |
Het |
| Parp2 |
G |
A |
14: 51,056,844 (GRCm39) |
V323M |
probably benign |
Het |
| Pold3 |
T |
C |
7: 99,770,608 (GRCm39) |
E8G |
probably damaging |
Het |
| Pomt1 |
G |
A |
2: 32,135,631 (GRCm39) |
V332I |
probably benign |
Het |
| Ppp2ca |
T |
A |
11: 52,010,089 (GRCm39) |
N232K |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,101,318 (GRCm39) |
D2274V |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,835,950 (GRCm39) |
V464I |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Scai |
A |
T |
2: 38,965,064 (GRCm39) |
D593E |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 87,094,422 (GRCm39) |
T366A |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,608,830 (GRCm39) |
I320V |
probably benign |
Het |
| Syngr2 |
C |
A |
11: 117,704,243 (GRCm39) |
P206Q |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,778,521 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,201,260 (GRCm39) |
A415T |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,435 (GRCm39) |
M258V |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,576,872 (GRCm39) |
R561C |
probably damaging |
Het |
| Yju2b |
G |
A |
8: 84,986,981 (GRCm39) |
A172V |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
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 |
|
|
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 |
|
|
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'- CACTATCACTGGCTCTGCTG -3'
(R):5'- CTGTAAAATGGATGTGATTCTCCCTAC -3'
Sequencing Primer
(F):5'- TATCACTGGCTCTGCTGAGGAC -3'
(R):5'- ACTCACTCTGTAGACCAGGCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation