Incidental Mutation 'R3693:Pip5k1a'
| ID |
268850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip5k1a
|
| Ensembl Gene |
ENSMUSG00000028126 |
| Gene Name |
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha |
| Synonyms |
Pipk5a |
| MMRRC Submission |
040688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3693 (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 T
at 94985498 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 |
noncoding transcript
Transcript: ENSMUST00000107231
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151335
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,655,443 (GRCm39) |
D122G |
probably damaging |
Het |
| Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp11b2 |
C |
T |
15: 74,727,857 (GRCm39) |
R75Q |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,273,249 (GRCm39) |
K223E |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,152,904 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,769,209 (GRCm39) |
I40T |
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
| Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
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 |
|
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'- CATCCATATAATCTCAGCACTTGGA -3'
(R):5'- TGCCCGGGGATAGGAGTT -3'
Sequencing Primer
(F):5'- TAATCTCAGCACTTGGAAGGCTG -3'
(R):5'- CAAGTGTTCTTAACTACTGAGCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation