Incidental Mutation 'R1157:Pip5k1a'
| ID |
101777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip5k1a
|
| Ensembl Gene |
ENSMUSG00000028126 |
| Gene Name |
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha |
| Synonyms |
Pipk5a |
| MMRRC Submission |
039230-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1157 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94965841-95014241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94985423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 60
(T60I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005768]
[ENSMUST00000107232]
[ENSMUST00000107233]
[ENSMUST00000107236]
|
| AlphaFold |
P70182 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005768
AA Change: T60I
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: T60I
| 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: T60I
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: T60I
| 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: T62I
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: T62I
| 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: T61I
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: T61I
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
A |
3: 95,590,971 (GRCm39) |
S332I |
possibly damaging |
Het |
| Alpl |
A |
G |
4: 137,481,331 (GRCm39) |
V107A |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,976,349 (GRCm39) |
F442L |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,832,037 (GRCm39) |
M733K |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,390,650 (GRCm39) |
C1061S |
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,815,587 (GRCm39) |
V90M |
possibly damaging |
Het |
| Ergic1 |
T |
A |
17: 26,833,369 (GRCm39) |
L41Q |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,314,154 (GRCm39) |
P386L |
probably benign |
Het |
| Gm21726 |
T |
C |
13: 90,731,724 (GRCm39) |
|
noncoding transcript |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,646,366 (GRCm39) |
V771A |
possibly damaging |
Het |
| Klhl29 |
T |
C |
12: 5,140,650 (GRCm39) |
N664S |
possibly damaging |
Het |
| Krit1 |
T |
C |
5: 3,882,176 (GRCm39) |
Y659H |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,664,490 (GRCm39) |
D373E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,865,892 (GRCm39) |
I1283T |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,912,031 (GRCm39) |
Y1843C |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,937 (GRCm39) |
D120E |
probably benign |
Het |
| Mgp |
A |
T |
6: 136,850,204 (GRCm39) |
M44K |
possibly damaging |
Het |
| Mrps25 |
A |
T |
6: 92,160,947 (GRCm39) |
M3K |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,434,456 (GRCm39) |
|
probably null |
Het |
| Nedd9 |
C |
T |
13: 41,467,979 (GRCm39) |
|
probably null |
Het |
| Or52e4 |
A |
G |
7: 104,706,091 (GRCm39) |
I213V |
probably benign |
Het |
| Or6c8b |
T |
G |
10: 128,882,027 (GRCm39) |
T302P |
probably benign |
Het |
| Or7c19 |
G |
T |
8: 85,957,889 (GRCm39) |
C255F |
probably damaging |
Het |
| Pate12 |
G |
A |
9: 36,344,143 (GRCm39) |
C42Y |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,219,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Rp9 |
A |
T |
9: 22,370,036 (GRCm39) |
Y44N |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,959,670 (GRCm39) |
|
probably null |
Het |
| Trim33 |
C |
T |
3: 103,261,146 (GRCm39) |
T1098I |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,314 (GRCm39) |
I263F |
possibly damaging |
Het |
| Wdr12 |
A |
T |
1: 60,117,389 (GRCm39) |
S402R |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,186,282 (GRCm39) |
S771G |
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 |
|
|
R0891:Pip5k1a
|
UTSW |
3 |
94,972,831 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation