Incidental Mutation 'R9700:Pip5k1b'
| ID |
729541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip5k1b
|
| Ensembl Gene |
ENSMUSG00000024867 |
| Gene Name |
phosphatidylinositol-4-phosphate 5-kinase, type 1 beta |
| Synonyms |
Pipk5b |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R9700 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
24272158-24533236 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24281460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 518
(Y518C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025800]
[ENSMUST00000112673]
|
| AlphaFold |
P70181 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025800
AA Change: Y518C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: Y518C
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
53 |
396 |
1.1e-159 |
SMART |
|
low complexity region
|
472 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112673
AA Change: Y466C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: Y466C
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
53 |
396 |
1.1e-159 |
SMART |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced passive cutaneous and systemic anaphylaxis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
C |
T |
15: 11,311,442 (GRCm39) |
S1233F |
probably benign |
Het |
| Aldh1a2 |
G |
T |
9: 71,123,228 (GRCm39) |
E34* |
probably null |
Het |
| Arhgap39 |
T |
C |
15: 76,611,617 (GRCm39) |
T856A |
probably damaging |
Het |
| Arpin |
A |
G |
7: 79,578,015 (GRCm39) |
V138A |
probably damaging |
Het |
| Art3 |
T |
G |
5: 92,562,120 (GRCm39) |
S373A |
unknown |
Het |
| AU018091 |
A |
T |
7: 3,208,165 (GRCm39) |
I514N |
probably benign |
Het |
| BC034090 |
C |
T |
1: 155,101,982 (GRCm39) |
R94H |
probably damaging |
Het |
| C2cd6 |
T |
G |
1: 59,117,089 (GRCm39) |
M135L |
probably benign |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,097 (GRCm39) |
M203V |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,268,359 (GRCm39) |
Y803H |
probably damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,735,524 (GRCm39) |
T824I |
probably benign |
Het |
| Ddr1 |
A |
T |
17: 35,993,288 (GRCm39) |
D906E |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,624,015 (GRCm39) |
|
probably null |
Het |
| Dpysl5 |
C |
T |
5: 30,904,417 (GRCm39) |
Q88* |
probably null |
Het |
| Ercc6l2 |
A |
G |
13: 63,967,525 (GRCm39) |
T42A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,748,179 (GRCm39) |
K495E |
possibly damaging |
Het |
| Hr |
T |
C |
14: 70,804,616 (GRCm39) |
V928A |
probably benign |
Het |
| Ints14 |
C |
T |
9: 64,880,007 (GRCm39) |
R174* |
probably null |
Het |
| Jam3 |
T |
C |
9: 27,010,183 (GRCm39) |
Y267C |
probably damaging |
Het |
| Lpin3 |
A |
T |
2: 160,740,565 (GRCm39) |
N370I |
probably benign |
Het |
| Mad2l1 |
C |
A |
6: 66,512,955 (GRCm39) |
N29K |
probably damaging |
Het |
| Myt1 |
A |
G |
2: 181,452,177 (GRCm39) |
K838R |
probably damaging |
Het |
| Ninj2 |
T |
C |
6: 120,174,873 (GRCm39) |
S15P |
probably benign |
Het |
| Or14a256 |
A |
T |
7: 86,265,618 (GRCm39) |
N78K |
probably benign |
Het |
| Or1j14 |
T |
A |
2: 36,418,313 (GRCm39) |
D296E |
probably benign |
Het |
| Or6b9 |
A |
G |
7: 106,555,630 (GRCm39) |
V171A |
probably benign |
Het |
| Or9a2 |
T |
A |
6: 41,749,076 (GRCm39) |
K52N |
probably benign |
Het |
| Osgin2 |
A |
G |
4: 16,006,455 (GRCm39) |
S80P |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,447 (GRCm39) |
N319D |
probably benign |
Het |
| Phkb |
A |
G |
8: 86,567,696 (GRCm39) |
K14E |
probably benign |
Het |
| Polh |
A |
T |
17: 46,510,414 (GRCm39) |
M14K |
probably damaging |
Het |
| Prtg |
A |
G |
9: 72,762,313 (GRCm39) |
D480G |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,456,495 (GRCm39) |
V1099A |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,779,044 (GRCm39) |
F539L |
probably damaging |
Het |
| Rac3 |
A |
T |
11: 120,613,399 (GRCm39) |
T58S |
probably damaging |
Het |
| Setd1a |
A |
T |
7: 127,385,752 (GRCm39) |
I820F |
possibly damaging |
Het |
| Six2 |
A |
G |
17: 85,994,867 (GRCm39) |
F172L |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,515,757 (GRCm39) |
I22F |
probably benign |
Het |
| Tex30 |
T |
C |
1: 44,130,374 (GRCm39) |
|
probably null |
Het |
| Tgfbi |
T |
C |
13: 56,778,411 (GRCm39) |
I394T |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,933,186 (GRCm39) |
F693L |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,119,388 (GRCm39) |
V189E |
probably damaging |
Het |
| Vegfa |
G |
A |
17: 46,342,713 (GRCm39) |
P35L |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,454,836 (GRCm39) |
H1400R |
unknown |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,184 (GRCm39) |
I151T |
possibly damaging |
Het |
| Zfp809 |
T |
C |
9: 22,154,470 (GRCm39) |
C396R |
unknown |
Het |
| Zfp93 |
G |
A |
7: 23,974,894 (GRCm39) |
G293D |
probably damaging |
Het |
|
| Other mutations in Pip5k1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02642:Pip5k1b
|
APN |
19 |
24,323,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0109:Pip5k1b
|
UTSW |
19 |
24,356,411 (GRCm39) |
missense |
probably benign |
|
|
R0109:Pip5k1b
|
UTSW |
19 |
24,356,411 (GRCm39) |
missense |
probably benign |
|
|
R0726:Pip5k1b
|
UTSW |
19 |
24,356,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1737:Pip5k1b
|
UTSW |
19 |
24,374,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Pip5k1b
|
UTSW |
19 |
24,356,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Pip5k1b
|
UTSW |
19 |
24,356,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Pip5k1b
|
UTSW |
19 |
24,356,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Pip5k1b
|
UTSW |
19 |
24,332,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Pip5k1b
|
UTSW |
19 |
24,367,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Pip5k1b
|
UTSW |
19 |
24,281,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5493:Pip5k1b
|
UTSW |
19 |
24,416,439 (GRCm39) |
missense |
probably benign |
|
|
R5514:Pip5k1b
|
UTSW |
19 |
24,327,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5908:Pip5k1b
|
UTSW |
19 |
24,374,501 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6083:Pip5k1b
|
UTSW |
19 |
24,281,399 (GRCm39) |
nonsense |
probably null |
|
|
R6219:Pip5k1b
|
UTSW |
19 |
24,359,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Pip5k1b
|
UTSW |
19 |
24,337,299 (GRCm39) |
splice site |
probably null |
|
|
R7097:Pip5k1b
|
UTSW |
19 |
24,335,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Pip5k1b
|
UTSW |
19 |
24,374,433 (GRCm39) |
missense |
probably benign |
|
|
R7682:Pip5k1b
|
UTSW |
19 |
24,337,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Pip5k1b
|
UTSW |
19 |
24,337,457 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8121:Pip5k1b
|
UTSW |
19 |
24,337,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Pip5k1b
|
UTSW |
19 |
24,332,563 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8865:Pip5k1b
|
UTSW |
19 |
24,374,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Pip5k1b
|
UTSW |
19 |
24,327,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9283:Pip5k1b
|
UTSW |
19 |
24,337,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9375:Pip5k1b
|
UTSW |
19 |
24,416,442 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9380:Pip5k1b
|
UTSW |
19 |
24,356,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Pip5k1b
|
UTSW |
19 |
24,327,581 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9473:Pip5k1b
|
UTSW |
19 |
24,335,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9549:Pip5k1b
|
UTSW |
19 |
24,356,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Pip5k1b
|
UTSW |
19 |
24,356,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGCATATCTCTAGAAGCC -3'
(R):5'- GGACTCAAATCACCTCCTGC -3'
Sequencing Primer
(F):5'- CACAAGCATGCCTGGCTTTAG -3'
(R):5'- GGTGACATTTTCAGGATGACTCACC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation