Incidental Mutation 'R7901:Ppip5k1'
| ID |
609975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
045953-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R7901 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121142390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1353
(Q1353R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000094639]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000110639]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052029
AA Change: Q1353R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: Q1353R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.8e-110 |
PFAM |
|
low complexity region
|
1163 |
1181 |
N/A |
INTRINSIC |
|
coiled coil region
|
1402 |
1430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094639
|
| SMART Domains |
Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
286 |
538 |
2e-54 |
BLAST |
|
SCOP:d1eq1a_
|
584 |
699 |
8e-5 |
SMART |
|
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
1228 |
1239 |
N/A |
INTRINSIC |
|
low complexity region
|
1334 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1540 |
1555 |
N/A |
INTRINSIC |
|
coiled coil region
|
1573 |
1602 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1616 |
1726 |
7.66e-6 |
PROSPERO |
|
coiled coil region
|
1747 |
1771 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1774 |
1888 |
7.66e-6 |
PROSPERO |
|
low complexity region
|
2060 |
2084 |
N/A |
INTRINSIC |
|
low complexity region
|
2121 |
2133 |
N/A |
INTRINSIC |
|
low complexity region
|
2156 |
2169 |
N/A |
INTRINSIC |
|
low complexity region
|
2383 |
2396 |
N/A |
INTRINSIC |
|
low complexity region
|
2436 |
2460 |
N/A |
INTRINSIC |
|
low complexity region
|
2517 |
2541 |
N/A |
INTRINSIC |
|
low complexity region
|
2589 |
2600 |
N/A |
INTRINSIC |
|
low complexity region
|
2662 |
2682 |
N/A |
INTRINSIC |
|
low complexity region
|
2685 |
2704 |
N/A |
INTRINSIC |
|
low complexity region
|
2716 |
2728 |
N/A |
INTRINSIC |
|
low complexity region
|
2766 |
2790 |
N/A |
INTRINSIC |
|
low complexity region
|
2980 |
2988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110625
AA Change: Q1332R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: Q1332R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
|
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
|
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110626
AA Change: Q1353R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: Q1353R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
1.1e-135 |
PFAM |
|
low complexity region
|
1163 |
1181 |
N/A |
INTRINSIC |
|
coiled coil region
|
1402 |
1430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110627
AA Change: Q1332R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: Q1332R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
|
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
|
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110628
AA Change: Q1333R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: Q1333R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
886 |
3.9e-101 |
PFAM |
|
low complexity region
|
1143 |
1161 |
N/A |
INTRINSIC |
|
coiled coil region
|
1382 |
1410 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110639
|
| SMART Domains |
Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
48 |
300 |
3e-54 |
BLAST |
|
SCOP:d1eq1a_
|
346 |
461 |
1e-4 |
SMART |
|
low complexity region
|
505 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1106 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1317 |
N/A |
INTRINSIC |
|
coiled coil region
|
1335 |
1364 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1378 |
1488 |
5.43e-6 |
PROSPERO |
|
coiled coil region
|
1509 |
1533 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1536 |
1650 |
5.43e-6 |
PROSPERO |
|
low complexity region
|
1822 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1883 |
1895 |
N/A |
INTRINSIC |
|
low complexity region
|
1918 |
1931 |
N/A |
INTRINSIC |
|
low complexity region
|
2145 |
2158 |
N/A |
INTRINSIC |
|
low complexity region
|
2198 |
2222 |
N/A |
INTRINSIC |
|
low complexity region
|
2279 |
2303 |
N/A |
INTRINSIC |
|
low complexity region
|
2351 |
2362 |
N/A |
INTRINSIC |
|
low complexity region
|
2424 |
2444 |
N/A |
INTRINSIC |
|
low complexity region
|
2447 |
2466 |
N/A |
INTRINSIC |
|
low complexity region
|
2478 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2528 |
2552 |
N/A |
INTRINSIC |
|
low complexity region
|
2742 |
2750 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1425 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,119,434 (GRCm39) |
|
probably null |
Het |
| Adpgk |
T |
C |
9: 59,222,300 (GRCm39) |
V409A |
probably benign |
Het |
| Agfg2 |
A |
T |
5: 137,665,966 (GRCm39) |
F98I |
probably damaging |
Het |
| Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
| Asb8 |
T |
C |
15: 98,040,614 (GRCm39) |
Y16C |
probably damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccnt1 |
A |
T |
15: 98,441,797 (GRCm39) |
D490E |
probably benign |
Het |
| Cenpf |
G |
T |
1: 189,389,445 (GRCm39) |
D1462E |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,095,202 (GRCm39) |
R736H |
probably damaging |
Het |
| Col4a2 |
A |
T |
8: 11,479,358 (GRCm39) |
D747V |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,299,190 (GRCm39) |
E3126G |
unknown |
Het |
| Crybg3 |
T |
C |
16: 59,377,907 (GRCm39) |
T1116A |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,243,368 (GRCm39) |
L128Q |
probably damaging |
Het |
| Ddx17 |
A |
T |
15: 79,422,789 (GRCm39) |
D316E |
probably damaging |
Het |
| Ect2l |
T |
A |
10: 18,017,712 (GRCm39) |
D681V |
possibly damaging |
Het |
| Ell2 |
A |
T |
13: 75,912,105 (GRCm39) |
K464* |
probably null |
Het |
| Eme1 |
G |
T |
11: 94,541,645 (GRCm39) |
P59Q |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,294,821 (GRCm39) |
S2P |
possibly damaging |
Het |
| Fndc9 |
T |
C |
11: 46,128,576 (GRCm39) |
Y32H |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,877,614 (GRCm39) |
T1321K |
probably benign |
Het |
| Gabrg2 |
A |
G |
11: 41,867,418 (GRCm39) |
V67A |
probably benign |
Het |
| Gm4553 |
ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG |
ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG |
7: 141,718,602 (GRCm39) |
|
probably benign |
Het |
| Gm5145 |
A |
C |
17: 20,790,900 (GRCm39) |
I93L |
possibly damaging |
Het |
| Gpld1 |
T |
A |
13: 25,146,758 (GRCm39) |
V240E |
probably damaging |
Het |
| Gsc |
T |
A |
12: 104,439,131 (GRCm39) |
S82C |
possibly damaging |
Het |
| H2-T10 |
C |
T |
17: 36,431,143 (GRCm39) |
E173K |
probably benign |
Het |
| Ifi213 |
A |
T |
1: 173,394,784 (GRCm39) |
S584T |
probably benign |
Het |
| Klk1b1 |
T |
C |
7: 43,620,669 (GRCm39) |
I253T |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,040,113 (GRCm39) |
L53P |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,216,722 (GRCm39) |
Y1697H |
probably benign |
Het |
| Mrs2 |
T |
A |
13: 25,202,549 (GRCm39) |
D64V |
possibly damaging |
Het |
| Muc13 |
A |
G |
16: 33,636,211 (GRCm39) |
Q565R |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,507,353 (GRCm39) |
V873A |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,145,926 (GRCm39) |
P159L |
possibly damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,898 (GRCm39) |
H171L |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,573 (GRCm39) |
S240T |
probably damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,887 (GRCm39) |
|
probably null |
Het |
| Phip |
T |
G |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Ptprb |
C |
G |
10: 116,205,333 (GRCm39) |
P1896A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,154,799 (GRCm39) |
L601P |
possibly damaging |
Het |
| Sash1 |
C |
T |
10: 8,656,328 (GRCm39) |
W221* |
probably null |
Het |
| Skint1 |
A |
C |
4: 111,876,399 (GRCm39) |
T107P |
probably damaging |
Het |
| Slc45a4 |
G |
A |
15: 73,477,621 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,624 (GRCm39) |
D309E |
probably benign |
Het |
| Spcs1 |
A |
G |
14: 30,722,628 (GRCm39) |
Y64H |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,064,308 (GRCm39) |
Y2434N |
possibly damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,568,990 (GRCm39) |
E454G |
possibly damaging |
Het |
| Tsg101 |
G |
T |
7: 46,563,183 (GRCm39) |
Q24K |
probably benign |
Het |
| Ttc6 |
C |
T |
12: 57,735,353 (GRCm39) |
R1132W |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,437,627 (GRCm39) |
S200P |
probably damaging |
Het |
| Uts2r |
G |
A |
11: 121,052,234 (GRCm39) |
S366N |
probably benign |
Het |
| Wbp4 |
A |
T |
14: 79,709,845 (GRCm39) |
V130E |
probably damaging |
Het |
| Zfp592 |
T |
G |
7: 80,674,469 (GRCm39) |
S478A |
probably benign |
Het |
| Zfp664 |
A |
T |
5: 124,962,839 (GRCm39) |
K78* |
probably null |
Het |
| Zfp738 |
A |
T |
13: 67,821,110 (GRCm39) |
L79* |
probably null |
Het |
| Zfyve28 |
C |
T |
5: 34,382,326 (GRCm39) |
R258Q |
probably damaging |
Het |
|
| Other mutations in Ppip5k1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Ppip5k1
|
APN |
2 |
121,177,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01154:Ppip5k1
|
APN |
2 |
121,173,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01341:Ppip5k1
|
APN |
2 |
121,173,691 (GRCm39) |
nonsense |
probably null |
|
|
IGL01704:Ppip5k1
|
APN |
2 |
121,142,555 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01949:Ppip5k1
|
APN |
2 |
121,168,341 (GRCm39) |
missense |
probably benign |
|
|
IGL02101:Ppip5k1
|
APN |
2 |
121,162,089 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02499:Ppip5k1
|
APN |
2 |
121,162,034 (GRCm39) |
splice site |
probably null |
|
|
IGL02701:Ppip5k1
|
APN |
2 |
121,147,130 (GRCm39) |
splice site |
probably null |
|
|
IGL03188:Ppip5k1
|
APN |
2 |
121,157,327 (GRCm39) |
unclassified |
probably benign |
|
|
boca
|
UTSW |
2 |
121,142,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
lapidus
|
UTSW |
2 |
121,167,944 (GRCm39) |
missense |
probably benign |
0.29 |
|
Roca
|
UTSW |
2 |
121,167,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0363:Ppip5k1
|
UTSW |
2 |
121,177,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1315:Ppip5k1
|
UTSW |
2 |
121,142,486 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1664:Ppip5k1
|
UTSW |
2 |
121,167,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1753:Ppip5k1
|
UTSW |
2 |
121,173,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Ppip5k1
|
UTSW |
2 |
121,181,067 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1763:Ppip5k1
|
UTSW |
2 |
121,179,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Ppip5k1
|
UTSW |
2 |
121,168,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2037:Ppip5k1
|
UTSW |
2 |
121,173,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Ppip5k1
|
UTSW |
2 |
121,173,352 (GRCm39) |
unclassified |
probably benign |
|
|
R2103:Ppip5k1
|
UTSW |
2 |
121,152,134 (GRCm39) |
splice site |
probably null |
|
|
R3414:Ppip5k1
|
UTSW |
2 |
121,158,142 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4022:Ppip5k1
|
UTSW |
2 |
121,168,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Ppip5k1
|
UTSW |
2 |
121,174,044 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4783:Ppip5k1
|
UTSW |
2 |
121,171,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4843:Ppip5k1
|
UTSW |
2 |
121,157,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Ppip5k1
|
UTSW |
2 |
121,142,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Ppip5k1
|
UTSW |
2 |
121,142,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5493:Ppip5k1
|
UTSW |
2 |
121,167,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Ppip5k1
|
UTSW |
2 |
121,147,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5835:Ppip5k1
|
UTSW |
2 |
121,168,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5987:Ppip5k1
|
UTSW |
2 |
121,180,972 (GRCm39) |
nonsense |
probably null |
|
|
R6076:Ppip5k1
|
UTSW |
2 |
121,167,591 (GRCm39) |
missense |
probably null |
1.00 |
|
R6088:Ppip5k1
|
UTSW |
2 |
121,167,944 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6276:Ppip5k1
|
UTSW |
2 |
121,153,684 (GRCm39) |
unclassified |
probably benign |
|
|
R6555:Ppip5k1
|
UTSW |
2 |
121,168,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6878:Ppip5k1
|
UTSW |
2 |
121,142,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7075:Ppip5k1
|
UTSW |
2 |
121,152,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Ppip5k1
|
UTSW |
2 |
121,178,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7332:Ppip5k1
|
UTSW |
2 |
121,142,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7359:Ppip5k1
|
UTSW |
2 |
121,171,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7462:Ppip5k1
|
UTSW |
2 |
121,167,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7568:Ppip5k1
|
UTSW |
2 |
121,168,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Ppip5k1
|
UTSW |
2 |
121,179,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Ppip5k1
|
UTSW |
2 |
121,168,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Ppip5k1
|
UTSW |
2 |
121,173,276 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7877:Ppip5k1
|
UTSW |
2 |
121,147,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7896:Ppip5k1
|
UTSW |
2 |
121,177,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Ppip5k1
|
UTSW |
2 |
121,173,139 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8167:Ppip5k1
|
UTSW |
2 |
121,173,282 (GRCm39) |
nonsense |
probably null |
|
|
R8179:Ppip5k1
|
UTSW |
2 |
121,172,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8766:Ppip5k1
|
UTSW |
2 |
121,166,919 (GRCm39) |
nonsense |
probably null |
|
|
R8954:Ppip5k1
|
UTSW |
2 |
121,153,701 (GRCm39) |
unclassified |
probably benign |
|
|
R8981:Ppip5k1
|
UTSW |
2 |
121,158,121 (GRCm39) |
unclassified |
probably benign |
|
|
R9127:Ppip5k1
|
UTSW |
2 |
121,158,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9165:Ppip5k1
|
UTSW |
2 |
121,162,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Ppip5k1
|
UTSW |
2 |
121,164,932 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9338:Ppip5k1
|
UTSW |
2 |
121,153,827 (GRCm39) |
missense |
|
|
|
R9662:Ppip5k1
|
UTSW |
2 |
121,174,054 (GRCm39) |
missense |
probably benign |
0.15 |
|
X0020:Ppip5k1
|
UTSW |
2 |
121,172,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ppip5k1
|
UTSW |
2 |
121,168,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTGATCAATCTCCTCAGAG -3'
(R):5'- GTTGCTGAAGGACCATGACAC -3'
Sequencing Primer
(F):5'- TCAGAGACCTCCTGAGCCTG -3'
(R):5'- TTGCTGAAGGACCATGACACTACTAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation