Incidental Mutation 'R1664:Ppip5k1'
| ID |
186987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
039700-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R1664 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121167663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 784
(V784A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000155568]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052029
AA Change: V784A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: V784A
| 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: ENSMUST00000110625
AA Change: V784A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: V784A
| 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 benign
Transcript: ENSMUST00000110626
AA Change: V784A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: V784A
| 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 benign
Transcript: ENSMUST00000110627
AA Change: V784A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: V784A
| 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 benign
Transcript: ENSMUST00000110628
AA Change: V784A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: V784A
| 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: ENSMUST00000127255
|
| SMART Domains |
Protein: ENSMUSP00000118597
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
54 |
6.7e-9 |
PFAM |
|
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132114
|
| SMART Domains |
Protein: ENSMUSP00000117948
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
117 |
1.4e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155568
|
| SMART Domains |
Protein: ENSMUSP00000116335
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:His_Phos_2
|
1 |
107 |
8.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132613
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,772 (GRCm39) |
T45S |
probably benign |
Het |
| Ackr1 |
A |
G |
1: 173,160,433 (GRCm39) |
F29L |
probably benign |
Het |
| Adgrf2 |
T |
A |
17: 43,025,305 (GRCm39) |
S60C |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,944 (GRCm39) |
C355R |
probably damaging |
Het |
| Ankmy1 |
A |
C |
1: 92,812,913 (GRCm39) |
D465E |
probably benign |
Het |
| Ankrd27 |
T |
A |
7: 35,306,551 (GRCm39) |
D310E |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,553,571 (GRCm39) |
Q559* |
probably null |
Het |
| C4b |
T |
C |
17: 34,951,952 (GRCm39) |
T1298A |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,330,327 (GRCm39) |
K336* |
probably null |
Het |
| Ccdc116 |
A |
T |
16: 16,960,492 (GRCm39) |
D108E |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,098,387 (GRCm39) |
I904F |
possibly damaging |
Het |
| Ccr7 |
A |
T |
11: 99,036,517 (GRCm39) |
I135N |
possibly damaging |
Het |
| Cd96 |
A |
G |
16: 45,938,364 (GRCm39) |
Y34H |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,550,987 (GRCm39) |
D1135V |
probably damaging |
Het |
| Cecr2 |
C |
A |
6: 120,738,987 (GRCm39) |
T1210K |
probably damaging |
Het |
| Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
| Chd9 |
T |
G |
8: 91,749,418 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
G |
T |
17: 58,600,985 (GRCm39) |
W776L |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,095,355 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
G |
T |
6: 30,554,314 (GRCm39) |
M311I |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,664,087 (GRCm39) |
F483L |
probably damaging |
Het |
| Ddx19a |
A |
C |
8: 111,716,130 (GRCm39) |
V90G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw7 |
A |
G |
3: 84,876,478 (GRCm39) |
D213G |
possibly damaging |
Het |
| Fgd2 |
T |
C |
17: 29,588,273 (GRCm39) |
F362L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,216,778 (GRCm39) |
Y2171H |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,578,080 (GRCm39) |
R90G |
probably benign |
Het |
| Gm10073 |
T |
C |
8: 107,299,864 (GRCm39) |
E40G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,279,861 (GRCm39) |
I398V |
probably benign |
Het |
| Grip2 |
T |
A |
6: 91,742,233 (GRCm39) |
H899L |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,337,268 (GRCm39) |
K644E |
possibly damaging |
Het |
| Iars1 |
A |
T |
13: 49,865,251 (GRCm39) |
T576S |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,759,704 (GRCm39) |
V2084M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc69 |
G |
A |
4: 14,775,079 (GRCm39) |
T63M |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,711,886 (GRCm39) |
C646S |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,252,342 (GRCm39) |
T457M |
probably damaging |
Het |
| Ncln |
A |
T |
10: 81,323,555 (GRCm39) |
C531S |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,784 (GRCm39) |
I44V |
probably benign |
Het |
| Or5v1 |
C |
T |
17: 37,810,316 (GRCm39) |
T258M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,548 (GRCm39) |
M124L |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,642,437 (GRCm39) |
V1331A |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,723,615 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,705,758 (GRCm39) |
E514G |
possibly damaging |
Het |
| Pclaf |
A |
G |
9: 65,797,730 (GRCm39) |
N7S |
probably benign |
Het |
| Pdrg1 |
C |
T |
2: 152,857,248 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
A |
17: 33,285,492 (GRCm39) |
I437F |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,426,932 (GRCm39) |
D464E |
probably benign |
Het |
| Pkp3 |
A |
G |
7: 140,667,560 (GRCm39) |
N454D |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,734,269 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
T |
A |
12: 76,483,028 (GRCm39) |
D205E |
possibly damaging |
Het |
| Prss35 |
A |
T |
9: 86,637,700 (GRCm39) |
T157S |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,125,329 (GRCm39) |
L621P |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,831,172 (GRCm39) |
K524R |
probably damaging |
Het |
| Rasgrp4 |
T |
A |
7: 28,839,688 (GRCm39) |
H133Q |
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,084 (GRCm39) |
Y2615N |
probably damaging |
Het |
| Rpf1 |
T |
A |
3: 146,217,903 (GRCm39) |
T204S |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,058,464 (GRCm39) |
*113L |
probably null |
Het |
| Scn5a |
A |
C |
9: 119,350,243 (GRCm39) |
L877R |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,821 (GRCm39) |
D632E |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,865,269 (GRCm39) |
H522R |
probably damaging |
Het |
| Spink2 |
A |
T |
5: 77,354,855 (GRCm39) |
C19S |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,878,266 (GRCm39) |
L19P |
possibly damaging |
Het |
| St7l |
T |
C |
3: 104,778,214 (GRCm39) |
V117A |
probably damaging |
Het |
| Stac2 |
C |
T |
11: 97,933,420 (GRCm39) |
S174N |
probably damaging |
Het |
| Sult4a1 |
A |
G |
15: 83,970,818 (GRCm39) |
Y196H |
probably benign |
Het |
| Tex2 |
C |
T |
11: 106,458,608 (GRCm39) |
|
probably benign |
Het |
| Tprg1l |
A |
T |
4: 154,243,862 (GRCm39) |
V98D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,548,369 (GRCm39) |
H31978Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,658,853 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
C |
A |
9: 21,031,649 (GRCm39) |
R447L |
probably damaging |
Het |
| Ucn3 |
T |
C |
13: 3,991,634 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,584,970 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
C |
17: 18,464,406 (GRCm39) |
A628G |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,518,752 (GRCm39) |
T389K |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,770,794 (GRCm39) |
|
probably null |
Het |
| Xab2 |
T |
A |
8: 3,669,068 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
T |
13: 67,406,144 (GRCm39) |
N95K |
possibly damaging |
Het |
| Zfp672 |
T |
C |
11: 58,208,138 (GRCm39) |
H61R |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,420 (GRCm39) |
G403E |
possibly 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 |
|
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 |
|
R7901:Ppip5k1
|
UTSW |
2 |
121,142,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CAAGGAGGCTGCTTACATCGAGAAG -3'
(R):5'- GGCTCTGGGTGAACATCAAGACTG -3'
Sequencing Primer
(F):5'- AGTGAACATGACTCTCACTGG -3'
(R):5'- CATCAAGACTGACTGAGGAAATGTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation