Incidental Mutation 'R1759:Ppip5k1'
| ID |
195153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppip5k1
|
| Ensembl Gene |
ENSMUSG00000033526 |
| Gene Name |
diphosphoinositol pentakisphosphate kinase 1 |
| Synonyms |
B430315C20Rik, Hisppd2a |
| MMRRC Submission |
039791-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R1759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121141042-121185877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121181067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 13
(T13K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052029]
[ENSMUST00000110625]
[ENSMUST00000110626]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000134796]
|
| AlphaFold |
A2ARP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052029
AA Change: T13K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: T13K
| 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: T13K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: T13K
| 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: T13K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: T13K
| 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: T13K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: T13K
| 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: T13K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: T13K
| 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 |
noncoding transcript
Transcript: ENSMUST00000129276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131661
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134796
AA Change: T13K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137087
|
| SMART Domains |
Protein: ENSMUSP00000115051
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4NZO|A
|
2 |
67 |
3e-29 |
PDB |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.5%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,094,272 (GRCm39) |
M53L |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,184,674 (GRCm39) |
D944G |
probably benign |
Het |
| Ankdd1b |
T |
C |
13: 96,556,211 (GRCm39) |
Y433C |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,209,805 (GRCm39) |
|
probably null |
Het |
| Ap1g1 |
G |
A |
8: 110,559,853 (GRCm39) |
G260E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,275,429 (GRCm39) |
T352S |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,024,729 (GRCm39) |
N166Y |
possibly damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,243 (GRCm39) |
D159E |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 17,607,533 (GRCm39) |
D360E |
probably benign |
Het |
| Col16a1 |
G |
T |
4: 129,978,062 (GRCm39) |
G781V |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,808,045 (GRCm39) |
E1001V |
unknown |
Het |
| Cracdl |
A |
T |
1: 37,664,791 (GRCm39) |
I369N |
probably benign |
Het |
| Cyp3a59 |
T |
G |
5: 146,035,060 (GRCm39) |
M246R |
probably benign |
Het |
| Dcn |
T |
C |
10: 97,349,517 (GRCm39) |
V263A |
probably benign |
Het |
| Dnttip2 |
A |
G |
3: 122,069,798 (GRCm39) |
N338D |
probably benign |
Het |
| Entpd1 |
G |
T |
19: 40,600,968 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
A |
G |
2: 156,363,894 (GRCm39) |
D801G |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,864,762 (GRCm39) |
K23* |
probably null |
Het |
| Gbe1 |
T |
C |
16: 70,284,929 (GRCm39) |
M417T |
probably benign |
Het |
| Gmnc |
T |
A |
16: 26,784,497 (GRCm39) |
S3C |
possibly damaging |
Het |
| Gpr156 |
T |
C |
16: 37,768,583 (GRCm39) |
S35P |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,167,988 (GRCm39) |
M504T |
possibly damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,526,071 (GRCm39) |
V265A |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,399 (GRCm39) |
I308N |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,494,732 (GRCm39) |
D49G |
probably benign |
Het |
| Ipmk |
C |
A |
10: 71,217,133 (GRCm39) |
Q227K |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,181,320 (GRCm39) |
D88V |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,841,047 (GRCm39) |
M84I |
probably damaging |
Het |
| Kcnab2 |
T |
G |
4: 152,477,509 (GRCm39) |
K363Q |
probably damaging |
Het |
| Kdm7a |
C |
A |
6: 39,124,633 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
T |
C |
10: 79,757,612 (GRCm39) |
L322P |
probably damaging |
Het |
| Lce1e |
A |
T |
3: 92,615,178 (GRCm39) |
C56* |
probably null |
Het |
| Lrpprc |
T |
C |
17: 85,047,509 (GRCm39) |
K908E |
probably damaging |
Het |
| Mak |
C |
A |
13: 41,210,110 (GRCm39) |
W42L |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,671,519 (GRCm39) |
T936A |
probably benign |
Het |
| Marchf7 |
C |
T |
2: 60,064,888 (GRCm39) |
S388F |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,012,182 (GRCm39) |
S88R |
probably damaging |
Het |
| Mgat2 |
A |
T |
12: 69,232,301 (GRCm39) |
I292F |
probably benign |
Het |
| Myh3 |
C |
A |
11: 66,987,717 (GRCm39) |
R1397S |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,089,275 (GRCm39) |
D1135G |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,983,956 (GRCm39) |
E1667G |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,450,369 (GRCm39) |
T43A |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,784,767 (GRCm39) |
N124S |
probably benign |
Het |
| Or3a1 |
G |
A |
11: 74,225,808 (GRCm39) |
S83F |
possibly damaging |
Het |
| Or51l14 |
T |
C |
7: 103,101,356 (GRCm39) |
S271P |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,336,775 (GRCm39) |
S7R |
probably benign |
Het |
| Or7g25 |
C |
T |
9: 19,160,384 (GRCm39) |
V104I |
probably benign |
Het |
| Or8b55 |
T |
C |
9: 38,727,194 (GRCm39) |
Y132H |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,733,326 (GRCm39) |
L731P |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,500,717 (GRCm39) |
P1458S |
probably damaging |
Het |
| Pfpl |
A |
G |
19: 12,407,224 (GRCm39) |
T492A |
probably damaging |
Het |
| Pgm1 |
A |
G |
4: 99,824,305 (GRCm39) |
D326G |
probably damaging |
Het |
| Plekhh1 |
T |
A |
12: 79,119,535 (GRCm39) |
Y953N |
probably damaging |
Het |
| Pnkd |
G |
A |
1: 74,387,922 (GRCm39) |
A195T |
probably damaging |
Het |
| Ppib |
C |
T |
9: 65,968,764 (GRCm39) |
Q51* |
probably null |
Het |
| Psmg2 |
A |
T |
18: 67,781,246 (GRCm39) |
S113C |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,974,038 (GRCm39) |
M1584T |
possibly damaging |
Het |
| Rbm12b1 |
A |
C |
4: 12,145,424 (GRCm39) |
R465S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,287 (GRCm39) |
Y1055H |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,996,922 (GRCm39) |
I1250K |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,373,401 (GRCm39) |
V1287F |
probably damaging |
Het |
| Sgce |
A |
T |
6: 4,689,765 (GRCm39) |
I356N |
probably damaging |
Het |
| Sh3tc1 |
C |
T |
5: 35,863,248 (GRCm39) |
E980K |
possibly damaging |
Het |
| Sil1 |
T |
C |
18: 35,551,151 (GRCm39) |
E68G |
possibly damaging |
Het |
| Slc18a1 |
A |
G |
8: 69,518,237 (GRCm39) |
I259T |
possibly damaging |
Het |
| Slc6a20b |
A |
C |
9: 123,438,062 (GRCm39) |
|
probably null |
Het |
| Smg7 |
G |
T |
1: 152,724,597 (GRCm39) |
T536K |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,273,192 (GRCm39) |
Y84C |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
A |
T |
8: 46,216,056 (GRCm39) |
*50C |
probably null |
Het |
| Speg |
A |
T |
1: 75,377,806 (GRCm39) |
M855L |
possibly damaging |
Het |
| Srrt |
G |
T |
5: 137,301,212 (GRCm39) |
H71Q |
probably damaging |
Het |
| St6galnac5 |
A |
G |
3: 152,552,130 (GRCm39) |
S146P |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,299,369 (GRCm39) |
Q962L |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,566,278 (GRCm39) |
H1441R |
probably damaging |
Het |
| Tmem45a |
C |
T |
16: 56,642,765 (GRCm39) |
M135I |
probably benign |
Het |
| Tpr |
A |
T |
1: 150,305,275 (GRCm39) |
E1521D |
probably benign |
Het |
| Uba3 |
C |
T |
6: 97,173,865 (GRCm39) |
G107R |
probably damaging |
Het |
| Unc45b |
G |
T |
11: 82,820,325 (GRCm39) |
V590F |
probably benign |
Het |
| Vmn1r14 |
A |
T |
6: 57,211,297 (GRCm39) |
T292S |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,914,755 (GRCm39) |
N773K |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Wfs1 |
G |
C |
5: 37,124,359 (GRCm39) |
A844G |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,836,412 (GRCm39) |
T71A |
possibly damaging |
Het |
| Zfp507 |
C |
A |
7: 35,475,403 (GRCm39) |
A145S |
probably damaging |
Het |
| Zfp971 |
A |
T |
2: 177,675,722 (GRCm39) |
E440D |
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 |
|
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'- AGGGGTTTCAGAGCAGCAATCCAC -3'
(R):5'- GAAAGGAGTCATCGCTTCCCTCTTG -3'
Sequencing Primer
(F):5'- TAGAACCTGTTTATAAGAGGGAGTC -3'
(R):5'- AGTCCTGTCAAGTCACATAGTTTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation