Incidental Mutation 'R0885:Pip4p1'
| ID |
81200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip4p1
|
| Ensembl Gene |
ENSMUSG00000035953 |
| Gene Name |
phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 |
| Synonyms |
Tmem55b |
| MMRRC Submission |
039052-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
R0885 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51164672-51168306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51167763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 54
(E54G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049312]
[ENSMUST00000049411]
[ENSMUST00000128395]
[ENSMUST00000136753]
[ENSMUST00000154288]
[ENSMUST00000160835]
[ENSMUST00000161166]
[ENSMUST00000160538]
[ENSMUST00000162957]
[ENSMUST00000226871]
|
| AlphaFold |
Q3TWL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049312
AA Change: E54G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953
AA Change: E54G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_55A
|
1 |
270 |
9.8e-132 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049411
|
| SMART Domains |
Protein: ENSMUSP00000042602
Gene: ENSMUSG00000035960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
40 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
64 |
308 |
1.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128395
|
| SMART Domains |
Protein: ENSMUSP00000116319
Gene: ENSMUSG00000035960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
35 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
59 |
280 |
2.3e-24 |
PFAM |
|
Pfam:Exo_endo_phos_2
|
138 |
284 |
4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136753
|
| SMART Domains |
Protein: ENSMUSP00000123148
Gene: ENSMUSG00000035960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
40 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
64 |
177 |
3.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154288
|
| SMART Domains |
Protein: ENSMUSP00000122343
Gene: ENSMUSG00000035960
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
40 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
64 |
214 |
1.1e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160835
AA Change: E61G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_55A
|
4 |
277 |
2.8e-129 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161166
AA Change: E54G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125414
Gene: ENSMUSG00000035953
AA Change: E54G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_55A
|
1 |
168 |
3.6e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160538
AA Change: E61G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_55A
|
1 |
197 |
1.9e-82 |
PFAM |
|
low complexity region
|
221 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162957
AA Change: E61G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123697
Gene: ENSMUSG00000035953
AA Change: E61G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_55A
|
1 |
174 |
2.9e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163043
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161669
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226871
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
T |
A |
7: 29,980,094 (GRCm39) |
Y46* |
probably null |
Het |
| Adam18 |
T |
C |
8: 25,141,802 (GRCm39) |
K256E |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,249,595 (GRCm39) |
H568Q |
probably benign |
Het |
| Ambp |
A |
G |
4: 63,069,705 (GRCm39) |
L107P |
probably damaging |
Het |
| Art1 |
T |
C |
7: 101,756,541 (GRCm39) |
F244S |
probably damaging |
Het |
| Asxl2 |
C |
A |
12: 3,551,458 (GRCm39) |
L1067I |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,371,123 (GRCm39) |
T2242A |
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,298,772 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
G |
11: 106,934,617 (GRCm39) |
Y2819H |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,724,668 (GRCm39) |
R1152H |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,866,432 (GRCm39) |
L868Q |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,116 (GRCm39) |
E178G |
unknown |
Het |
| Dclk1 |
G |
T |
3: 55,394,728 (GRCm39) |
R103S |
probably damaging |
Het |
| Des |
A |
G |
1: 75,337,374 (GRCm39) |
T105A |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,827,613 (GRCm39) |
T262A |
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,359,576 (GRCm39) |
V759A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,246,539 (GRCm39) |
F1078I |
probably damaging |
Het |
| Il20 |
T |
C |
1: 130,838,518 (GRCm39) |
I60V |
probably benign |
Het |
| Kif3c |
A |
T |
12: 3,415,981 (GRCm39) |
M1L |
probably benign |
Het |
| Lhfpl5 |
A |
T |
17: 28,795,011 (GRCm39) |
I13F |
probably damaging |
Het |
| Lin28b |
C |
T |
10: 45,257,324 (GRCm39) |
G218E |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,312,697 (GRCm39) |
N2530K |
possibly damaging |
Het |
| Matn2 |
T |
A |
15: 34,316,751 (GRCm39) |
F31Y |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,276,670 (GRCm39) |
N307D |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
| Mpdz |
T |
A |
4: 81,287,829 (GRCm39) |
T477S |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,292,844 (GRCm39) |
G236W |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,784,335 (GRCm39) |
D145G |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,149,503 (GRCm39) |
S150P |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,876,048 (GRCm39) |
S360* |
probably null |
Het |
| Or2ak6 |
C |
T |
11: 58,592,913 (GRCm39) |
P129S |
possibly damaging |
Het |
| Phip |
C |
A |
9: 82,757,448 (GRCm39) |
A1575S |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,326,864 (GRCm39) |
M266T |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prag1 |
T |
C |
8: 36,570,421 (GRCm39) |
F335L |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,058,399 (GRCm39) |
Y137H |
probably damaging |
Het |
| Psme3ip1 |
C |
A |
8: 95,302,407 (GRCm39) |
C208F |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,357,357 (GRCm39) |
D184G |
possibly damaging |
Het |
| Ptpn5 |
T |
C |
7: 46,738,359 (GRCm39) |
Y241C |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,053,401 (GRCm39) |
V1193M |
probably benign |
Het |
| Raet1e |
T |
A |
10: 22,057,986 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,001,934 (GRCm39) |
D282G |
probably benign |
Het |
| Sis |
G |
A |
3: 72,819,282 (GRCm39) |
R1425* |
probably null |
Het |
| Slco2a1 |
G |
T |
9: 102,959,582 (GRCm39) |
M559I |
probably damaging |
Het |
| Spata4 |
C |
T |
8: 55,053,879 (GRCm39) |
A15V |
probably damaging |
Het |
| Spop |
T |
C |
11: 95,361,453 (GRCm39) |
S14P |
probably benign |
Het |
| Tcof1 |
A |
T |
18: 60,968,922 (GRCm39) |
D230E |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,455,803 (GRCm39) |
L277* |
probably null |
Het |
| Ubxn10 |
A |
T |
4: 138,447,881 (GRCm39) |
V265E |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,239,848 (GRCm39) |
Y179F |
probably benign |
Het |
| Wdr37 |
A |
C |
13: 8,885,288 (GRCm39) |
|
probably null |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
probably benign |
Het |
|
| Other mutations in Pip4p1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02310:Pip4p1
|
APN |
14 |
51,166,667 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0016:Pip4p1
|
UTSW |
14 |
51,166,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Pip4p1
|
UTSW |
14 |
51,167,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Pip4p1
|
UTSW |
14 |
51,167,115 (GRCm39) |
nonsense |
probably null |
|
|
R4202:Pip4p1
|
UTSW |
14 |
51,168,112 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4992:Pip4p1
|
UTSW |
14 |
51,166,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5381:Pip4p1
|
UTSW |
14 |
51,166,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5629:Pip4p1
|
UTSW |
14 |
51,165,373 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5844:Pip4p1
|
UTSW |
14 |
51,166,499 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5865:Pip4p1
|
UTSW |
14 |
51,166,332 (GRCm39) |
unclassified |
probably benign |
|
|
R7177:Pip4p1
|
UTSW |
14 |
51,167,634 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7732:Pip4p1
|
UTSW |
14 |
51,168,090 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8773:Pip4p1
|
UTSW |
14 |
51,166,503 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9751:Pip4p1
|
UTSW |
14 |
51,165,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTTGCCAGCAGAGTAGAGTGTG -3'
(R):5'- CTGAAAGCGGGTTTTGAGGAAACTG -3'
Sequencing Primer
(F):5'- GTGAGAACTACACTTCAGGTCCAG -3'
(R):5'- TTTGAGGAAACTGATCTGAGCG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation