Incidental Mutation 'IGL03186:Pitpna'
| ID |
412477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pitpna
|
| Ensembl Gene |
ENSMUSG00000017781 |
| Gene Name |
phosphatidylinositol transfer protein, alpha |
| Synonyms |
Pitp alpha, Pitpn |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
IGL03186
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75478923-75519630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75503076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 137
(H137N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102509]
[ENSMUST00000143219]
[ENSMUST00000179445]
[ENSMUST00000179521]
|
| AlphaFold |
P53810 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102509
|
| SMART Domains |
Protein: ENSMUSP00000099567
Gene: ENSMUSG00000017781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
2 |
99 |
1e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143219
AA Change: H136N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781
AA Change: H136N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
2 |
255 |
4.7e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179445
AA Change: H136N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781
AA Change: H136N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
2 |
255 |
6.7e-146 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179521
AA Change: H137N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781
AA Change: H137N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
2 |
254 |
3.2e-123 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate by phosphoinositide-3-kinase. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations of this gene result in motor coordination abnormalities and early death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,581,737 (GRCm39) |
I4769T |
possibly damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,740,695 (GRCm39) |
I106T |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,050,545 (GRCm39) |
D476G |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,290,329 (GRCm39) |
K760E |
probably benign |
Het |
| C030048H21Rik |
A |
G |
2: 26,143,350 (GRCm39) |
|
probably null |
Het |
| Cep152 |
A |
G |
2: 125,405,895 (GRCm39) |
S1546P |
probably benign |
Het |
| Cimap1c |
T |
G |
9: 56,756,356 (GRCm39) |
N220T |
probably benign |
Het |
| Clock |
T |
C |
5: 76,390,929 (GRCm39) |
H291R |
probably damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,411,763 (GRCm39) |
T109A |
probably benign |
Het |
| Igkv1-117 |
T |
C |
6: 68,098,783 (GRCm39) |
Y111H |
probably damaging |
Het |
| Kif20b |
A |
T |
19: 34,912,344 (GRCm39) |
E250V |
probably benign |
Het |
| Mef2c |
A |
G |
13: 83,800,987 (GRCm39) |
N229S |
probably benign |
Het |
| Ndufa9 |
A |
G |
6: 126,821,855 (GRCm39) |
V36A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,100,671 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Neurl1a |
T |
A |
19: 47,228,916 (GRCm39) |
F152Y |
probably damaging |
Het |
| Nlrp14 |
G |
T |
7: 106,785,877 (GRCm39) |
C651F |
probably damaging |
Het |
| Or4a2 |
T |
A |
2: 89,248,188 (GRCm39) |
T190S |
probably damaging |
Het |
| Or5ac20 |
A |
T |
16: 59,104,266 (GRCm39) |
V198E |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,033,200 (GRCm39) |
D316E |
probably benign |
Het |
| Pex2 |
C |
A |
3: 5,626,777 (GRCm39) |
A11S |
probably benign |
Het |
| Pole |
T |
G |
5: 110,447,786 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
A |
14: 30,380,306 (GRCm39) |
I35N |
possibly damaging |
Het |
| Serpina1e |
T |
C |
12: 103,915,462 (GRCm39) |
H248R |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,432,887 (GRCm39) |
A254T |
probably benign |
Het |
| St3gal3 |
G |
A |
4: 117,797,251 (GRCm39) |
P331S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,602,106 (GRCm39) |
K16773* |
probably null |
Het |
| Zfp687 |
T |
C |
3: 94,918,405 (GRCm39) |
T456A |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,932 (GRCm39) |
I220M |
possibly damaging |
Het |
|
| Other mutations in Pitpna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0111:Pitpna
|
UTSW |
11 |
75,516,310 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1854:Pitpna
|
UTSW |
11 |
75,499,929 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3017:Pitpna
|
UTSW |
11 |
75,483,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Pitpna
|
UTSW |
11 |
75,511,153 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5622:Pitpna
|
UTSW |
11 |
75,511,153 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5685:Pitpna
|
UTSW |
11 |
75,511,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Pitpna
|
UTSW |
11 |
75,489,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6602:Pitpna
|
UTSW |
11 |
75,511,141 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6937:Pitpna
|
UTSW |
11 |
75,494,557 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9584:Pitpna
|
UTSW |
11 |
75,510,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation