Incidental Mutation 'IGL02434:Pitpnm1'
ID |
293216 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pitpnm1
|
Ensembl Gene |
ENSMUSG00000024851 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
Synonyms |
RdgB, DRES9 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02434
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4153377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 178
(R178W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025779]
[ENSMUST00000049658]
[ENSMUST00000100022]
[ENSMUST00000131265]
[ENSMUST00000174514]
[ENSMUST00000174799]
|
AlphaFold |
O35954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025779
|
SMART Domains |
Protein: ENSMUSP00000025779 Gene: ENSMUSG00000024856
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
44 |
N/A |
INTRINSIC |
Pfam:CDK2AP
|
58 |
126 |
1.4e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049658
AA Change: R178W
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000054309 Gene: ENSMUSG00000024851 AA Change: R178W
Domain | Start | End | E-Value | Type |
Pfam:IP_trans
|
1 |
252 |
2e-145 |
PFAM |
low complexity region
|
284 |
304 |
N/A |
INTRINSIC |
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
low complexity region
|
342 |
349 |
N/A |
INTRINSIC |
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
DDHD
|
685 |
879 |
5.94e-86 |
SMART |
Blast:DDHD
|
880 |
963 |
2e-42 |
BLAST |
LNS2
|
1022 |
1153 |
1.35e-57 |
SMART |
low complexity region
|
1184 |
1195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100022
AA Change: R178W
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097599 Gene: ENSMUSG00000024851 AA Change: R178W
Domain | Start | End | E-Value | Type |
Pfam:IP_trans
|
1 |
250 |
1.6e-113 |
PFAM |
low complexity region
|
284 |
304 |
N/A |
INTRINSIC |
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
low complexity region
|
342 |
349 |
N/A |
INTRINSIC |
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
DDHD
|
685 |
879 |
5.94e-86 |
SMART |
Blast:DDHD
|
880 |
963 |
2e-42 |
BLAST |
LNS2
|
1022 |
1153 |
1.35e-57 |
SMART |
low complexity region
|
1184 |
1195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131265
AA Change: R178W
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120563 Gene: ENSMUSG00000024851 AA Change: R178W
Domain | Start | End | E-Value | Type |
Pfam:IP_trans
|
1 |
252 |
5e-147 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172914
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174514
|
SMART Domains |
Protein: ENSMUSP00000134093 Gene: ENSMUSG00000024856
Domain | Start | End | E-Value | Type |
Pfam:CDK2AP
|
30 |
107 |
8.1e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174799
|
SMART Domains |
Protein: ENSMUSP00000133593 Gene: ENSMUSG00000024856
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
44 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit male-specific decrease in circulating cholesterol and circulating calcium levels and female-specific decreased leukocyte cell numbers and a slight increase in auditory brainstem response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
C |
A |
15: 72,992,930 (GRCm39) |
G525V |
probably damaging |
Het |
Agxt2 |
T |
C |
15: 10,358,686 (GRCm39) |
S2P |
possibly damaging |
Het |
Atg2b |
C |
T |
12: 105,605,466 (GRCm39) |
V339I |
probably benign |
Het |
Btc |
T |
A |
5: 91,510,186 (GRCm39) |
I136F |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,604,492 (GRCm39) |
M850K |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,902,616 (GRCm39) |
T179S |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,752,145 (GRCm39) |
L214P |
probably benign |
Het |
Garnl3 |
T |
A |
2: 32,944,217 (GRCm39) |
N114I |
probably damaging |
Het |
Gm10010 |
G |
T |
6: 128,177,433 (GRCm39) |
|
noncoding transcript |
Het |
Gstcd |
A |
G |
3: 132,701,963 (GRCm39) |
|
probably benign |
Het |
Htr2b |
A |
G |
1: 86,038,492 (GRCm39) |
V38A |
probably benign |
Het |
Hyal4 |
G |
A |
6: 24,763,857 (GRCm39) |
W339* |
probably null |
Het |
Ifnb1 |
A |
G |
4: 88,440,755 (GRCm39) |
V86A |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,466,883 (GRCm39) |
|
probably null |
Het |
Jag1 |
T |
C |
2: 136,929,075 (GRCm39) |
S794G |
probably benign |
Het |
Kdm5c |
T |
A |
X: 151,016,558 (GRCm39) |
M1K |
probably null |
Het |
Lct |
A |
G |
1: 128,231,527 (GRCm39) |
V774A |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Med14 |
A |
T |
X: 12,612,063 (GRCm39) |
D371E |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,637,026 (GRCm39) |
|
probably benign |
Het |
Or14j10 |
T |
A |
17: 37,935,467 (GRCm39) |
N20Y |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,279 (GRCm39) |
M220K |
probably benign |
Het |
Or52e18 |
A |
T |
7: 104,609,281 (GRCm39) |
Y219* |
probably null |
Het |
Prb1b |
T |
A |
6: 132,289,339 (GRCm39) |
R162W |
unknown |
Het |
Prkcg |
A |
G |
7: 3,367,406 (GRCm39) |
I324V |
probably benign |
Het |
Prr30 |
A |
T |
14: 101,435,804 (GRCm39) |
C253S |
possibly damaging |
Het |
Ptgis |
A |
T |
2: 167,082,262 (GRCm39) |
|
probably null |
Het |
Rab11fip3 |
C |
T |
17: 26,287,809 (GRCm39) |
A115T |
possibly damaging |
Het |
Reps2 |
C |
T |
X: 161,309,253 (GRCm39) |
|
probably null |
Het |
Rev3l |
A |
G |
10: 39,698,587 (GRCm39) |
D1028G |
probably damaging |
Het |
Rsbn1l |
T |
C |
5: 21,124,732 (GRCm39) |
R357G |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,362,859 (GRCm39) |
L587P |
possibly damaging |
Het |
Tanc2 |
C |
T |
11: 105,670,868 (GRCm39) |
T155I |
probably benign |
Het |
Tfb2m |
A |
G |
1: 179,359,700 (GRCm39) |
|
probably benign |
Het |
Tfpi |
A |
G |
2: 84,282,892 (GRCm39) |
|
probably benign |
Het |
Tg |
T |
C |
15: 66,636,191 (GRCm39) |
S593P |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,839,910 (GRCm39) |
S314G |
probably benign |
Het |
|
Other mutations in Pitpnm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00886:Pitpnm1
|
APN |
19 |
4,160,665 (GRCm39) |
splice site |
probably null |
|
IGL00978:Pitpnm1
|
APN |
19 |
4,151,228 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02039:Pitpnm1
|
APN |
19 |
4,155,032 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02122:Pitpnm1
|
APN |
19 |
4,157,796 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02279:Pitpnm1
|
APN |
19 |
4,151,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02316:Pitpnm1
|
APN |
19 |
4,162,835 (GRCm39) |
missense |
probably benign |
0.16 |
R0926:Pitpnm1
|
UTSW |
19 |
4,162,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Pitpnm1
|
UTSW |
19 |
4,160,831 (GRCm39) |
splice site |
probably null |
|
R1423:Pitpnm1
|
UTSW |
19 |
4,162,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R1592:Pitpnm1
|
UTSW |
19 |
4,156,964 (GRCm39) |
critical splice donor site |
probably null |
|
R1733:Pitpnm1
|
UTSW |
19 |
4,159,960 (GRCm39) |
nonsense |
probably null |
|
R1844:Pitpnm1
|
UTSW |
19 |
4,162,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Pitpnm1
|
UTSW |
19 |
4,162,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1978:Pitpnm1
|
UTSW |
19 |
4,157,973 (GRCm39) |
splice site |
probably null |
|
R2016:Pitpnm1
|
UTSW |
19 |
4,161,873 (GRCm39) |
missense |
probably benign |
0.25 |
R2017:Pitpnm1
|
UTSW |
19 |
4,161,873 (GRCm39) |
missense |
probably benign |
0.25 |
R2019:Pitpnm1
|
UTSW |
19 |
4,163,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R2210:Pitpnm1
|
UTSW |
19 |
4,155,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Pitpnm1
|
UTSW |
19 |
4,160,935 (GRCm39) |
missense |
probably benign |
0.02 |
R3434:Pitpnm1
|
UTSW |
19 |
4,162,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R3439:Pitpnm1
|
UTSW |
19 |
4,162,752 (GRCm39) |
missense |
probably benign |
0.00 |
R4554:Pitpnm1
|
UTSW |
19 |
4,153,085 (GRCm39) |
missense |
probably benign |
0.16 |
R4555:Pitpnm1
|
UTSW |
19 |
4,153,085 (GRCm39) |
missense |
probably benign |
0.16 |
R4557:Pitpnm1
|
UTSW |
19 |
4,153,085 (GRCm39) |
missense |
probably benign |
0.16 |
R4831:Pitpnm1
|
UTSW |
19 |
4,158,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R4874:Pitpnm1
|
UTSW |
19 |
4,162,252 (GRCm39) |
critical splice donor site |
probably null |
|
R5058:Pitpnm1
|
UTSW |
19 |
4,162,758 (GRCm39) |
missense |
probably benign |
0.00 |
R5069:Pitpnm1
|
UTSW |
19 |
4,161,140 (GRCm39) |
missense |
probably benign |
0.44 |
R5249:Pitpnm1
|
UTSW |
19 |
4,158,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Pitpnm1
|
UTSW |
19 |
4,153,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R5385:Pitpnm1
|
UTSW |
19 |
4,153,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R5619:Pitpnm1
|
UTSW |
19 |
4,153,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5650:Pitpnm1
|
UTSW |
19 |
4,153,319 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6267:Pitpnm1
|
UTSW |
19 |
4,160,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R6341:Pitpnm1
|
UTSW |
19 |
4,152,829 (GRCm39) |
nonsense |
probably null |
|
R6608:Pitpnm1
|
UTSW |
19 |
4,160,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R6739:Pitpnm1
|
UTSW |
19 |
4,160,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Pitpnm1
|
UTSW |
19 |
4,156,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7141:Pitpnm1
|
UTSW |
19 |
4,152,787 (GRCm39) |
missense |
probably damaging |
0.97 |
R7751:Pitpnm1
|
UTSW |
19 |
4,153,470 (GRCm39) |
missense |
probably benign |
0.02 |
R8057:Pitpnm1
|
UTSW |
19 |
4,162,145 (GRCm39) |
missense |
probably null |
0.71 |
R8210:Pitpnm1
|
UTSW |
19 |
4,162,878 (GRCm39) |
critical splice donor site |
probably null |
|
R8415:Pitpnm1
|
UTSW |
19 |
4,155,454 (GRCm39) |
missense |
probably benign |
0.37 |
R8462:Pitpnm1
|
UTSW |
19 |
4,155,135 (GRCm39) |
missense |
probably benign |
0.03 |
R8808:Pitpnm1
|
UTSW |
19 |
4,162,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9060:Pitpnm1
|
UTSW |
19 |
4,156,869 (GRCm39) |
missense |
probably damaging |
0.96 |
R9646:Pitpnm1
|
UTSW |
19 |
4,153,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R9766:Pitpnm1
|
UTSW |
19 |
4,158,117 (GRCm39) |
missense |
probably benign |
0.10 |
Z1177:Pitpnm1
|
UTSW |
19 |
4,159,996 (GRCm39) |
missense |
probably null |
1.00 |
Z1177:Pitpnm1
|
UTSW |
19 |
4,155,009 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |