Incidental Mutation 'R0926:Pitpnm1'
ID |
83228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitpnm1
|
Ensembl Gene |
ENSMUSG00000024851 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
Synonyms |
RdgB, DRES9 |
MMRRC Submission |
039073-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0926 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4162338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1056
(D1056G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025767]
[ENSMUST00000049658]
[ENSMUST00000100022]
[ENSMUST00000117831]
[ENSMUST00000121402]
|
AlphaFold |
O35954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025767
|
SMART Domains |
Protein: ENSMUSP00000025767 Gene: ENSMUSG00000024847
Domain | Start | End | E-Value | Type |
Pfam:FKBP_C
|
26 |
155 |
5.3e-11 |
PFAM |
PDB:4APO|B
|
166 |
330 |
1e-113 |
PDB |
SCOP:d1ihga1
|
170 |
322 |
1e-14 |
SMART |
Blast:TPR
|
231 |
264 |
3e-7 |
BLAST |
Blast:TPR
|
265 |
298 |
7e-7 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049658
AA Change: D1056G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054309 Gene: ENSMUSG00000024851 AA Change: D1056G
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 damaging
Transcript: ENSMUST00000100022
AA Change: D1056G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097599 Gene: ENSMUSG00000024851 AA Change: D1056G
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: ENSMUST00000117831
|
SMART Domains |
Protein: ENSMUSP00000113807 Gene: ENSMUSG00000024847
Domain | Start | End | E-Value | Type |
Pfam:FKBP_C
|
26 |
155 |
1e-10 |
PFAM |
PDB:4APO|B
|
166 |
330 |
1e-113 |
PDB |
SCOP:d1ihga1
|
170 |
322 |
1e-14 |
SMART |
Blast:TPR
|
231 |
264 |
3e-7 |
BLAST |
Blast:TPR
|
265 |
298 |
7e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121402
|
SMART Domains |
Protein: ENSMUSP00000114096 Gene: ENSMUSG00000024847
Domain | Start | End | E-Value | Type |
Pfam:FKBP_C
|
26 |
155 |
1.5e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125596
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126620
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145214
|
Meta Mutation Damage Score |
0.7543 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,164,832 (GRCm39) |
D514G |
probably damaging |
Het |
Acbd7 |
A |
T |
2: 3,341,478 (GRCm39) |
I41F |
possibly damaging |
Het |
Actr8 |
G |
T |
14: 29,709,181 (GRCm39) |
V262L |
probably benign |
Het |
Anp32e |
A |
G |
3: 95,844,454 (GRCm39) |
D108G |
probably damaging |
Het |
Banp |
G |
A |
8: 122,747,294 (GRCm39) |
G448S |
probably benign |
Het |
Camsap3 |
G |
A |
8: 3,637,960 (GRCm39) |
|
probably null |
Het |
Cd22 |
C |
A |
7: 30,568,934 (GRCm39) |
|
probably null |
Het |
Cfap58 |
A |
T |
19: 47,951,001 (GRCm39) |
Q454L |
probably damaging |
Het |
Cntn4 |
C |
T |
6: 106,632,542 (GRCm39) |
T522I |
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,883,829 (GRCm39) |
D233N |
unknown |
Het |
Csmd1 |
G |
T |
8: 16,083,590 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,830,210 (GRCm39) |
P38Q |
probably damaging |
Het |
Dnal4 |
T |
C |
15: 79,646,226 (GRCm39) |
T93A |
probably benign |
Het |
Dsp |
A |
T |
13: 38,367,194 (GRCm39) |
D614V |
probably damaging |
Het |
Fcgr1 |
A |
T |
3: 96,199,682 (GRCm39) |
I75N |
possibly damaging |
Het |
Fgd6 |
T |
A |
10: 93,970,909 (GRCm39) |
Y1229N |
probably benign |
Het |
Fhip2a |
G |
A |
19: 57,369,522 (GRCm39) |
A383T |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,268,497 (GRCm39) |
L214R |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,602,337 (GRCm39) |
D603E |
probably damaging |
Het |
H2-M9 |
A |
G |
17: 36,952,665 (GRCm39) |
V127A |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,782,296 (GRCm39) |
S1328T |
possibly damaging |
Het |
Ica1l |
T |
C |
1: 60,045,456 (GRCm39) |
N269S |
probably benign |
Het |
Il18r1 |
T |
C |
1: 40,526,188 (GRCm39) |
Y245H |
probably damaging |
Het |
Il6ra |
A |
T |
3: 89,794,376 (GRCm39) |
V195E |
probably damaging |
Het |
Inpp5j |
A |
G |
11: 3,451,439 (GRCm39) |
|
probably benign |
Het |
Isy1 |
T |
C |
6: 87,796,125 (GRCm39) |
T271A |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,155,993 (GRCm39) |
Y254C |
probably damaging |
Het |
Ly6e |
T |
G |
15: 74,830,219 (GRCm39) |
S73A |
probably damaging |
Het |
Mcmdc2 |
T |
A |
1: 9,990,801 (GRCm39) |
L326* |
probably null |
Het |
Muc4 |
G |
A |
16: 32,576,570 (GRCm39) |
|
probably benign |
Het |
Myh3 |
A |
G |
11: 66,981,340 (GRCm39) |
|
probably null |
Het |
Ndor1 |
G |
A |
2: 25,138,360 (GRCm39) |
H409Y |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,965,234 (GRCm39) |
D1606G |
probably damaging |
Het |
Or2t44 |
A |
G |
11: 58,677,935 (GRCm39) |
N292D |
probably damaging |
Het |
Or3a1d |
G |
A |
11: 74,238,132 (GRCm39) |
R93C |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,892 (GRCm39) |
Y60H |
probably damaging |
Het |
Or51f1e |
T |
C |
7: 102,747,092 (GRCm39) |
L48P |
probably damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,554 (GRCm39) |
D68V |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,848,051 (GRCm39) |
I73T |
possibly damaging |
Het |
Or5l13 |
A |
T |
2: 87,780,266 (GRCm39) |
F104I |
probably damaging |
Het |
Paox |
C |
A |
7: 139,713,951 (GRCm39) |
T237K |
probably damaging |
Het |
Pcmtd1 |
T |
A |
1: 7,231,243 (GRCm39) |
L4I |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,836,523 (GRCm39) |
T165S |
probably damaging |
Het |
Pik3ap1 |
A |
G |
19: 41,290,964 (GRCm39) |
S523P |
probably benign |
Het |
Pitpnm2 |
G |
A |
5: 124,269,272 (GRCm39) |
T450I |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,058,198 (GRCm39) |
D37G |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,860,531 (GRCm39) |
H221R |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,712,378 (GRCm39) |
I72N |
probably damaging |
Het |
Rhou |
A |
G |
8: 124,387,715 (GRCm39) |
E149G |
probably damaging |
Het |
She |
A |
G |
3: 89,758,901 (GRCm39) |
|
probably benign |
Het |
Slc26a9 |
A |
C |
1: 131,680,954 (GRCm39) |
H121P |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,979,432 (GRCm39) |
D1431G |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,965,407 (GRCm39) |
D1634V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,627,571 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly damaging |
Het |
Zcrb1 |
T |
C |
15: 93,289,409 (GRCm39) |
K51E |
probably damaging |
Het |
Zfp110 |
C |
T |
7: 12,583,808 (GRCm39) |
Q819* |
probably null |
Het |
Zfp616 |
A |
G |
11: 73,976,644 (GRCm39) |
N971S |
probably benign |
Het |
Zfp827 |
A |
T |
8: 79,844,821 (GRCm39) |
T664S |
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 |
IGL02434:Pitpnm1
|
APN |
19 |
4,153,377 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGTGTCTCTATCATGGGCAG -3'
(R):5'- GGGGCAAGGTTCTAGTCAACACAG -3'
Sequencing Primer
(F):5'- TCTATCATGGGCAGCGACC -3'
(R):5'- GTTCTAGTCAACACAGCTCAGGAG -3'
|
Posted On |
2013-11-08 |