Incidental Mutation 'R1423:Pitpnm1'
| ID |
161195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm1
|
| Ensembl Gene |
ENSMUSG00000024851 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
| Synonyms |
RdgB, DRES9 |
| MMRRC Submission |
039479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4162392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1074
(R1074H)
|
| 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: R1074H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: R1074H
| 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: R1074H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: R1074H
| 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: ENSMUST00000126620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145915
|
| Meta Mutation Damage Score |
0.4612 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13d |
A |
G |
19: 4,331,097 (GRCm39) |
S64P |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 49,988,896 (GRCm39) |
E691G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,302 (GRCm39) |
S342G |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,944,291 (GRCm39) |
T446I |
probably benign |
Het |
| Bmyc |
A |
G |
2: 25,597,236 (GRCm39) |
D100G |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,751,734 (GRCm39) |
D1010G |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,704,104 (GRCm39) |
T196S |
probably benign |
Het |
| Crtam |
C |
A |
9: 40,884,918 (GRCm39) |
R161L |
probably benign |
Het |
| Cyp11b2 |
C |
A |
15: 74,724,979 (GRCm39) |
G290V |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,617,843 (GRCm39) |
|
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,370,494 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo16 |
T |
C |
14: 65,524,623 (GRCm39) |
|
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,420,298 (GRCm39) |
N173S |
probably damaging |
Het |
| Gm13741 |
A |
T |
2: 87,486,674 (GRCm39) |
I197K |
possibly damaging |
Het |
| Helb |
T |
A |
10: 119,944,871 (GRCm39) |
I222F |
probably damaging |
Het |
| Hesx1 |
A |
T |
14: 26,723,876 (GRCm39) |
Q153L |
probably null |
Het |
| Isca1 |
T |
C |
13: 59,910,593 (GRCm39) |
N33S |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,723,572 (GRCm39) |
V1142A |
probably damaging |
Het |
| Lama5 |
T |
G |
2: 179,837,434 (GRCm39) |
T984P |
probably damaging |
Het |
| Lima1 |
T |
A |
15: 99,717,626 (GRCm39) |
K127* |
probably null |
Het |
| Lmbrd1 |
T |
A |
1: 24,785,959 (GRCm39) |
V418D |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,620,883 (GRCm39) |
V575A |
probably damaging |
Het |
| Mrps28 |
T |
C |
3: 8,965,184 (GRCm39) |
H85R |
probably benign |
Het |
| Mrtfb |
T |
C |
16: 13,230,105 (GRCm39) |
V930A |
possibly damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Naip2 |
TCCC |
TCC |
13: 100,291,355 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,380 (GRCm39) |
S1186F |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,836 (GRCm39) |
L45H |
probably damaging |
Het |
| Or52e5 |
T |
G |
7: 104,719,226 (GRCm39) |
M184R |
probably damaging |
Het |
| Or52u1 |
C |
T |
7: 104,237,682 (GRCm39) |
R224* |
probably null |
Het |
| Or8s16 |
T |
C |
15: 98,211,324 (GRCm39) |
T36A |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,606,975 (GRCm39) |
D69V |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,450,601 (GRCm39) |
N381D |
probably benign |
Het |
| Poc1b |
T |
C |
10: 98,988,725 (GRCm39) |
S247P |
probably damaging |
Het |
| Prl7b1 |
T |
A |
13: 27,786,110 (GRCm39) |
N186I |
probably damaging |
Het |
| Riok1 |
T |
C |
13: 38,233,090 (GRCm39) |
M241T |
probably damaging |
Het |
| Tigit |
T |
C |
16: 43,469,395 (GRCm39) |
E232G |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,488 (GRCm39) |
L9Q |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,757,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,231 (GRCm39) |
N25K |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,039,602 (GRCm39) |
H522L |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,441,093 (GRCm39) |
Y255C |
probably damaging |
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 |
|
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 |
|
|
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'- CCAGCCACGATGTTCAGTTCTACC -3'
Sequencing Primer
(F):5'- TCTATCATGGGCAGCGACC -3'
(R):5'- CAGTTCTACCTGCGTTGAAAAGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation