Incidental Mutation 'R1301:Pitpnm1'
ID |
158391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitpnm1
|
Ensembl Gene |
ENSMUSG00000024851 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
Synonyms |
RdgB, DRES9 |
MMRRC Submission |
039367-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1301 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 4160831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025767]
[ENSMUST00000049658]
[ENSMUST00000049658]
[ENSMUST00000100022]
[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 null
Transcript: ENSMUST00000049658
|
SMART Domains |
Protein: ENSMUSP00000054309 Gene: ENSMUSG00000024851
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 null
Transcript: ENSMUST00000049658
|
SMART Domains |
Protein: ENSMUSP00000054309 Gene: ENSMUSG00000024851
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 null
Transcript: ENSMUST00000100022
|
SMART Domains |
Protein: ENSMUSP00000097599 Gene: ENSMUSG00000024851
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 null
Transcript: ENSMUST00000100022
|
SMART Domains |
Protein: ENSMUSP00000097599 Gene: ENSMUSG00000024851
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: ENSMUST00000151957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127056
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.3%
- 20x: 82.6%
|
Validation Efficiency |
96% (67/70) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
A |
4: 144,291,635 (GRCm39) |
I24L |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,187,426 (GRCm39) |
W447R |
possibly damaging |
Het |
Blm |
T |
A |
7: 80,105,165 (GRCm39) |
K103* |
probably null |
Het |
Camta2 |
A |
G |
11: 70,567,230 (GRCm39) |
I675T |
probably benign |
Het |
Catsperz |
G |
A |
19: 6,902,450 (GRCm39) |
R15C |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,510,964 (GRCm39) |
|
probably benign |
Het |
Corin |
C |
A |
5: 72,462,276 (GRCm39) |
E844D |
possibly damaging |
Het |
Cyb5rl |
T |
G |
4: 106,938,104 (GRCm39) |
M127R |
probably damaging |
Het |
Dcdc2a |
A |
T |
13: 25,286,569 (GRCm39) |
N164I |
possibly damaging |
Het |
Dnah6 |
A |
G |
6: 73,185,528 (GRCm39) |
|
probably null |
Het |
Emilin2 |
T |
C |
17: 71,562,960 (GRCm39) |
|
probably benign |
Het |
Epb41l2 |
T |
A |
10: 25,319,800 (GRCm39) |
V211D |
probably damaging |
Het |
Fbxo47 |
C |
T |
11: 97,759,427 (GRCm39) |
M166I |
probably benign |
Het |
Golm1 |
T |
C |
13: 59,786,187 (GRCm39) |
D335G |
probably damaging |
Het |
Gpn1 |
T |
A |
5: 31,660,773 (GRCm39) |
M188K |
probably damaging |
Het |
Gpr84 |
T |
A |
15: 103,217,646 (GRCm39) |
S144C |
probably damaging |
Het |
Grm8 |
G |
T |
6: 27,981,200 (GRCm39) |
Q237K |
possibly damaging |
Het |
Gsdmd |
C |
A |
15: 75,738,908 (GRCm39) |
|
probably null |
Het |
Hmgcr |
G |
A |
13: 96,795,528 (GRCm39) |
T347I |
probably damaging |
Het |
Hsd17b7 |
T |
A |
1: 169,788,774 (GRCm39) |
|
probably benign |
Het |
Hsd3b9 |
G |
A |
3: 98,354,182 (GRCm39) |
Q106* |
probably null |
Het |
Klhl7 |
T |
G |
5: 24,364,489 (GRCm39) |
W508G |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,258,948 (GRCm39) |
D4581Y |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,840,968 (GRCm39) |
N1357D |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,380,451 (GRCm39) |
|
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,577,692 (GRCm39) |
T329A |
probably damaging |
Het |
Mroh9 |
C |
T |
1: 162,871,552 (GRCm39) |
|
probably null |
Het |
Mta2 |
A |
G |
19: 8,926,550 (GRCm39) |
|
probably benign |
Het |
Myo3a |
A |
T |
2: 22,271,906 (GRCm39) |
|
probably benign |
Het |
Nrip2 |
A |
G |
6: 128,384,352 (GRCm39) |
D153G |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,644,156 (GRCm39) |
|
probably benign |
Het |
Nup210 |
C |
T |
6: 91,019,329 (GRCm39) |
V259M |
possibly damaging |
Het |
Or10ak14 |
C |
T |
4: 118,610,816 (GRCm39) |
M308I |
probably benign |
Het |
Or5b112 |
A |
T |
19: 13,319,211 (GRCm39) |
I30F |
probably benign |
Het |
Or9i14 |
A |
T |
19: 13,792,726 (GRCm39) |
V76D |
probably damaging |
Het |
Otog |
C |
T |
7: 45,939,113 (GRCm39) |
R2048C |
probably damaging |
Het |
Pacc1 |
T |
C |
1: 191,080,632 (GRCm39) |
V284A |
probably damaging |
Het |
Paqr7 |
T |
C |
4: 134,235,124 (GRCm39) |
L327P |
probably damaging |
Het |
Parl |
A |
G |
16: 20,105,676 (GRCm39) |
S249P |
probably damaging |
Het |
Phc1 |
A |
G |
6: 122,302,833 (GRCm39) |
I230T |
probably benign |
Het |
Plpp1 |
A |
G |
13: 112,971,477 (GRCm39) |
Y48C |
probably damaging |
Het |
Pxdc1 |
A |
G |
13: 34,812,870 (GRCm39) |
F194L |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,416,159 (GRCm39) |
V1651D |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,080,943 (GRCm39) |
R47* |
probably null |
Het |
Sis |
T |
C |
3: 72,853,915 (GRCm39) |
T521A |
possibly damaging |
Het |
Slc16a9 |
A |
G |
10: 70,118,308 (GRCm39) |
D209G |
probably benign |
Het |
Slc26a4 |
A |
T |
12: 31,575,567 (GRCm39) |
C706* |
probably null |
Het |
Slc37a2 |
A |
G |
9: 37,148,177 (GRCm39) |
V325A |
probably benign |
Het |
Speg |
T |
A |
1: 75,378,145 (GRCm39) |
D784E |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,827,938 (GRCm39) |
I270V |
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,681,076 (GRCm39) |
F309I |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,089,400 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
A |
7: 63,852,801 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
C |
8: 33,782,714 (GRCm39) |
R496G |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,300,854 (GRCm39) |
V2299A |
probably benign |
Het |
Zfp819 |
T |
A |
7: 43,266,524 (GRCm39) |
S260T |
possibly 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 |
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'- AAGAGTAAGTCAGCCAGCACTGCC -3'
(R):5'- TTCTCAATGACCTGCTCGGGACAC -3'
Sequencing Primer
(F):5'- AGCACTGCCTTGCACTG -3'
(R):5'- CTAGGCTTCCCAGCTTTAGG -3'
|
Posted On |
2014-02-18 |