Incidental Mutation 'R8210:Pitpnm1'
| ID |
636150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm1
|
| Ensembl Gene |
ENSMUSG00000024851 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
| Synonyms |
RdgB, DRES9 |
| MMRRC Submission |
067633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 4162878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054309
(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 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 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
G |
A |
9: 54,517,083 (GRCm39) |
P577S |
probably damaging |
Het |
| Adal |
T |
C |
2: 120,985,236 (GRCm39) |
V269A |
possibly damaging |
Het |
| Adam33 |
T |
C |
2: 130,898,250 (GRCm39) |
T155A |
probably benign |
Het |
| Adgre1 |
A |
T |
17: 57,752,061 (GRCm39) |
E603V |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,441 (GRCm39) |
T301A |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,630,385 (GRCm39) |
A782E |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,811,925 (GRCm39) |
K1197N |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,213,207 (GRCm39) |
D46E |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,161,927 (GRCm39) |
T540A |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,163,009 (GRCm39) |
Y364H |
probably damaging |
Het |
| Bltp1 |
A |
C |
3: 37,067,030 (GRCm39) |
E73A |
|
Het |
| Cd300c2 |
C |
T |
11: 114,891,634 (GRCm39) |
G80D |
possibly damaging |
Het |
| Cebpz |
T |
C |
17: 79,230,685 (GRCm39) |
E844G |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,436 (GRCm39) |
I1199V |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,220,696 (GRCm39) |
N189S |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,924,302 (GRCm39) |
R116I |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,827,858 (GRCm39) |
M735V |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E130208F15Rik |
C |
A |
7: 30,021,619 (GRCm39) |
S93* |
probably null |
Het |
| E330034G19Rik |
T |
C |
14: 24,346,104 (GRCm39) |
I92T |
|
Het |
| Eef1d |
A |
T |
15: 75,768,309 (GRCm39) |
V511D |
probably damaging |
Het |
| Efna1 |
T |
G |
3: 89,183,520 (GRCm39) |
E102A |
probably damaging |
Het |
| H2-M11 |
C |
A |
17: 36,858,860 (GRCm39) |
F133L |
probably damaging |
Het |
| Htr3b |
G |
T |
9: 48,847,343 (GRCm39) |
|
probably null |
Het |
| Kcns3 |
A |
G |
12: 11,142,253 (GRCm39) |
S149P |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,214 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
T |
10: 127,412,354 (GRCm39) |
V1317M |
probably damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,405,174 (GRCm39) |
I799T |
probably damaging |
Het |
| Muc1 |
C |
T |
3: 89,138,906 (GRCm39) |
A505V |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,235,673 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,820,721 (GRCm39) |
D1891G |
probably damaging |
Het |
| Nfe2l3 |
A |
T |
6: 51,428,065 (GRCm39) |
H209L |
probably benign |
Het |
| Nprl2 |
A |
C |
9: 107,421,947 (GRCm39) |
Y241S |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,442 (GRCm39) |
Q368L |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,753 (GRCm39) |
M208K |
possibly damaging |
Het |
| Pcm1 |
C |
T |
8: 41,766,974 (GRCm39) |
R1593C |
probably damaging |
Het |
| Pnoc |
A |
G |
14: 65,642,521 (GRCm39) |
S81P |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,114,393 (GRCm39) |
D585V |
probably damaging |
Het |
| Prpf38b |
A |
T |
3: 108,815,148 (GRCm39) |
|
probably benign |
Het |
| Ranbp3l |
G |
T |
15: 9,065,059 (GRCm39) |
S482I |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,056,364 (GRCm39) |
F651L |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,793,675 (GRCm39) |
T151A |
unknown |
Het |
| Rnf215 |
T |
C |
11: 4,085,544 (GRCm39) |
L91P |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,099,312 (GRCm39) |
H193R |
probably benign |
Het |
| Rps17 |
C |
T |
7: 80,994,750 (GRCm39) |
V4I |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,881,728 (GRCm39) |
F234Y |
possibly damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,736 (GRCm39) |
L92P |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,632,091 (GRCm39) |
I306F |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,692 (GRCm39) |
V538A |
possibly damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,032,566 (GRCm39) |
S193N |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,097,948 (GRCm39) |
S393P |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,105,332 (GRCm39) |
I320K |
possibly damaging |
Het |
| Spata31f1a |
T |
A |
4: 42,848,542 (GRCm39) |
M1205L |
probably benign |
Het |
| Tgfbr1 |
A |
T |
4: 47,406,924 (GRCm39) |
I420F |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,658,482 (GRCm39) |
D589V |
possibly damaging |
Het |
| Trappc8 |
A |
C |
18: 21,006,938 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,791,087 (GRCm39) |
S66P |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,392,220 (GRCm39) |
V2044A |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,741,045 (GRCm39) |
E735G |
probably benign |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,462 (GRCm39) |
N180K |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,302,037 (GRCm39) |
V1853D |
probably damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,394,574 (GRCm39) |
V9A |
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 |
|
|
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 |
|
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'- CTTGGCTCTATGGCTCTACG -3'
(R):5'- CCGAGGCCATGGTAAGATGATC -3'
Sequencing Primer
(F):5'- CTCTATGGCTCTACGGGCTG -3'
(R):5'- CTGTATCTGAGACCTTGAACAGTCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation