Incidental Mutation 'R3850:Picalm'
| ID |
275873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Picalm
|
| Ensembl Gene |
ENSMUSG00000039361 |
| Gene Name |
phosphatidylinositol binding clathrin assembly protein |
| Synonyms |
fit1, fit-1 |
| MMRRC Submission |
040898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R3850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89779418-89858655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89840912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 456
(N456S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049537]
[ENSMUST00000207084]
[ENSMUST00000207225]
[ENSMUST00000207484]
[ENSMUST00000208742]
[ENSMUST00000209068]
[ENSMUST00000208730]
|
| AlphaFold |
Q7M6Y3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049537
AA Change: N572S
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: N572S
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
2.42e-39 |
SMART |
|
coiled coil region
|
317 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207084
AA Change: N456S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207225
AA Change: N522S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207484
AA Change: N577S
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208089
AA Change: N302S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208742
AA Change: N577S
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209068
AA Change: N527S
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208730
AA Change: N522S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208891
|
| Meta Mutation Damage Score |
0.0899 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for different ENU-induced mutations or knock-out alleles are small, runted and display anemia of variable severity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,061,481 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,190,906 (GRCm39) |
S815T |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,490,215 (GRCm39) |
L99Q |
possibly damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,718,377 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
C |
A |
14: 33,789,338 (GRCm39) |
H309Q |
probably benign |
Het |
| Ap1g2 |
T |
C |
14: 55,342,363 (GRCm39) |
M165V |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,344,473 (GRCm39) |
D22G |
possibly damaging |
Het |
| Cdh17 |
A |
G |
4: 11,785,201 (GRCm39) |
D331G |
probably damaging |
Het |
| Csmd1 |
C |
G |
8: 16,129,936 (GRCm39) |
V1729L |
probably benign |
Het |
| Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
| Cwf19l1 |
T |
C |
19: 44,119,937 (GRCm39) |
Y68C |
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,355 (GRCm39) |
Q1658* |
probably null |
Het |
| Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
| Fan1 |
T |
C |
7: 64,022,119 (GRCm39) |
Y378C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,061,410 (GRCm39) |
V4331D |
probably benign |
Het |
| Fbxl8 |
T |
C |
8: 105,993,781 (GRCm39) |
S46P |
probably benign |
Het |
| Golgb1 |
C |
A |
16: 36,719,095 (GRCm39) |
Q334K |
probably benign |
Het |
| Hoxc10 |
T |
C |
15: 102,875,879 (GRCm39) |
V196A |
probably benign |
Het |
| Hsf4 |
T |
C |
8: 105,997,469 (GRCm39) |
F101L |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,290,561 (GRCm39) |
I3340T |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,426 (GRCm39) |
R123H |
probably benign |
Het |
| Mov10l1 |
A |
T |
15: 88,889,898 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,183,729 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
A |
7: 141,416,375 (GRCm39) |
C3107Y |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
| Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,559,471 (GRCm39) |
T214A |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,378 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,310 (GRCm39) |
H56L |
possibly damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,105 (GRCm39) |
Y200F |
probably damaging |
Het |
| Pcdhga10 |
C |
T |
18: 37,882,074 (GRCm39) |
P612S |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,025,084 (GRCm39) |
F5S |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,270,004 (GRCm39) |
F563S |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,424,598 (GRCm39) |
E29G |
probably benign |
Het |
| Pm20d2 |
A |
G |
4: 33,174,414 (GRCm39) |
V403A |
probably damaging |
Het |
| Proz |
A |
G |
8: 13,123,533 (GRCm39) |
E268G |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,337 (GRCm39) |
V1252D |
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,986,903 (GRCm39) |
H41Q |
possibly damaging |
Het |
| Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,299,357 (GRCm39) |
Y910C |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,512,375 (GRCm39) |
L171F |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,361,505 (GRCm39) |
E239G |
probably damaging |
Het |
| Smim33 |
G |
A |
18: 35,861,767 (GRCm39) |
V84I |
probably benign |
Het |
| Snx27 |
G |
T |
3: 94,427,542 (GRCm39) |
T311K |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,469,424 (GRCm39) |
L4459Q |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,396 (GRCm39) |
L5241P |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
| Thap12 |
G |
T |
7: 98,365,870 (GRCm39) |
K679N |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,859 (GRCm39) |
H275L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp229 |
C |
A |
17: 21,964,843 (GRCm39) |
H358N |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,915,225 (GRCm39) |
D1092G |
probably damaging |
Het |
|
| Other mutations in Picalm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01016:Picalm
|
APN |
7 |
89,810,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01147:Picalm
|
APN |
7 |
89,826,800 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02814:Picalm
|
APN |
7 |
89,840,957 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02828:Picalm
|
APN |
7 |
89,826,709 (GRCm39) |
missense |
probably benign |
|
|
IGL02904:Picalm
|
APN |
7 |
89,825,619 (GRCm39) |
splice site |
probably benign |
|
|
IGL02986:Picalm
|
APN |
7 |
89,856,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03001:Picalm
|
APN |
7 |
89,831,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03247:Picalm
|
APN |
7 |
89,843,499 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0024:Picalm
|
UTSW |
7 |
89,779,912 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0085:Picalm
|
UTSW |
7 |
89,831,525 (GRCm39) |
missense |
probably benign |
|
|
R0414:Picalm
|
UTSW |
7 |
89,838,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0537:Picalm
|
UTSW |
7 |
89,779,876 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0855:Picalm
|
UTSW |
7 |
89,840,356 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1269:Picalm
|
UTSW |
7 |
89,814,757 (GRCm39) |
nonsense |
probably null |
|
|
R1496:Picalm
|
UTSW |
7 |
89,779,859 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1635:Picalm
|
UTSW |
7 |
89,840,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Picalm
|
UTSW |
7 |
89,840,390 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1755:Picalm
|
UTSW |
7 |
89,809,757 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2513:Picalm
|
UTSW |
7 |
89,846,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Picalm
|
UTSW |
7 |
89,838,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Picalm
|
UTSW |
7 |
89,819,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Picalm
|
UTSW |
7 |
89,856,803 (GRCm39) |
makesense |
probably null |
|
|
R5517:Picalm
|
UTSW |
7 |
89,819,806 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6012:Picalm
|
UTSW |
7 |
89,844,908 (GRCm39) |
missense |
probably benign |
|
|
R6280:Picalm
|
UTSW |
7 |
89,826,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6739:Picalm
|
UTSW |
7 |
89,825,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Picalm
|
UTSW |
7 |
89,840,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Picalm
|
UTSW |
7 |
89,825,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7877:Picalm
|
UTSW |
7 |
89,779,876 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8081:Picalm
|
UTSW |
7 |
89,840,451 (GRCm39) |
nonsense |
probably null |
|
|
R9335:Picalm
|
UTSW |
7 |
89,825,491 (GRCm39) |
missense |
probably benign |
|
|
R9524:Picalm
|
UTSW |
7 |
89,810,484 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Picalm
|
UTSW |
7 |
89,846,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAACCACTAAGAAGTAAGTGCC -3'
(R):5'- AATGTGCCTGACAAAGACAGTC -3'
Sequencing Primer
(F):5'- TTCAAATGCTATCCTGAAAGTCCC -3'
(R):5'- GTGCCTGACAAAGACAGTCAATCATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation