Incidental Mutation 'IGL02312:Clint1'
| ID |
287826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clint1
|
| Ensembl Gene |
ENSMUSG00000006169 |
| Gene Name |
clathrin interactor 1 |
| Synonyms |
C530049I24Rik, Epn4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
IGL02312
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
45742797-45801452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45784883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 294
(T294M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109260]
[ENSMUST00000109261]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109260
AA Change: T294M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: T294M
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
22 |
149 |
2.56e-61 |
SMART |
|
low complexity region
|
262 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109261
AA Change: T294M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: T294M
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
22 |
149 |
2.56e-61 |
SMART |
|
low complexity region
|
262 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133715
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,060,369 (GRCm39) |
V454E |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,484,786 (GRCm39) |
Q1424K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,727,066 (GRCm39) |
D30G |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,445,694 (GRCm39) |
T578I |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,588,797 (GRCm39) |
T1106N |
probably damaging |
Het |
| Csta3 |
A |
G |
16: 36,030,847 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,896,430 (GRCm39) |
Y3598C |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,512,300 (GRCm39) |
T235A |
probably benign |
Het |
| Eif2s1 |
T |
C |
12: 78,926,790 (GRCm39) |
I180T |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,848,601 (GRCm39) |
P108Q |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,085 (GRCm39) |
D3215V |
probably damaging |
Het |
| Galnt17 |
A |
T |
5: 131,335,371 (GRCm39) |
I23N |
probably benign |
Het |
| Gpr20 |
C |
T |
15: 73,568,275 (GRCm39) |
R38Q |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,716,088 (GRCm39) |
D743G |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,476,299 (GRCm39) |
I350V |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,252,510 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
C |
16: 90,272,829 (GRCm39) |
Y302H |
probably damaging |
Het |
| Mybph |
A |
T |
1: 134,125,188 (GRCm39) |
I239F |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,899,120 (GRCm39) |
A821T |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,335,474 (GRCm39) |
I979V |
possibly damaging |
Het |
| Or5w14 |
T |
C |
2: 87,541,353 (GRCm39) |
E299G |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
| Pdilt |
G |
A |
7: 119,118,890 (GRCm39) |
T53M |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,211,505 (GRCm39) |
T263A |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,244,820 (GRCm39) |
M878K |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,010,614 (GRCm39) |
K279R |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,142,052 (GRCm39) |
T1602A |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,335,847 (GRCm39) |
|
probably null |
Het |
| Rnls |
G |
A |
19: 33,145,783 (GRCm39) |
T112I |
probably benign |
Het |
| Ropn1 |
G |
A |
16: 34,497,647 (GRCm39) |
V180I |
probably benign |
Het |
| Rptor |
T |
C |
11: 119,737,741 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Sidt2 |
T |
C |
9: 45,858,299 (GRCm39) |
Y80C |
probably benign |
Het |
| Slit1 |
A |
T |
19: 41,590,119 (GRCm39) |
V1389E |
possibly damaging |
Het |
| Spz1 |
G |
A |
13: 92,712,393 (GRCm39) |
P28S |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,269,458 (GRCm39) |
M257L |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,041 (GRCm39) |
V220I |
probably benign |
Het |
| Tm2d3 |
T |
C |
7: 65,348,917 (GRCm39) |
|
probably null |
Het |
| Uqcr10 |
T |
C |
11: 4,654,153 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Clint1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Clint1
|
APN |
11 |
45,799,846 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01974:Clint1
|
APN |
11 |
45,799,862 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1440:Clint1
|
UTSW |
11 |
45,781,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Clint1
|
UTSW |
11 |
45,778,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1722:Clint1
|
UTSW |
11 |
45,797,233 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1736:Clint1
|
UTSW |
11 |
45,797,004 (GRCm39) |
splice site |
probably null |
|
|
R2012:Clint1
|
UTSW |
11 |
45,784,919 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2334:Clint1
|
UTSW |
11 |
45,799,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5260:Clint1
|
UTSW |
11 |
45,798,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Clint1
|
UTSW |
11 |
45,777,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Clint1
|
UTSW |
11 |
45,785,908 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7343:Clint1
|
UTSW |
11 |
45,774,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Clint1
|
UTSW |
11 |
45,799,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8045:Clint1
|
UTSW |
11 |
45,781,566 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8090:Clint1
|
UTSW |
11 |
45,778,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Clint1
|
UTSW |
11 |
45,781,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Clint1
|
UTSW |
11 |
45,775,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9021:Clint1
|
UTSW |
11 |
45,797,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9034:Clint1
|
UTSW |
11 |
45,799,783 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9034:Clint1
|
UTSW |
11 |
45,799,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9117:Clint1
|
UTSW |
11 |
45,781,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9215:Clint1
|
UTSW |
11 |
45,774,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Clint1
|
UTSW |
11 |
45,742,988 (GRCm39) |
missense |
probably benign |
|
|
R9500:Clint1
|
UTSW |
11 |
45,797,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0005:Clint1
|
UTSW |
11 |
45,797,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation