Incidental Mutation 'IGL01974:Clint1'
| ID |
181684 |
| 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 # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
45742797-45801452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45799862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 558
(N558K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109260]
[ENSMUST00000109261]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109260
AA Change: N540K
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: N540K
| 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 benign
Transcript: ENSMUST00000109261
AA Change: N558K
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: N558K
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,762 (GRCm39) |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,667,001 (GRCm39) |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,394,621 (GRCm39) |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,902,064 (GRCm39) |
Q91R |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,842 (GRCm39) |
Y313C |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,180,777 (GRCm39) |
H147R |
probably benign |
Het |
| Ednrb |
A |
C |
14: 104,058,254 (GRCm39) |
Y350D |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,759,260 (GRCm39) |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,063,020 (GRCm39) |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,603,197 (GRCm39) |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,135,020 (GRCm39) |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 8,950,088 (GRCm39) |
N211S |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,849,842 (GRCm39) |
D454G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,103,471 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,387,596 (GRCm39) |
N423I |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,571,352 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,380,647 (GRCm39) |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,740,583 (GRCm39) |
V30A |
probably benign |
Het |
| Or8k17 |
G |
T |
2: 86,066,304 (GRCm39) |
L292I |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,351,440 (GRCm39) |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,449,255 (GRCm39) |
Y91F |
probably benign |
Het |
| Sertad4 |
C |
A |
1: 192,529,274 (GRCm39) |
E181* |
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,105 (GRCm39) |
C502* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,421 (GRCm39) |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,616,564 (GRCm39) |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,417,642 (GRCm39) |
S500Y |
probably benign |
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 |
|
IGL02312:Clint1
|
APN |
11 |
45,784,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation