Incidental Mutation 'R2334:Clint1'
| ID |
246529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clint1
|
| Ensembl Gene |
ENSMUSG00000006169 |
| Gene Name |
clathrin interactor 1 |
| Synonyms |
C530049I24Rik, Epn4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R2334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
45742797-45801452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45799855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 556
(Q556R)
|
| 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: Q538R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: Q538R
| 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: Q556R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: Q556R
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,255,429 (GRCm39) |
K283R |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,516 (GRCm39) |
F169S |
probably damaging |
Het |
| Cpa5 |
G |
A |
6: 30,624,605 (GRCm39) |
W148* |
probably null |
Het |
| Cryz |
C |
T |
3: 154,327,828 (GRCm39) |
A310V |
probably benign |
Het |
| Dlk1 |
T |
C |
12: 109,419,614 (GRCm39) |
V10A |
probably damaging |
Het |
| Fbxw16 |
T |
G |
9: 109,267,429 (GRCm39) |
L267F |
probably benign |
Het |
| Frmpd1 |
T |
C |
4: 45,285,408 (GRCm39) |
S1410P |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,884,261 (GRCm39) |
I982F |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,256 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
A |
12: 85,314,851 (GRCm39) |
D445V |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,501,825 (GRCm39) |
N129K |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,340,534 (GRCm39) |
E93D |
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,895,608 (GRCm39) |
Y163* |
probably null |
Het |
| Or2ak5 |
A |
T |
11: 58,611,288 (GRCm39) |
Y195* |
probably null |
Het |
| Or5p59 |
C |
T |
7: 107,702,555 (GRCm39) |
T13I |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,229,644 (GRCm39) |
S1005P |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,150 (GRCm39) |
P258S |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,556,138 (GRCm39) |
E21962G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,087,202 (GRCm39) |
D1515G |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,800 (GRCm39) |
N559S |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,662,032 (GRCm39) |
I158K |
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 |
|
IGL01974:Clint1
|
APN |
11 |
45,799,862 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTGACCAGGCCAACATC -3'
(R):5'- CACAGTTCCAGAAGGCATGG -3'
Sequencing Primer
(F):5'- GGCCAACATCCACTGAATATTTG -3'
(R):5'- GGCATGCCCATTCCCATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation