Incidental Mutation 'R7507:Clint1'
| ID |
581855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clint1
|
| Ensembl Gene |
ENSMUSG00000006169 |
| Gene Name |
clathrin interactor 1 |
| Synonyms |
C530049I24Rik, Epn4 |
| MMRRC Submission |
045580-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R7507 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
45742797-45801452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45799776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 512
(Q512K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109260]
[ENSMUST00000109261]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109260
AA Change: Q512K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: Q512K
| 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 |
possibly damaging
Transcript: ENSMUST00000109261
AA Change: Q530K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: Q530K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,652,177 (GRCm39) |
T1359S |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,567,091 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
G |
18: 80,174,068 (GRCm39) |
S114P |
probably benign |
Het |
| BC051019 |
T |
A |
7: 109,315,475 (GRCm39) |
D260V |
possibly damaging |
Het |
| Btnl10 |
A |
G |
11: 58,811,384 (GRCm39) |
T236A |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 119,034,200 (GRCm39) |
L109Q |
|
Het |
| Dop1a |
A |
G |
9: 86,418,002 (GRCm39) |
N1957S |
probably benign |
Het |
| Gosr1 |
A |
T |
11: 76,645,240 (GRCm39) |
N101K |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,119,765 (GRCm39) |
T350A |
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,709,011 (GRCm39) |
V182D |
probably damaging |
Het |
| Igkv4-80 |
G |
T |
6: 68,993,677 (GRCm39) |
S71R |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,468,269 (GRCm39) |
F5L |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,852 (GRCm39) |
L648P |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,491,608 (GRCm39) |
L375F |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,855,429 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,274,626 (GRCm39) |
S346P |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,585,810 (GRCm39) |
V682I |
not run |
Het |
| Nos3 |
T |
C |
5: 24,577,642 (GRCm39) |
M552T |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,687,930 (GRCm39) |
N20S |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,713 (GRCm39) |
I126T |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,093,909 (GRCm39) |
R139S |
probably benign |
Het |
| Pik3r1 |
G |
A |
13: 101,845,490 (GRCm39) |
S147L |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,115,754 (GRCm39) |
H701L |
possibly damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,095,791 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,486,970 (GRCm39) |
A521V |
probably benign |
Het |
| Rasgrp3 |
C |
A |
17: 75,804,055 (GRCm39) |
D119E |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,075,557 (GRCm39) |
D342E |
probably damaging |
Het |
| Rnpc3 |
A |
T |
3: 113,410,410 (GRCm39) |
S294T |
probably benign |
Het |
| Sepsecs |
A |
G |
5: 52,801,397 (GRCm39) |
F422L |
probably damaging |
Het |
| Sgcz |
T |
A |
8: 38,420,200 (GRCm39) |
E17D |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,210,107 (GRCm39) |
Y31H |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,958,906 (GRCm39) |
E310G |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,117,733 (GRCm39) |
Y288C |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,668,671 (GRCm39) |
|
probably null |
Het |
| Trim62 |
A |
G |
4: 128,790,664 (GRCm39) |
T154A |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,642 (GRCm39) |
D128G |
probably damaging |
Het |
| Ube3d |
G |
A |
9: 86,304,939 (GRCm39) |
A301V |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,833,012 (GRCm39) |
S444P |
possibly damaging |
Het |
| Vasn |
T |
C |
16: 4,467,345 (GRCm39) |
C431R |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,291 (GRCm39) |
S64P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,808,840 (GRCm39) |
M1007K |
probably damaging |
Het |
| Zfp606 |
C |
A |
7: 12,226,868 (GRCm39) |
Q330K |
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 |
|
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 |
|
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'- TTGGTAGACCCTGACTGTGG -3'
(R):5'- CACAGTTCCAGAAGGCATGG -3'
Sequencing Primer
(F):5'- AGACCCTGACTGTGGACCATTTATTG -3'
(R):5'- TTCCCATGGTGCCCGACAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation