Incidental Mutation 'IGL02186:Cltc'
| ID |
283627 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cltc
|
| Ensembl Gene |
ENSMUSG00000047126 |
| Gene Name |
clathrin heavy chain |
| Synonyms |
CHC |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL02186
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86595812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1263
(A1263S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060766]
[ENSMUST00000103186]
|
| AlphaFold |
Q68FD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060766
AA Change: A1263S
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: A1263S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clathrin_propel
|
19 |
56 |
5.3e-10 |
PFAM |
|
Pfam:Clathrin_propel
|
152 |
191 |
1.5e-11 |
PFAM |
|
Pfam:Clathrin_propel
|
202 |
238 |
1.2e-11 |
PFAM |
|
Pfam:Clathrin_propel
|
257 |
292 |
2.2e-8 |
PFAM |
|
Pfam:Clathrin_propel
|
300 |
334 |
8.6e-10 |
PFAM |
|
Pfam:Clathrin-link
|
335 |
358 |
1.7e-17 |
PFAM |
|
Pfam:Clathrin_H_link
|
360 |
425 |
7.1e-35 |
PFAM |
|
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
|
CLH
|
541 |
683 |
1.65e-41 |
SMART |
|
CLH
|
690 |
832 |
1.24e-45 |
SMART |
|
CLH
|
837 |
976 |
6.68e-42 |
SMART |
|
CLH
|
983 |
1128 |
7.21e-47 |
SMART |
|
CLH
|
1132 |
1273 |
7.91e-44 |
SMART |
|
CLH
|
1278 |
1424 |
1.59e-48 |
SMART |
|
CLH
|
1427 |
1586 |
8.36e-43 |
SMART |
|
low complexity region
|
1666 |
1677 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103186
AA Change: A1259S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: A1259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clathrin_propel
|
19 |
56 |
2e-7 |
PFAM |
|
Pfam:Clathrin_propel
|
148 |
187 |
3.8e-9 |
PFAM |
|
Pfam:Clathrin_propel
|
198 |
234 |
3.8e-9 |
PFAM |
|
Pfam:Clathrin-link
|
331 |
354 |
3.5e-17 |
PFAM |
|
Pfam:Clathrin_H_link
|
356 |
421 |
1.9e-35 |
PFAM |
|
low complexity region
|
445 |
458 |
N/A |
INTRINSIC |
|
CLH
|
537 |
679 |
1.65e-41 |
SMART |
|
CLH
|
686 |
828 |
1.24e-45 |
SMART |
|
CLH
|
833 |
972 |
6.68e-42 |
SMART |
|
CLH
|
979 |
1124 |
7.21e-47 |
SMART |
|
CLH
|
1128 |
1269 |
7.91e-44 |
SMART |
|
CLH
|
1274 |
1420 |
1.59e-48 |
SMART |
|
CLH
|
1423 |
1582 |
8.36e-43 |
SMART |
|
low complexity region
|
1662 |
1673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124385
|
| SMART Domains |
Protein: ENSMUSP00000117674
Gene: ENSMUSG00000047126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clathrin
|
1 |
99 |
4.4e-23 |
PFAM |
|
low complexity region
|
203 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134999
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
A |
G |
5: 66,145,811 (GRCm39) |
F100S |
unknown |
Het |
| Abca3 |
A |
G |
17: 24,596,714 (GRCm39) |
Y389C |
possibly damaging |
Het |
| Acrbp |
G |
T |
6: 125,031,773 (GRCm39) |
|
probably null |
Het |
| Adam21 |
G |
A |
12: 81,605,983 (GRCm39) |
T593I |
possibly damaging |
Het |
| Adipor1 |
T |
A |
1: 134,353,698 (GRCm39) |
M161K |
probably benign |
Het |
| Agrp |
A |
T |
8: 106,293,821 (GRCm39) |
N48K |
probably benign |
Het |
| Asprv1 |
A |
T |
6: 86,605,900 (GRCm39) |
M249L |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,278 (GRCm39) |
Y703H |
probably damaging |
Het |
| Bspry |
T |
A |
4: 62,414,226 (GRCm39) |
|
probably benign |
Het |
| Cct8l1 |
T |
G |
5: 25,721,836 (GRCm39) |
S184A |
probably benign |
Het |
| Cdk13 |
C |
T |
13: 17,947,112 (GRCm39) |
V549I |
probably benign |
Het |
| Cdyl2 |
C |
T |
8: 117,306,025 (GRCm39) |
R412Q |
possibly damaging |
Het |
| Celf6 |
T |
C |
9: 59,510,808 (GRCm39) |
S205P |
probably damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,480,939 (GRCm39) |
F62L |
probably damaging |
Het |
| Dlec1 |
T |
A |
9: 118,972,695 (GRCm39) |
C1473S |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,694,986 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
A |
16: 3,856,896 (GRCm39) |
V176I |
probably benign |
Het |
| Dusp1 |
G |
T |
17: 26,726,032 (GRCm39) |
Y220* |
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,667,881 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,649,755 (GRCm39) |
L395P |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,677,693 (GRCm39) |
K533R |
probably damaging |
Het |
| Gcm2 |
T |
A |
13: 41,258,125 (GRCm39) |
T168S |
possibly damaging |
Het |
| Gm9924 |
C |
A |
5: 31,252,491 (GRCm39) |
|
probably benign |
Het |
| Ifrd1 |
A |
G |
12: 40,264,092 (GRCm39) |
V101A |
probably benign |
Het |
| Iqsec1 |
G |
T |
6: 90,653,859 (GRCm39) |
Q629K |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,576,881 (GRCm39) |
M254L |
probably benign |
Het |
| Krit1 |
T |
C |
5: 3,859,733 (GRCm39) |
|
probably benign |
Het |
| Letm1 |
T |
C |
5: 33,902,391 (GRCm39) |
K633E |
probably benign |
Het |
| Mfsd1 |
A |
G |
3: 67,503,928 (GRCm39) |
I307V |
probably benign |
Het |
| Mtrr |
T |
C |
13: 68,712,476 (GRCm39) |
T637A |
probably benign |
Het |
| Naxe |
C |
A |
3: 87,964,305 (GRCm39) |
D212Y |
probably damaging |
Het |
| Nlk |
A |
T |
11: 78,477,762 (GRCm39) |
V327D |
probably damaging |
Het |
| Or2f1b |
A |
G |
6: 42,739,880 (GRCm39) |
K298R |
probably null |
Het |
| Or5w11 |
A |
T |
2: 87,459,715 (GRCm39) |
I187F |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,289,060 (GRCm39) |
G780D |
probably damaging |
Het |
| Prune1 |
T |
C |
3: 95,166,548 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,618,606 (GRCm39) |
H645Q |
probably damaging |
Het |
| Rd3l |
A |
G |
12: 111,945,901 (GRCm39) |
Y193H |
probably benign |
Het |
| Reln |
A |
G |
5: 22,114,956 (GRCm39) |
Y3119H |
probably damaging |
Het |
| Scel |
C |
T |
14: 103,802,257 (GRCm39) |
A219V |
probably benign |
Het |
| Skint11 |
A |
T |
4: 114,101,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc5a5 |
C |
A |
8: 71,338,764 (GRCm39) |
D516Y |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,665,928 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
A |
G |
13: 74,311,233 (GRCm39) |
E576G |
possibly damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,580,271 (GRCm39) |
|
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,209,223 (GRCm39) |
V647A |
probably damaging |
Het |
| Snph |
T |
C |
2: 151,436,263 (GRCm39) |
N222D |
possibly damaging |
Het |
| Srbd1 |
A |
G |
17: 86,416,659 (GRCm39) |
F500L |
probably benign |
Het |
| Stxbp6 |
T |
C |
12: 44,948,806 (GRCm39) |
D101G |
probably damaging |
Het |
| Taar7b |
A |
G |
10: 23,875,879 (GRCm39) |
I15V |
probably benign |
Het |
| Tdrd12 |
G |
T |
7: 35,200,826 (GRCm39) |
N338K |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,495,988 (GRCm39) |
D128E |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 71,992,166 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,724,627 (GRCm39) |
|
probably benign |
Het |
| Uchl1 |
C |
A |
5: 66,834,382 (GRCm39) |
C47* |
probably null |
Het |
| Unc79 |
T |
G |
12: 102,977,542 (GRCm39) |
S182A |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 63,989,138 (GRCm39) |
T26A |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,256,947 (GRCm39) |
V685A |
probably damaging |
Het |
| Zcchc7 |
T |
G |
4: 44,762,250 (GRCm39) |
V126G |
possibly damaging |
Het |
| Zmym2 |
A |
G |
14: 57,180,808 (GRCm39) |
T907A |
probably benign |
Het |
|
| Other mutations in Cltc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Cltc
|
APN |
11 |
86,593,074 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01503:Cltc
|
APN |
11 |
86,586,526 (GRCm39) |
splice site |
probably benign |
|
|
IGL01649:Cltc
|
APN |
11 |
86,617,226 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01896:Cltc
|
APN |
11 |
86,615,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Cltc
|
APN |
11 |
86,621,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02125:Cltc
|
APN |
11 |
86,595,636 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02166:Cltc
|
APN |
11 |
86,594,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02186:Cltc
|
APN |
11 |
86,595,811 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02214:Cltc
|
APN |
11 |
86,623,412 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02227:Cltc
|
APN |
11 |
86,588,166 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02471:Cltc
|
APN |
11 |
86,608,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02607:Cltc
|
APN |
11 |
86,597,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02888:Cltc
|
APN |
11 |
86,648,123 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03226:Cltc
|
APN |
11 |
86,611,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03337:Cltc
|
APN |
11 |
86,594,509 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Buckey
|
UTSW |
11 |
86,611,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
fuller
|
UTSW |
11 |
86,594,986 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Geodesic
|
UTSW |
11 |
86,624,456 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0468:Cltc
|
UTSW |
11 |
86,595,452 (GRCm39) |
unclassified |
probably benign |
|
|
R0487:Cltc
|
UTSW |
11 |
86,624,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0515:Cltc
|
UTSW |
11 |
86,599,865 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0631:Cltc
|
UTSW |
11 |
86,603,439 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0759:Cltc
|
UTSW |
11 |
86,627,908 (GRCm39) |
missense |
probably null |
0.91 |
|
R1635:Cltc
|
UTSW |
11 |
86,648,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1671:Cltc
|
UTSW |
11 |
86,623,421 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1695:Cltc
|
UTSW |
11 |
86,591,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1737:Cltc
|
UTSW |
11 |
86,624,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Cltc
|
UTSW |
11 |
86,597,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Cltc
|
UTSW |
11 |
86,603,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Cltc
|
UTSW |
11 |
86,624,448 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3031:Cltc
|
UTSW |
11 |
86,621,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Cltc
|
UTSW |
11 |
86,648,087 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4022:Cltc
|
UTSW |
11 |
86,611,174 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4394:Cltc
|
UTSW |
11 |
86,624,456 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4654:Cltc
|
UTSW |
11 |
86,617,196 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4807:Cltc
|
UTSW |
11 |
86,591,902 (GRCm39) |
intron |
probably benign |
|
|
R4837:Cltc
|
UTSW |
11 |
86,586,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4965:Cltc
|
UTSW |
11 |
86,598,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5072:Cltc
|
UTSW |
11 |
86,608,794 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5113:Cltc
|
UTSW |
11 |
86,613,147 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5126:Cltc
|
UTSW |
11 |
86,603,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Cltc
|
UTSW |
11 |
86,595,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5609:Cltc
|
UTSW |
11 |
86,621,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5610:Cltc
|
UTSW |
11 |
86,612,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5677:Cltc
|
UTSW |
11 |
86,596,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Cltc
|
UTSW |
11 |
86,594,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6197:Cltc
|
UTSW |
11 |
86,611,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6198:Cltc
|
UTSW |
11 |
86,611,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6264:Cltc
|
UTSW |
11 |
86,596,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Cltc
|
UTSW |
11 |
86,616,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6818:Cltc
|
UTSW |
11 |
86,595,054 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6894:Cltc
|
UTSW |
11 |
86,603,428 (GRCm39) |
nonsense |
probably null |
|
|
R7196:Cltc
|
UTSW |
11 |
86,597,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Cltc
|
UTSW |
11 |
86,616,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7621:Cltc
|
UTSW |
11 |
86,598,312 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7637:Cltc
|
UTSW |
11 |
86,621,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Cltc
|
UTSW |
11 |
86,612,474 (GRCm39) |
missense |
probably benign |
|
|
R7769:Cltc
|
UTSW |
11 |
86,610,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Cltc
|
UTSW |
11 |
86,615,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Cltc
|
UTSW |
11 |
86,627,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7945:Cltc
|
UTSW |
11 |
86,627,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8040:Cltc
|
UTSW |
11 |
86,616,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8105:Cltc
|
UTSW |
11 |
86,598,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8203:Cltc
|
UTSW |
11 |
86,594,986 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8297:Cltc
|
UTSW |
11 |
86,603,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Cltc
|
UTSW |
11 |
86,616,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8419:Cltc
|
UTSW |
11 |
86,598,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8673:Cltc
|
UTSW |
11 |
86,648,201 (GRCm39) |
start gained |
probably benign |
|
|
R8940:Cltc
|
UTSW |
11 |
86,621,072 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8958:Cltc
|
UTSW |
11 |
86,586,403 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9182:Cltc
|
UTSW |
11 |
86,595,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Cltc
|
UTSW |
11 |
86,627,992 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9293:Cltc
|
UTSW |
11 |
86,603,446 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9456:Cltc
|
UTSW |
11 |
86,593,237 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9559:Cltc
|
UTSW |
11 |
86,613,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Cltc
|
UTSW |
11 |
86,593,237 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9578:Cltc
|
UTSW |
11 |
86,593,237 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1176:Cltc
|
UTSW |
11 |
86,593,458 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2015-04-16 |
Incidental Mutation