Incidental Mutation 'R8297:Cltc'
| ID |
639029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cltc
|
| Ensembl Gene |
ENSMUSG00000047126 |
| Gene Name |
clathrin heavy chain |
| Synonyms |
CHC |
| MMRRC Submission |
067853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R8297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86603457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 790
(Y790H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060766]
[ENSMUST00000103186]
|
| AlphaFold |
Q68FD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060766
AA Change: Y794H
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: Y794H
| 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 damaging
Transcript: ENSMUST00000103186
AA Change: Y790H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: Y790H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
T |
C |
10: 21,497,578 (GRCm39) |
L73P |
probably damaging |
Het |
| 4933412E24Rik |
T |
G |
15: 59,887,524 (GRCm39) |
R305S |
probably damaging |
Het |
| Adamts19 |
T |
A |
18: 58,970,920 (GRCm39) |
V168E |
probably damaging |
Het |
| Ankrd34b |
T |
A |
13: 92,576,097 (GRCm39) |
L443Q |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,491,616 (GRCm39) |
Y887H |
probably damaging |
Het |
| Arhgef2 |
A |
T |
3: 88,546,739 (GRCm39) |
H553L |
probably benign |
Het |
| Atxn1 |
G |
T |
13: 45,720,505 (GRCm39) |
N463K |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,932,099 (GRCm39) |
|
probably null |
Het |
| C4bp |
A |
G |
1: 130,564,482 (GRCm39) |
S401P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,697,609 (GRCm39) |
R457W |
probably damaging |
Het |
| Chek2 |
T |
G |
5: 110,996,302 (GRCm39) |
Y127D |
probably damaging |
Het |
| Clec4a1 |
G |
A |
6: 122,898,960 (GRCm39) |
V10M |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,701,028 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,679,929 (GRCm39) |
F122S |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,998,689 (GRCm39) |
L548H |
unknown |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dsg1a |
A |
C |
18: 20,465,090 (GRCm39) |
N427T |
probably benign |
Het |
| Ear14 |
A |
T |
14: 51,441,564 (GRCm39) |
D140V |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,483,547 (GRCm39) |
F154C |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,507,321 (GRCm39) |
V12M |
probably damaging |
Het |
| Fbxo40 |
G |
A |
16: 36,789,670 (GRCm39) |
T480I |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,001,048 (GRCm39) |
Y322N |
probably damaging |
Het |
| Gca |
T |
C |
2: 62,516,700 (GRCm39) |
M132T |
probably benign |
Het |
| Ifi203 |
T |
G |
1: 173,765,496 (GRCm39) |
K26T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,116 (GRCm39) |
R668G |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,638 (GRCm39) |
I1185T |
unknown |
Het |
| Kcnj13 |
A |
T |
1: 87,314,189 (GRCm39) |
N344K |
probably damaging |
Het |
| Kdm5a |
A |
T |
6: 120,358,516 (GRCm39) |
L186F |
probably benign |
Het |
| Klhl8 |
T |
C |
5: 104,010,954 (GRCm39) |
N624D |
probably benign |
Het |
| Klrb1 |
G |
T |
6: 128,689,222 (GRCm39) |
T83K |
possibly damaging |
Het |
| Krt77 |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
15: 101,768,407 (GRCm39) |
|
probably benign |
Het |
| Ltb |
G |
T |
17: 35,413,655 (GRCm39) |
R53L |
probably benign |
Het |
| Mterf3 |
A |
G |
13: 67,055,222 (GRCm39) |
V69A |
|
Het |
| Mvb12a |
A |
G |
8: 71,997,888 (GRCm39) |
K101E |
probably damaging |
Het |
| Nbeal2 |
T |
A |
9: 110,464,409 (GRCm39) |
Q1110L |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,198,775 (GRCm39) |
T389S |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 23,173,069 (GRCm39) |
F11L |
probably damaging |
Het |
| Or10p22 |
T |
C |
10: 128,826,708 (GRCm39) |
L309P |
possibly damaging |
Het |
| Or2a54 |
A |
G |
6: 43,093,440 (GRCm39) |
I255V |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or52e8b |
C |
T |
7: 104,673,885 (GRCm39) |
G97R |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,153,880 (GRCm39) |
Y487N |
possibly damaging |
Het |
| Pde4a |
C |
T |
9: 21,077,404 (GRCm39) |
P61S |
possibly damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
| Prr5l |
A |
G |
2: 101,571,630 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
G |
A |
6: 124,705,614 (GRCm39) |
T179I |
possibly damaging |
Het |
| Ralyl |
T |
C |
3: 14,104,836 (GRCm39) |
S34P |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 73,812,814 (GRCm39) |
C293* |
probably null |
Het |
| Rtn4 |
T |
G |
11: 29,655,536 (GRCm39) |
D169E |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,122,506 (GRCm39) |
V157E |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,034,283 (GRCm39) |
T498A |
probably benign |
Het |
| Tgm6 |
G |
A |
2: 129,979,358 (GRCm39) |
V163I |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,582,302 (GRCm39) |
C187S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,616,485 (GRCm39) |
|
probably null |
Het |
| Tut4 |
G |
A |
4: 108,336,905 (GRCm39) |
A210T |
possibly damaging |
Het |
| Vangl2 |
C |
A |
1: 171,837,513 (GRCm39) |
V99F |
possibly damaging |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,215 (GRCm39) |
C267Y |
probably damaging |
Het |
| Vsig10l |
T |
C |
7: 43,113,531 (GRCm39) |
V161A |
possibly damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,364,244 (GRCm39) |
R232Q |
possibly damaging |
Het |
| Xrcc6 |
C |
G |
15: 81,913,463 (GRCm39) |
F365L |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,465,257 (GRCm39) |
Y389C |
probably damaging |
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 |
86,595,812 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCACATTCTGGCATGGATG -3'
(R):5'- GAGAAGGACATGCAGCCTTG -3'
Sequencing Primer
(F):5'- CACATTCTGGCATGGATGTAAAATTG -3'
(R):5'- AGAGCTACATTTATGTAAGCCTCTCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation