Incidental Mutation 'R6894:Cltc'
ID |
538244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cltc
|
Ensembl Gene |
ENSMUSG00000047126 |
Gene Name |
clathrin heavy chain |
Synonyms |
CHC |
MMRRC Submission |
044988-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R6894 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 86603428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 799
(Y799*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060766]
[ENSMUST00000103186]
|
AlphaFold |
Q68FD5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000060766
AA Change: Y803*
|
SMART Domains |
Protein: ENSMUSP00000050220 Gene: ENSMUSG00000047126 AA Change: Y803*
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 null
Transcript: ENSMUST00000103186
AA Change: Y799*
|
SMART Domains |
Protein: ENSMUSP00000099475 Gene: ENSMUSG00000047126 AA Change: Y799*
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: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
C |
A |
2: 151,315,227 (GRCm39) |
L150F |
probably damaging |
Het |
4930449I24Rik |
G |
A |
5: 146,441,542 (GRCm39) |
E230K |
possibly damaging |
Het |
4930449I24Rik |
A |
T |
5: 146,441,543 (GRCm39) |
E230V |
probably benign |
Het |
9430038I01Rik |
A |
G |
7: 136,989,117 (GRCm39) |
C93R |
possibly damaging |
Het |
Aoc1l2 |
G |
A |
6: 48,907,596 (GRCm39) |
A199T |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,568,201 (GRCm39) |
|
probably benign |
Het |
Arl4c |
T |
A |
1: 88,629,097 (GRCm39) |
D97V |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,890,298 (GRCm39) |
T726A |
probably benign |
Het |
Asz1 |
A |
C |
6: 18,055,520 (GRCm39) |
F359V |
probably damaging |
Het |
Atr |
T |
A |
9: 95,809,250 (GRCm39) |
L1970H |
probably damaging |
Het |
Baz2a |
G |
T |
10: 127,959,450 (GRCm39) |
A1322S |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,903,569 (GRCm39) |
I37F |
possibly damaging |
Het |
Cd209f |
T |
C |
8: 4,155,477 (GRCm39) |
K37R |
probably benign |
Het |
Cd5 |
G |
C |
19: 10,716,203 (GRCm39) |
S3C |
possibly damaging |
Het |
Clec16a |
A |
T |
16: 10,462,718 (GRCm39) |
I260F |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,216,852 (GRCm39) |
L690P |
probably damaging |
Het |
Csde1 |
G |
A |
3: 102,951,972 (GRCm39) |
V258I |
possibly damaging |
Het |
Dennd5a |
G |
T |
7: 109,500,325 (GRCm39) |
H909Q |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,456,904 (GRCm39) |
D890G |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,375,086 (GRCm39) |
M1379K |
probably benign |
Het |
Dpp10 |
A |
T |
1: 123,264,593 (GRCm39) |
I743N |
probably damaging |
Het |
Dpp9 |
T |
A |
17: 56,495,321 (GRCm39) |
T815S |
probably damaging |
Het |
Ears2 |
T |
C |
7: 121,647,447 (GRCm39) |
N279S |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,045,128 (GRCm39) |
|
probably null |
Het |
Eomes |
C |
G |
9: 118,310,353 (GRCm39) |
P288A |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,909,072 (GRCm39) |
D2310G |
probably damaging |
Het |
Fignl2 |
T |
C |
15: 100,951,854 (GRCm39) |
T143A |
probably benign |
Het |
Gdf9 |
A |
G |
11: 53,327,646 (GRCm39) |
K201E |
possibly damaging |
Het |
Gfra3 |
C |
T |
18: 34,828,710 (GRCm39) |
R228Q |
probably damaging |
Het |
Grin1 |
A |
T |
2: 25,185,829 (GRCm39) |
V876E |
probably damaging |
Het |
Igkv12-41 |
A |
C |
6: 69,835,635 (GRCm39) |
V39G |
probably damaging |
Het |
Kat7 |
A |
T |
11: 95,174,910 (GRCm39) |
M367K |
possibly damaging |
Het |
Ly6d |
T |
C |
15: 74,634,654 (GRCm39) |
K33E |
possibly damaging |
Het |
Lztfl1 |
T |
C |
9: 123,529,998 (GRCm39) |
N273S |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,377,480 (GRCm39) |
I1485F |
possibly damaging |
Het |
Marchf10 |
G |
T |
11: 105,287,787 (GRCm39) |
L172I |
possibly damaging |
Het |
Mdn1 |
T |
G |
4: 32,748,614 (GRCm39) |
S4220A |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,406,872 (GRCm39) |
V8460A |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,282,936 (GRCm39) |
F769L |
probably damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk4 |
A |
G |
13: 32,905,998 (GRCm39) |
L395P |
probably damaging |
Het |
Nat8f6 |
A |
T |
6: 85,785,504 (GRCm39) |
L215* |
probably null |
Het |
Nell2 |
T |
C |
15: 95,244,768 (GRCm39) |
D443G |
probably damaging |
Het |
Nkx6-3 |
A |
G |
8: 23,647,632 (GRCm39) |
K197R |
probably benign |
Het |
Nt5c3 |
A |
T |
6: 56,859,958 (GRCm39) |
L293* |
probably null |
Het |
Ntrk1 |
A |
T |
3: 87,690,109 (GRCm39) |
V429D |
probably damaging |
Het |
Obscn |
A |
G |
11: 59,023,508 (GRCm39) |
V623A |
probably benign |
Het |
Or2o1 |
T |
C |
11: 49,051,186 (GRCm39) |
F115S |
probably benign |
Het |
Or4c1 |
A |
G |
2: 89,133,837 (GRCm39) |
L33S |
probably damaging |
Het |
Or5ac21 |
A |
G |
16: 59,124,142 (GRCm39) |
T209A |
probably damaging |
Het |
Or5p5 |
C |
T |
7: 107,414,271 (GRCm39) |
T160I |
probably benign |
Het |
Or6c74 |
T |
C |
10: 129,870,178 (GRCm39) |
S228P |
probably damaging |
Het |
Or8k22 |
A |
T |
2: 86,163,295 (GRCm39) |
I135N |
probably damaging |
Het |
Pate3 |
T |
A |
9: 35,557,969 (GRCm39) |
D33V |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 82,034,747 (GRCm39) |
I1843N |
probably damaging |
Het |
Pla2g4f |
A |
T |
2: 120,134,077 (GRCm39) |
I503N |
probably benign |
Het |
Prkg1 |
C |
A |
19: 30,602,174 (GRCm39) |
E361* |
probably null |
Het |
Proca1 |
A |
G |
11: 78,085,613 (GRCm39) |
|
probably benign |
Het |
Prss38 |
G |
T |
11: 59,263,850 (GRCm39) |
H287Q |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,744,114 (GRCm39) |
E169G |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,681,440 (GRCm39) |
S65G |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,592,135 (GRCm39) |
H177L |
probably damaging |
Het |
Slc20a2 |
G |
A |
8: 23,050,609 (GRCm39) |
G276D |
possibly damaging |
Het |
Spag6l |
A |
T |
16: 16,601,802 (GRCm39) |
L159I |
probably damaging |
Het |
Spata31f1a |
G |
A |
4: 42,850,291 (GRCm39) |
P622S |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Stk33 |
T |
A |
7: 108,935,269 (GRCm39) |
E174D |
possibly damaging |
Het |
Stxbp5 |
A |
T |
10: 9,660,105 (GRCm39) |
V730E |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,872,702 (GRCm39) |
L168* |
probably null |
Het |
Tnrc18 |
A |
T |
5: 142,745,804 (GRCm39) |
M1323K |
unknown |
Het |
Tpr |
T |
C |
1: 150,312,598 (GRCm39) |
V1932A |
probably benign |
Het |
Trak2 |
A |
G |
1: 58,950,892 (GRCm39) |
S432P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,738,534 (GRCm39) |
F4002I |
probably benign |
Het |
Txndc11 |
G |
A |
16: 10,906,009 (GRCm39) |
T507I |
probably damaging |
Het |
Usp12 |
G |
A |
5: 146,691,349 (GRCm39) |
T135I |
possibly damaging |
Het |
Vit |
T |
A |
17: 78,934,187 (GRCm39) |
Y596* |
probably null |
Het |
Vmn1r32 |
A |
T |
6: 66,530,345 (GRCm39) |
Y144N |
possibly damaging |
Het |
Vmn2r80 |
G |
T |
10: 79,005,438 (GRCm39) |
L358F |
probably benign |
Het |
Zfp382 |
T |
G |
7: 29,825,261 (GRCm39) |
S38A |
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 |
86,595,812 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCACATTCTGGCATGGATG -3'
(R):5'- GAGAAGGACATGCAGCCTTG -3'
Sequencing Primer
(F):5'- CACATTCTGGCATGGATGTAAAATTG -3'
(R):5'- AGAGCTACATTTATGTAAGCCTCTCC -3'
|
Posted On |
2018-11-06 |