Incidental Mutation 'R6395:Cltc'
| ID |
514737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cltc
|
| Ensembl Gene |
ENSMUSG00000047126 |
| Gene Name |
clathrin heavy chain |
| Synonyms |
CHC |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R6395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86616006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 420
(I420T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060766]
[ENSMUST00000103186]
|
| AlphaFold |
Q68FD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060766
AA Change: I424T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: I424T
| 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: I420T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: I420T
| 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 |
noncoding transcript
Transcript: ENSMUST00000133501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141152
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.3%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
C |
A |
2: 113,879,731 (GRCm39) |
E243* |
probably null |
Het |
| Ahi1 |
T |
C |
10: 20,855,491 (GRCm39) |
I600T |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,058,507 (GRCm39) |
T2330A |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,582,576 (GRCm39) |
M280K |
probably benign |
Het |
| Ccdc117 |
T |
C |
11: 5,484,762 (GRCm39) |
|
probably null |
Het |
| Cct8 |
G |
T |
16: 87,283,364 (GRCm39) |
Y292* |
probably null |
Het |
| Celf1 |
A |
G |
2: 90,834,203 (GRCm39) |
I165V |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,183,429 (GRCm39) |
N453K |
probably benign |
Het |
| Chst10 |
T |
C |
1: 38,910,770 (GRCm39) |
I131M |
probably damaging |
Het |
| Cspg4b |
T |
G |
13: 113,506,003 (GRCm39) |
C2377W |
probably damaging |
Het |
| Dact3 |
A |
C |
7: 16,617,086 (GRCm39) |
Q95P |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,056,540 (GRCm39) |
|
probably null |
Het |
| Dock2 |
G |
T |
11: 34,182,874 (GRCm39) |
H1586Q |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,221,771 (GRCm39) |
M2525T |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,261,176 (GRCm39) |
H786R |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,759,321 (GRCm39) |
T811A |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,343,106 (GRCm39) |
T148A |
probably damaging |
Het |
| Fsip1 |
A |
C |
2: 118,067,406 (GRCm39) |
S306A |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,607,661 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTT |
2: 98,494,152 (GRCm39) |
|
probably benign |
Het |
| Gm9837 |
T |
A |
11: 53,360,885 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
A |
T |
4: 124,940,058 (GRCm39) |
Q310L |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,701 (GRCm39) |
D53G |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,259,269 (GRCm39) |
D1036E |
probably damaging |
Het |
| Htr3a |
A |
T |
9: 48,811,871 (GRCm39) |
D381E |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,042,400 (GRCm39) |
G106R |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,864,078 (GRCm39) |
T114A |
probably damaging |
Het |
| Ints14 |
A |
G |
9: 64,885,406 (GRCm39) |
|
probably null |
Het |
| Kcnt1 |
T |
A |
2: 25,799,251 (GRCm39) |
M906K |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lars2 |
A |
G |
9: 123,200,990 (GRCm39) |
Q18R |
probably benign |
Het |
| Mndal |
C |
T |
1: 173,698,999 (GRCm39) |
C222Y |
possibly damaging |
Het |
| Msto1 |
C |
T |
3: 88,812,781 (GRCm39) |
A1854V |
possibly damaging |
Het |
| Musk |
G |
A |
4: 58,286,169 (GRCm39) |
G20R |
probably benign |
Het |
| Or6c215 |
G |
T |
10: 129,638,013 (GRCm39) |
P127Q |
probably damaging |
Het |
| Oxct1 |
G |
T |
15: 4,056,309 (GRCm39) |
S19I |
possibly damaging |
Het |
| Papss2 |
G |
A |
19: 32,641,876 (GRCm39) |
G517D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,676,918 (GRCm39) |
S1017G |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,242 (GRCm39) |
Q227R |
probably benign |
Het |
| Pdlim5 |
G |
T |
3: 142,020,183 (GRCm39) |
P92Q |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,595 (GRCm39) |
T480I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,583,531 (GRCm39) |
R213G |
possibly damaging |
Het |
| Pramel18 |
G |
A |
4: 101,767,189 (GRCm39) |
R146H |
probably benign |
Het |
| Prrc1 |
C |
T |
18: 57,495,619 (GRCm39) |
S32L |
probably null |
Het |
| Prss47 |
C |
T |
13: 65,197,116 (GRCm39) |
V207I |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,819,414 (GRCm39) |
V1136I |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,418,265 (GRCm39) |
M69K |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,436,636 (GRCm39) |
D876E |
probably damaging |
Het |
| Rnasel |
T |
C |
1: 153,637,867 (GRCm39) |
M680T |
probably damaging |
Het |
| Rnf111 |
G |
T |
9: 70,383,692 (GRCm39) |
N80K |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,946,074 (GRCm39) |
C557Y |
probably damaging |
Het |
| Serpina3a |
A |
T |
12: 104,082,710 (GRCm39) |
Y161F |
probably damaging |
Het |
| Serpinb11 |
A |
T |
1: 107,299,781 (GRCm39) |
|
probably null |
Het |
| Sgpl1 |
C |
A |
10: 60,947,936 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
A |
G |
9: 44,310,576 (GRCm39) |
Y60C |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 120,015,208 (GRCm39) |
S381P |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,585,849 (GRCm39) |
V323I |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,668,818 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
A |
T |
1: 72,655,716 (GRCm39) |
E665V |
possibly damaging |
Het |
| Specc1 |
C |
A |
11: 62,023,164 (GRCm39) |
N736K |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,495 (GRCm39) |
Y159C |
probably benign |
Het |
| Tex54 |
A |
G |
19: 8,718,462 (GRCm39) |
D68G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,196,268 (GRCm39) |
I1431V |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,047,414 (GRCm39) |
V671A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,748,931 (GRCm39) |
|
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,188,389 (GRCm39) |
T557A |
possibly damaging |
Het |
| Uri1 |
C |
A |
7: 37,661,974 (GRCm39) |
V446L |
probably benign |
Het |
| Vpreb1b |
C |
T |
16: 17,798,771 (GRCm39) |
R86C |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,184 (GRCm39) |
K1231E |
probably benign |
Het |
| Xcr1 |
G |
A |
9: 123,684,854 (GRCm39) |
R303C |
probably damaging |
Het |
| Zfp619 |
C |
A |
7: 39,186,454 (GRCm39) |
A828E |
possibly damaging |
Het |
| Zfp687 |
T |
C |
3: 94,915,049 (GRCm39) |
S1151G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGTGTTAAACCGGCAAG -3'
(R):5'- CATGGAGGGTTGTTAGTGCCAC -3'
Sequencing Primer
(F):5'- CAGATGTTGATACTTTGGTAGAAACC -3'
(R):5'- TAGTGCCACTGGGTCACTGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation