Incidental Mutation 'R6264:Cltc'
ID |
506898 |
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 # |
R6264 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86596084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1222
(Y1222C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060766]
[ENSMUST00000103186]
|
AlphaFold |
Q68FD5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060766
AA Change: Y1222C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050220 Gene: ENSMUSG00000047126 AA Change: Y1222C
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: Y1218C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099475 Gene: ENSMUSG00000047126 AA Change: Y1218C
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,264,824 (GRCm39) |
Y175H |
probably damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,598,114 (GRCm39) |
V1165D |
possibly damaging |
Het |
Ahsg |
A |
G |
16: 22,717,611 (GRCm39) |
D224G |
probably benign |
Het |
Akap11 |
T |
C |
14: 78,749,861 (GRCm39) |
D842G |
possibly damaging |
Het |
Anln |
T |
C |
9: 22,245,413 (GRCm39) |
N186D |
possibly damaging |
Het |
Aqr |
A |
G |
2: 113,940,445 (GRCm39) |
Y1234H |
probably damaging |
Het |
Ccdc162 |
A |
G |
10: 41,570,464 (GRCm39) |
F7S |
probably benign |
Het |
Coro2a |
C |
T |
4: 46,562,912 (GRCm39) |
V81I |
probably damaging |
Het |
Cpa5 |
T |
C |
6: 30,613,984 (GRCm39) |
V42A |
probably damaging |
Het |
D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
Ddx6 |
A |
G |
9: 44,540,049 (GRCm39) |
N326D |
probably damaging |
Het |
Dedd2 |
A |
G |
7: 24,903,215 (GRCm39) |
L248P |
possibly damaging |
Het |
Frem3 |
T |
A |
8: 81,341,832 (GRCm39) |
I1375N |
probably damaging |
Het |
Gm12185 |
T |
C |
11: 48,807,002 (GRCm39) |
N63S |
probably benign |
Het |
H2-Aa |
A |
G |
17: 34,502,172 (GRCm39) |
S250P |
probably damaging |
Het |
Hbs1l |
T |
C |
10: 21,243,656 (GRCm39) |
S667P |
possibly damaging |
Het |
Hc |
T |
A |
2: 34,896,285 (GRCm39) |
|
probably null |
Het |
Hoxd4 |
A |
T |
2: 74,557,729 (GRCm39) |
Y36F |
possibly damaging |
Het |
Ifi207 |
A |
G |
1: 173,555,111 (GRCm39) |
V864A |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,235,928 (GRCm39) |
T1418S |
possibly damaging |
Het |
Klhl41 |
T |
C |
2: 69,510,176 (GRCm39) |
|
probably null |
Het |
Lman2l |
T |
C |
1: 36,477,850 (GRCm39) |
N162S |
probably damaging |
Het |
Lrr1 |
T |
G |
12: 69,215,655 (GRCm39) |
V9G |
probably damaging |
Het |
Marchf5 |
T |
C |
19: 37,198,140 (GRCm39) |
I127T |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,163,423 (GRCm39) |
L1350P |
probably damaging |
Het |
Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,636,241 (GRCm39) |
I210N |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,182,836 (GRCm39) |
N825S |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,524,694 (GRCm39) |
T2312A |
probably damaging |
Het |
Ndrg4 |
G |
T |
8: 96,436,396 (GRCm39) |
R208L |
probably damaging |
Het |
Nell2 |
G |
A |
15: 95,244,706 (GRCm39) |
P464S |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 90,299,011 (GRCm39) |
Y374N |
probably damaging |
Het |
Oprd1 |
A |
C |
4: 131,841,365 (GRCm39) |
C198G |
possibly damaging |
Het |
Pik3ca |
T |
C |
3: 32,494,863 (GRCm39) |
|
probably null |
Het |
Plin4 |
T |
G |
17: 56,411,787 (GRCm39) |
D748A |
possibly damaging |
Het |
Pramel23 |
T |
G |
4: 143,425,722 (GRCm39) |
T74P |
possibly damaging |
Het |
Prkg2 |
T |
G |
5: 99,082,223 (GRCm39) |
K52Q |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,442,669 (GRCm39) |
E890D |
probably damaging |
Het |
Rab27b |
T |
C |
18: 70,122,659 (GRCm39) |
D100G |
probably damaging |
Het |
Ranbp6 |
T |
C |
19: 29,790,026 (GRCm39) |
T109A |
probably benign |
Het |
Rarb |
T |
A |
14: 16,818,819 (GRCm38) |
M17L |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,167,293 (GRCm39) |
H260R |
probably damaging |
Het |
Rec8 |
T |
A |
14: 55,856,636 (GRCm39) |
D109E |
probably damaging |
Het |
Scd4 |
C |
A |
19: 44,327,398 (GRCm39) |
S158* |
probably null |
Het |
Scn7a |
T |
A |
2: 66,505,870 (GRCm39) |
E1673V |
possibly damaging |
Het |
Sit1 |
A |
T |
4: 43,482,651 (GRCm39) |
D169E |
possibly damaging |
Het |
Slc16a14 |
G |
T |
1: 84,885,130 (GRCm39) |
Q470K |
probably benign |
Het |
Slc43a2 |
T |
A |
11: 75,457,900 (GRCm39) |
C392S |
possibly damaging |
Het |
Smg1 |
A |
G |
7: 117,765,310 (GRCm39) |
|
probably benign |
Het |
Sstr2 |
A |
T |
11: 113,515,932 (GRCm39) |
I284F |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,082,970 (GRCm39) |
V1013M |
probably damaging |
Het |
Tmem120b |
T |
G |
5: 123,253,763 (GRCm39) |
L232R |
probably damaging |
Het |
Tmem9b |
C |
A |
7: 109,344,612 (GRCm39) |
V75F |
probably damaging |
Het |
Trappc3 |
A |
G |
4: 126,167,731 (GRCm39) |
S97G |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,795,829 (GRCm39) |
F73L |
probably damaging |
Het |
Vmn1r127 |
C |
A |
7: 21,052,930 (GRCm39) |
C286F |
probably benign |
Het |
Vmn1r44 |
T |
C |
6: 89,870,652 (GRCm39) |
S133P |
probably benign |
Het |
Vps8 |
C |
T |
16: 21,378,099 (GRCm39) |
Q635* |
probably null |
Het |
Vwa8 |
A |
G |
14: 79,324,252 (GRCm39) |
E1185G |
possibly damaging |
Het |
Zfp354c |
G |
A |
11: 50,706,274 (GRCm39) |
T267I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCAAGGCGGAACTCTTTC -3'
(R):5'- AACTTCTGGGTGCTGAATTTTACAG -3'
Sequencing Primer
(F):5'- GGAACTCTTTCCCATCTACACAGG -3'
(R):5'- GCATATTCAACTAAACCCATCTGTTC -3'
|
Posted On |
2018-03-15 |