Incidental Mutation 'R4012:Cltc'
ID |
311765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cltc
|
Ensembl Gene |
ENSMUSG00000047126 |
Gene Name |
clathrin heavy chain |
Synonyms |
CHC |
MMRRC Submission |
040949-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R4012 (G1)
|
Quality Score |
162 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86648087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 10
(Q10R)
|
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: Q10R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000050220 Gene: ENSMUSG00000047126 AA Change: Q10R
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: Q10R
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099475 Gene: ENSMUSG00000047126 AA Change: Q10R
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 |
|
Meta Mutation Damage Score |
0.0815 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.0%
|
Validation Efficiency |
100% (79/79) |
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 |
Adnp2 |
G |
T |
18: 80,174,036 (GRCm39) |
F124L |
probably benign |
Het |
Aicda |
A |
G |
6: 122,536,449 (GRCm39) |
K10E |
probably benign |
Het |
Als2 |
A |
G |
1: 59,226,575 (GRCm39) |
C910R |
probably benign |
Het |
Ankrd11 |
T |
A |
8: 123,619,156 (GRCm39) |
K1565N |
probably damaging |
Het |
Apol7b |
T |
C |
15: 77,308,909 (GRCm39) |
D63G |
probably damaging |
Het |
Arhgef4 |
T |
C |
1: 34,764,187 (GRCm39) |
C1148R |
possibly damaging |
Het |
Atg16l1 |
A |
G |
1: 87,694,629 (GRCm39) |
D102G |
probably damaging |
Het |
Babam2 |
T |
C |
5: 32,158,782 (GRCm39) |
V244A |
probably damaging |
Het |
Brd10 |
T |
G |
19: 29,720,990 (GRCm39) |
K622N |
probably damaging |
Het |
Cars1 |
G |
A |
7: 143,113,411 (GRCm39) |
A668V |
possibly damaging |
Het |
Ccdc168 |
T |
C |
1: 44,100,129 (GRCm39) |
D323G |
possibly damaging |
Het |
Ccdc185 |
T |
A |
1: 182,576,453 (GRCm39) |
S79C |
possibly damaging |
Het |
Ccdc88b |
G |
C |
19: 6,826,359 (GRCm39) |
R1119G |
probably damaging |
Het |
Cebpz |
A |
T |
17: 79,231,896 (GRCm39) |
V810E |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,871,654 (GRCm39) |
T73A |
probably damaging |
Het |
Chat |
C |
A |
14: 32,145,269 (GRCm39) |
C380F |
possibly damaging |
Het |
Cripto |
C |
T |
9: 110,769,781 (GRCm39) |
M169I |
probably benign |
Het |
Cst8 |
T |
C |
2: 148,646,622 (GRCm39) |
|
probably benign |
Het |
Cts3 |
C |
T |
13: 61,715,868 (GRCm39) |
|
probably null |
Het |
Cyp4a29 |
T |
A |
4: 115,105,707 (GRCm39) |
D136E |
probably benign |
Het |
Dmxl2 |
A |
C |
9: 54,286,297 (GRCm39) |
|
probably null |
Het |
Dsg4 |
T |
A |
18: 20,584,919 (GRCm39) |
V211E |
possibly damaging |
Het |
Efcab5 |
C |
T |
11: 77,008,656 (GRCm39) |
V957I |
probably damaging |
Het |
Eif4g2 |
A |
T |
7: 110,673,358 (GRCm39) |
L807Q |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,366,731 (GRCm39) |
|
probably benign |
Het |
Epm2aip1 |
A |
T |
9: 111,101,458 (GRCm39) |
I144F |
probably benign |
Het |
Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam170a |
C |
T |
18: 50,415,038 (GRCm39) |
A228V |
probably damaging |
Het |
Foxred1 |
A |
T |
9: 35,117,571 (GRCm39) |
M254K |
possibly damaging |
Het |
Gm1527 |
T |
A |
3: 28,952,969 (GRCm39) |
C90S |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,947 (GRCm39) |
T370A |
probably benign |
Het |
Gtf2e2 |
A |
G |
8: 34,245,993 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
A |
T |
8: 26,445,817 (GRCm39) |
L359* |
probably null |
Het |
Hhip |
A |
T |
8: 80,719,223 (GRCm39) |
C435S |
probably damaging |
Het |
Hoxa13 |
T |
C |
6: 52,236,107 (GRCm39) |
D310G |
possibly damaging |
Het |
Hspa14 |
T |
C |
2: 3,513,675 (GRCm39) |
Y18C |
probably damaging |
Het |
Ighg1 |
A |
G |
12: 113,293,270 (GRCm39) |
V140A |
probably damaging |
Het |
Ighv1-58 |
A |
T |
12: 115,275,930 (GRCm39) |
Y69* |
probably null |
Het |
Inpp5j |
A |
G |
11: 3,450,185 (GRCm39) |
F615L |
probably benign |
Het |
Kcna1 |
T |
A |
6: 126,619,873 (GRCm39) |
Y149F |
probably benign |
Het |
Kcnj6 |
A |
T |
16: 94,625,877 (GRCm39) |
|
probably null |
Het |
Krtap4-1 |
G |
T |
11: 99,518,637 (GRCm39) |
C124* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,119,368 (GRCm39) |
L2615* |
probably null |
Het |
Lcp2 |
A |
T |
11: 34,018,439 (GRCm39) |
I72F |
probably damaging |
Het |
Med1 |
T |
A |
11: 98,062,532 (GRCm39) |
I189F |
possibly damaging |
Het |
Meioc |
C |
T |
11: 102,566,654 (GRCm39) |
R757C |
probably damaging |
Het |
Mtr |
T |
A |
13: 12,204,283 (GRCm39) |
H1171L |
probably damaging |
Het |
Mtr |
G |
C |
13: 12,204,284 (GRCm39) |
H1171D |
probably damaging |
Het |
Naa12 |
A |
G |
18: 80,255,339 (GRCm39) |
D211G |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,202,620 (GRCm39) |
Y240C |
possibly damaging |
Het |
Nsun4 |
T |
A |
4: 115,908,259 (GRCm39) |
H767L |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,064,189 (GRCm39) |
N284K |
probably benign |
Het |
Pcdhgb8 |
A |
C |
18: 37,896,414 (GRCm39) |
S495R |
probably benign |
Het |
Pramel1 |
T |
A |
4: 143,123,260 (GRCm39) |
I79N |
possibly damaging |
Het |
Prdm6 |
A |
T |
18: 53,673,390 (GRCm39) |
E183D |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,254,740 (GRCm39) |
F1125L |
probably benign |
Het |
Prkg2 |
T |
C |
5: 99,127,674 (GRCm39) |
I346V |
possibly damaging |
Het |
Ptprz1 |
A |
G |
6: 23,002,584 (GRCm39) |
D1558G |
probably damaging |
Het |
Pttg1ip2 |
A |
C |
5: 5,528,955 (GRCm39) |
L20R |
probably damaging |
Het |
Qng1 |
T |
A |
13: 58,529,800 (GRCm39) |
K271* |
probably null |
Het |
Rab11fip3 |
GCTCGTCT |
GCT |
17: 26,287,002 (GRCm39) |
|
probably null |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
S100a6 |
A |
G |
3: 90,521,508 (GRCm39) |
D50G |
probably damaging |
Het |
Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
Sipa1l1 |
G |
A |
12: 82,388,556 (GRCm39) |
V261M |
possibly damaging |
Het |
Slc5a4b |
T |
A |
10: 75,910,826 (GRCm39) |
I337F |
probably damaging |
Het |
Smarcc1 |
A |
G |
9: 109,961,273 (GRCm39) |
Y30C |
possibly damaging |
Het |
Swap70 |
A |
G |
7: 109,880,512 (GRCm39) |
K576E |
possibly damaging |
Het |
Syt6 |
A |
G |
3: 103,532,809 (GRCm39) |
|
probably benign |
Het |
Szt2 |
T |
C |
4: 118,241,097 (GRCm39) |
I1726V |
probably benign |
Het |
Thoc1 |
A |
G |
18: 9,987,651 (GRCm39) |
K453E |
possibly damaging |
Het |
Tmem38b |
A |
G |
4: 53,854,409 (GRCm39) |
I214V |
probably benign |
Het |
Tonsl |
A |
T |
15: 76,521,244 (GRCm39) |
I354N |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,903,472 (GRCm39) |
I303V |
possibly damaging |
Het |
Trim66 |
A |
G |
7: 109,057,338 (GRCm39) |
S1032P |
probably damaging |
Het |
Tsc22d4 |
T |
C |
5: 137,756,590 (GRCm39) |
V6A |
probably benign |
Het |
Ubtd2 |
A |
G |
11: 32,449,260 (GRCm39) |
K36E |
probably benign |
Het |
Zkscan2 |
T |
C |
7: 123,097,883 (GRCm39) |
E171G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCTTGCAATCCAGGAAGCAG -3'
(R):5'- GTCTGTGGAAGGCTACATAAGG -3'
Sequencing Primer
(F):5'- TCTTGCAATCCAGGAAGCAGAATAAG -3'
(R):5'- AGTTCTGCCTCGGGATCC -3'
|
Posted On |
2015-04-29 |