Incidental Mutation 'R9576:Cltc'
ID |
722305 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cltc
|
Ensembl Gene |
ENSMUSG00000047126 |
Gene Name |
clathrin heavy chain |
Synonyms |
CHC |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R9576 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86593237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 1542
(S1542F)
|
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: S1546F
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000050220 Gene: ENSMUSG00000047126 AA Change: S1546F
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: S1542F
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099475 Gene: ENSMUSG00000047126 AA Change: S1542F
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 |
|
SMART Domains |
Protein: ENSMUSP00000117674 Gene: ENSMUSG00000047126 AA Change: S75F
Domain | Start | End | E-Value | Type |
Pfam:Clathrin
|
1 |
99 |
4.4e-23 |
PFAM |
low complexity region
|
203 |
214 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
A |
15: 81,947,843 (GRCm39) |
I580N |
probably benign |
Het |
Aars1 |
T |
A |
8: 111,768,296 (GRCm39) |
Y222* |
probably null |
Het |
Abi2 |
G |
T |
1: 60,449,008 (GRCm39) |
R16L |
possibly damaging |
Het |
Adam9 |
C |
A |
8: 25,445,953 (GRCm39) |
V814F |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,691,608 (GRCm39) |
T1660A |
probably benign |
Het |
Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,253,207 (GRCm39) |
Y211* |
probably null |
Het |
Ascc3 |
T |
C |
10: 50,494,254 (GRCm39) |
Y230H |
possibly damaging |
Het |
Btg4 |
C |
A |
9: 51,030,436 (GRCm39) |
Q179K |
probably damaging |
Het |
Ccdc150 |
G |
T |
1: 54,407,544 (GRCm39) |
E1107* |
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
Cd200r4 |
A |
G |
16: 44,658,338 (GRCm39) |
T241A |
|
Het |
Chd9 |
T |
A |
8: 91,659,294 (GRCm39) |
S85T |
unknown |
Het |
Col6a4 |
C |
A |
9: 105,945,271 (GRCm39) |
A948S |
probably benign |
Het |
Crygb |
T |
C |
1: 65,119,686 (GRCm39) |
D98G |
probably benign |
Het |
Ctbp2 |
A |
T |
7: 132,616,198 (GRCm39) |
S246T |
probably benign |
Het |
Dcp1b |
T |
A |
6: 119,196,993 (GRCm39) |
Y563* |
probably null |
Het |
Ddx59 |
T |
A |
1: 136,344,681 (GRCm39) |
Y117* |
probably null |
Het |
Dhx30 |
A |
G |
9: 109,916,712 (GRCm39) |
L601P |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,272,286 (GRCm39) |
T1030M |
probably benign |
Het |
Dpp10 |
A |
G |
1: 123,269,409 (GRCm39) |
S667P |
probably damaging |
Het |
Epha7 |
G |
A |
4: 28,870,659 (GRCm39) |
C312Y |
probably damaging |
Het |
Gbf1 |
A |
T |
19: 46,248,122 (GRCm39) |
T300S |
probably benign |
Het |
Glp2r |
T |
C |
11: 67,655,622 (GRCm39) |
K40R |
probably benign |
Het |
H2-Q5 |
G |
A |
17: 35,613,413 (GRCm39) |
V49M |
|
Het |
Havcr1 |
T |
A |
11: 46,669,391 (GRCm39) |
V290E |
probably benign |
Het |
Hc |
T |
A |
2: 34,873,767 (GRCm39) |
T1656S |
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,021,938 (GRCm39) |
I999N |
probably benign |
Het |
Hoxc4 |
A |
T |
15: 102,944,384 (GRCm39) |
E254V |
probably benign |
Het |
Il5ra |
T |
C |
6: 106,712,688 (GRCm39) |
N275S |
probably damaging |
Het |
Itfg2 |
C |
A |
6: 128,389,950 (GRCm39) |
A272S |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,212,505 (GRCm39) |
I1537N |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,621,988 (GRCm39) |
E296G |
probably damaging |
Het |
Jchain |
T |
G |
5: 88,673,976 (GRCm39) |
E56A |
probably damaging |
Het |
Kcnh5 |
A |
T |
12: 74,944,307 (GRCm39) |
S981T |
probably benign |
Het |
Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
Klk1b4 |
A |
T |
7: 43,860,477 (GRCm39) |
D165V |
probably benign |
Het |
Krt1c |
T |
A |
15: 101,719,792 (GRCm39) |
Y626F |
unknown |
Het |
Lrrk2 |
T |
A |
15: 91,636,388 (GRCm39) |
L1454* |
probably null |
Het |
Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,709,827 (GRCm39) |
I607N |
probably damaging |
Het |
Nefh |
C |
T |
11: 4,891,222 (GRCm39) |
E466K |
possibly damaging |
Het |
Nudc |
T |
C |
4: 133,262,989 (GRCm39) |
E118G |
probably benign |
Het |
Or2aj6 |
A |
T |
16: 19,442,961 (GRCm39) |
D296E |
probably damaging |
Het |
Or56a3 |
T |
C |
7: 104,735,760 (GRCm39) |
L279S |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Per1 |
T |
A |
11: 68,998,855 (GRCm39) |
M1142K |
probably damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Plec |
C |
A |
15: 76,115,377 (GRCm39) |
A66S |
probably benign |
Het |
Plekha7 |
T |
C |
7: 115,728,669 (GRCm39) |
Y1199C |
possibly damaging |
Het |
Pou2f2 |
C |
A |
7: 24,796,569 (GRCm39) |
A302S |
probably benign |
Het |
Prkag3 |
A |
T |
1: 74,787,082 (GRCm39) |
W59R |
|
Het |
Rin3 |
T |
A |
12: 102,335,589 (GRCm39) |
L420* |
probably null |
Het |
Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
Serpina3i |
A |
G |
12: 104,234,730 (GRCm39) |
T354A |
probably benign |
Het |
Skap1 |
T |
C |
11: 96,472,030 (GRCm39) |
F101S |
probably benign |
Het |
Slc16a8 |
T |
A |
15: 79,136,182 (GRCm39) |
Q340L |
probably damaging |
Het |
Slc2a12 |
A |
T |
10: 22,578,004 (GRCm39) |
Q600L |
possibly damaging |
Het |
Slc39a14 |
T |
G |
14: 70,556,235 (GRCm39) |
D47A |
probably benign |
Het |
Slfn9 |
T |
A |
11: 82,878,211 (GRCm39) |
Y306F |
possibly damaging |
Het |
Sos1 |
T |
C |
17: 80,742,367 (GRCm39) |
M387V |
probably benign |
Het |
Srl |
A |
T |
16: 4,301,031 (GRCm39) |
L680Q |
probably damaging |
Het |
Tas1r3 |
C |
T |
4: 155,946,822 (GRCm39) |
R261H |
probably benign |
Het |
Tm7sf3 |
C |
A |
6: 146,511,335 (GRCm39) |
G385W |
probably damaging |
Het |
Tmem191 |
C |
T |
16: 17,094,526 (GRCm39) |
R62* |
probably null |
Het |
Triobp |
T |
C |
15: 78,844,266 (GRCm39) |
S161P |
probably damaging |
Het |
Usp13 |
A |
T |
3: 32,969,135 (GRCm39) |
|
probably null |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn1r230 |
C |
A |
17: 21,067,163 (GRCm39) |
C117* |
probably null |
Het |
Vmn2r50 |
T |
C |
7: 9,771,190 (GRCm39) |
Q837R |
probably benign |
Het |
Zfp618 |
T |
C |
4: 63,051,282 (GRCm39) |
S688P |
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 |
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 |
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'- CATGACCTGGATGAAATAGGGC -3'
(R):5'- TGTGCAAGAAAGACAGCCTTTAC -3'
Sequencing Primer
(F):5'- TAGGGCATGGCGAAATCC -3'
(R):5'- CCTTTACAAGGTTGGTAAGCG -3'
|
Posted On |
2022-08-09 |