Incidental Mutation 'R9293:Cltc'
| ID |
704412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cltc
|
| Ensembl Gene |
ENSMUSG00000047126 |
| Gene Name |
clathrin heavy chain |
| Synonyms |
CHC |
| MMRRC Submission |
068991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R9293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86603446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 793
(R793S)
|
| 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: R797S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: R797S
| 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 |
possibly damaging
Transcript: ENSMUST00000103186
AA Change: R793S
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: R793S
| 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: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
95% (54/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,839 (GRCm39) |
S343P |
possibly damaging |
Het |
| 4930563M21Rik |
T |
A |
9: 55,916,568 (GRCm39) |
E36D |
unknown |
Het |
| Abcc8 |
T |
G |
7: 45,756,092 (GRCm39) |
K1450T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,361,953 (GRCm39) |
N720Y |
possibly damaging |
Het |
| BC034090 |
T |
C |
1: 155,101,518 (GRCm39) |
T249A |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,021 (GRCm39) |
S388R |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,944,461 (GRCm39) |
Q1437L |
probably damaging |
Het |
| Cdc42ep1 |
A |
C |
15: 78,734,025 (GRCm39) |
D375A |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,174,282 (GRCm39) |
Y487C |
probably damaging |
Het |
| Cfap299 |
C |
T |
5: 98,646,162 (GRCm39) |
A86V |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,244,027 (GRCm39) |
R1346H |
possibly damaging |
Het |
| Crat |
A |
G |
2: 30,298,214 (GRCm39) |
F162L |
probably benign |
Het |
| Cyp3a44 |
C |
A |
5: 145,711,187 (GRCm39) |
V495L |
probably benign |
Het |
| Dchs2 |
C |
T |
3: 83,189,361 (GRCm39) |
T1575I |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,462,994 (GRCm39) |
T1292A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,495,016 (GRCm39) |
A109V |
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,419,297 (GRCm39) |
S546P |
|
Het |
| Hfe |
T |
C |
13: 23,890,792 (GRCm39) |
K204E |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,952,986 (GRCm39) |
Y329N |
probably damaging |
Het |
| Irf9 |
T |
G |
14: 55,846,247 (GRCm39) |
I426S |
probably damaging |
Het |
| Kif26a |
C |
A |
12: 112,112,835 (GRCm39) |
P13T |
probably damaging |
Het |
| Lhx5 |
A |
C |
5: 120,570,451 (GRCm39) |
K36Q |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,707,579 (GRCm39) |
S1623P |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Mybl2 |
G |
A |
2: 162,910,135 (GRCm39) |
G187E |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,099,929 (GRCm39) |
Q613L |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,087,312 (GRCm39) |
M1056K |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,285,955 (GRCm39) |
K298E |
probably damaging |
Het |
| Or4a27 |
G |
A |
2: 88,559,799 (GRCm39) |
T48I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,414 (GRCm39) |
I109V |
probably damaging |
Het |
| Pcdhga12 |
G |
A |
18: 37,900,940 (GRCm39) |
V591M |
probably damaging |
Het |
| Phyhipl |
A |
G |
10: 70,401,116 (GRCm39) |
S161P |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,205 (GRCm39) |
T775A |
probably benign |
Het |
| Pou3f3 |
T |
C |
1: 42,736,682 (GRCm39) |
V126A |
unknown |
Het |
| Reg4 |
A |
C |
3: 98,143,631 (GRCm39) |
K142Q |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,336 (GRCm39) |
D73G |
probably damaging |
Het |
| Sec22c |
G |
T |
9: 121,517,314 (GRCm39) |
A199E |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,603,181 (GRCm39) |
P395S |
probably damaging |
Het |
| Sh2b2 |
C |
T |
5: 136,260,893 (GRCm39) |
E108K |
possibly damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,616 (GRCm39) |
K538E |
possibly damaging |
Het |
| Spatc1l |
A |
T |
10: 76,405,200 (GRCm39) |
D194V |
probably damaging |
Het |
| Stoml3 |
T |
C |
3: 53,408,185 (GRCm39) |
V77A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,930 (GRCm39) |
I230V |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,411,934 (GRCm39) |
T346A |
probably benign |
Het |
| Tmem8b |
C |
T |
4: 43,686,188 (GRCm39) |
T273M |
probably damaging |
Het |
| Trav6-1 |
A |
G |
14: 52,876,299 (GRCm39) |
N73S |
probably benign |
Het |
| Trav6d-5 |
A |
G |
14: 53,033,060 (GRCm39) |
D103G |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,937,806 (GRCm39) |
L379Q |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,803,846 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
A |
C |
2: 69,727,769 (GRCm39) |
D44A |
probably benign |
Het |
| Upp2 |
G |
T |
2: 58,457,443 (GRCm39) |
R5L |
unknown |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,712 (GRCm39) |
T670I |
probably damaging |
Het |
| Zfp433 |
A |
T |
10: 81,556,122 (GRCm39) |
H208L |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
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 |
|
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 |
|
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'- TCCAACCCTTTAGACTACAGTAGC -3'
(R):5'- TCAACACAGAAAGGAGGCTC -3'
Sequencing Primer
(F):5'- ACACTTCACATTCTGGCATGGATG -3'
(R):5'- GGAGGCTCATATTTTAATTCACGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation