Incidental Mutation 'R9188:Cltc'
| ID |
697539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cltc
|
| Ensembl Gene |
ENSMUSG00000047126 |
| Gene Name |
clathrin heavy chain |
| Synonyms |
CHC |
| MMRRC Submission |
068980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R9188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 86627992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 52
(I52S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060766]
[ENSMUST00000103186]
|
| AlphaFold |
Q68FD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060766
AA Change: I52S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: I52S
| 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: I52S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: I52S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| 1700003E16Rik |
G |
T |
6: 83,139,230 (GRCm39) |
R385L |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,872,561 (GRCm39) |
C13* |
probably null |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,571 (GRCm39) |
R10C |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,390,983 (GRCm39) |
I4V |
possibly damaging |
Het |
| Asic2 |
A |
G |
11: 81,042,738 (GRCm39) |
F185S |
probably benign |
Het |
| Asmt |
G |
A |
X: 169,111,583 (GRCm39) |
E322K |
probably damaging |
Het |
| Caprin2 |
T |
C |
6: 148,767,422 (GRCm39) |
D512G |
probably benign |
Het |
| Cntn2 |
A |
G |
1: 132,443,276 (GRCm39) |
L1040P |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,509,614 (GRCm39) |
T3019A |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,192,990 (GRCm39) |
C242* |
probably null |
Het |
| Crocc |
G |
T |
4: 140,747,151 (GRCm39) |
N1716K |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,439,223 (GRCm39) |
E12G |
possibly damaging |
Het |
| Dnai4 |
T |
C |
4: 102,939,332 (GRCm39) |
T77A |
|
Het |
| Drc3 |
G |
T |
11: 60,249,615 (GRCm39) |
V45F |
probably damaging |
Het |
| Etv4 |
A |
G |
11: 101,666,202 (GRCm39) |
S108P |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,643,017 (GRCm39) |
D31E |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,698,736 (GRCm39) |
D469E |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,523,797 (GRCm39) |
H560R |
probably benign |
Het |
| Gabrp |
A |
G |
11: 33,517,252 (GRCm39) |
I140T |
possibly damaging |
Het |
| Get1 |
A |
G |
16: 95,955,363 (GRCm39) |
D140G |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,343,798 (GRCm39) |
T288A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,700,756 (GRCm39) |
D586G |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,484,778 (GRCm39) |
V213A |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,216 (GRCm39) |
D258E |
probably damaging |
Het |
| Ier3 |
G |
T |
17: 36,132,779 (GRCm39) |
G57W |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,426,171 (GRCm39) |
C85S |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,710,942 (GRCm39) |
G384C |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Jak2 |
A |
C |
19: 29,288,353 (GRCm39) |
D1068A |
probably damaging |
Het |
| Klk4 |
T |
C |
7: 43,534,797 (GRCm39) |
I252T |
probably damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,523 (GRCm39) |
C237S |
probably damaging |
Het |
| Krtap1-3 |
T |
C |
11: 99,481,887 (GRCm39) |
T87A |
unknown |
Het |
| Lbhd1 |
A |
T |
19: 8,864,397 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
A |
G |
10: 125,838,935 (GRCm39) |
R481G |
possibly damaging |
Het |
| Lrrc1 |
T |
C |
9: 77,362,487 (GRCm39) |
Y247C |
probably benign |
Het |
| Marchf1 |
T |
A |
8: 66,908,803 (GRCm39) |
Y174* |
probably null |
Het |
| Mlxip |
A |
T |
5: 123,583,642 (GRCm39) |
T402S |
probably benign |
Het |
| Mmd2 |
T |
C |
5: 142,560,957 (GRCm39) |
K93E |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,579,792 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,566,789 (GRCm39) |
I487V |
probably benign |
Het |
| Nectin2 |
A |
G |
7: 19,453,119 (GRCm39) |
|
probably null |
Het |
| Nfkbia |
A |
T |
12: 55,537,258 (GRCm39) |
L277H |
probably damaging |
Het |
| Or4n5 |
T |
C |
14: 50,132,366 (GRCm39) |
M298V |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,596 (GRCm39) |
I255F |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,534,095 (GRCm39) |
V1410M |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,188 (GRCm39) |
N506S |
probably damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,599,401 (GRCm39) |
E172D |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,075 (GRCm39) |
D466G |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,747 (GRCm39) |
S509T |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,961,486 (GRCm39) |
D133G |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,594,263 (GRCm39) |
I394M |
probably benign |
Het |
| Rgl1 |
G |
T |
1: 152,394,922 (GRCm39) |
N715K |
probably damaging |
Het |
| Rnf212 |
G |
T |
5: 108,922,811 (GRCm39) |
S13* |
probably null |
Het |
| Rpgrip1l |
T |
C |
8: 92,031,638 (GRCm39) |
T80A |
probably damaging |
Het |
| Rsl1 |
G |
T |
13: 67,330,185 (GRCm39) |
S211I |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,843 (GRCm39) |
M304V |
probably damaging |
Het |
| Sh3rf1 |
G |
T |
8: 61,814,807 (GRCm39) |
|
probably null |
Het |
| Snx16 |
C |
A |
3: 10,485,835 (GRCm39) |
K261N |
possibly damaging |
Het |
| Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
| Styxl1 |
T |
C |
5: 135,794,672 (GRCm39) |
|
probably null |
Het |
| Tarbp2 |
A |
G |
15: 102,430,946 (GRCm39) |
D233G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,421,234 (GRCm39) |
N633Y |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,693 (GRCm39) |
L190P |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,233,244 (GRCm39) |
G55D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,733,468 (GRCm39) |
Y4602* |
probably null |
Het |
| Unc5b |
A |
T |
10: 60,609,550 (GRCm39) |
L582Q |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,610,025 (GRCm39) |
D31G |
probably damaging |
Het |
| Zbtb32 |
C |
T |
7: 30,291,320 (GRCm39) |
|
probably benign |
Het |
| Zfp936 |
C |
T |
7: 42,839,768 (GRCm39) |
L412F |
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 |
|
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'- CCCCTATACAGAAATGCTTTTAGCC -3'
(R):5'- TACAGCAGCGGAATGTCAC -3'
Sequencing Primer
(F):5'- CAACATTTCAGAGAAACATTCAAGG -3'
(R):5'- CACTATTGGTTTGGCATGGATAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation