Incidental Mutation 'R6198:Cltc'
| ID |
503054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cltc
|
| Ensembl Gene |
ENSMUSG00000047126 |
| Gene Name |
clathrin heavy chain |
| Synonyms |
CHC |
| MMRRC Submission |
044338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R6198 (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 C
at 86611188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 561
(N561S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060766]
[ENSMUST00000103186]
|
| AlphaFold |
Q68FD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060766
AA Change: N561S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: N561S
| 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: N557S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: N557S
| 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 |
noncoding transcript
Transcript: ENSMUST00000133501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141152
|
| Meta Mutation Damage Score |
0.0947 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,499 (GRCm39) |
|
probably null |
Het |
| 2610318N02Rik |
A |
G |
16: 16,936,233 (GRCm39) |
S164P |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,679 (GRCm39) |
S265G |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adam19 |
A |
C |
11: 46,012,329 (GRCm39) |
N275T |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,597,556 (GRCm39) |
T84S |
possibly damaging |
Het |
| Asl |
C |
T |
5: 130,047,757 (GRCm39) |
V70I |
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,398,271 (GRCm39) |
S26P |
probably benign |
Het |
| Bcas3 |
A |
T |
11: 85,400,261 (GRCm39) |
D410V |
probably damaging |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Ccdc15 |
A |
C |
9: 37,225,581 (GRCm39) |
|
probably null |
Het |
| Cfh |
A |
G |
1: 140,033,178 (GRCm39) |
S789P |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,420,430 (GRCm39) |
Q187R |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,177,273 (GRCm39) |
T422A |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 38,995,565 (GRCm39) |
R26* |
probably null |
Het |
| Dgkb |
A |
T |
12: 38,223,822 (GRCm39) |
M414L |
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,851,930 (GRCm39) |
D444G |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,710 (GRCm39) |
K215E |
probably damaging |
Het |
| Dnmt3c |
T |
C |
2: 153,561,929 (GRCm39) |
V544A |
noncoding transcript |
Het |
| Dus3l |
A |
T |
17: 57,074,858 (GRCm39) |
T327S |
possibly damaging |
Het |
| Elf2 |
A |
T |
3: 51,184,670 (GRCm39) |
L5Q |
probably damaging |
Het |
| Fxyd6 |
A |
G |
9: 45,301,968 (GRCm39) |
Y30C |
probably damaging |
Het |
| Gcc2 |
A |
T |
10: 58,128,412 (GRCm39) |
T1375S |
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,556 (GRCm39) |
Y393* |
probably null |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,713,757 (GRCm39) |
L246P |
probably damaging |
Het |
| Grp |
G |
T |
18: 66,013,057 (GRCm39) |
Q74H |
possibly damaging |
Het |
| Ifi203 |
A |
T |
1: 173,751,648 (GRCm39) |
M391K |
probably damaging |
Het |
| Itih2 |
A |
G |
2: 10,103,352 (GRCm39) |
Y712H |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,415,958 (GRCm39) |
V1626E |
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,833 (GRCm39) |
Y331C |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,731,994 (GRCm39) |
Y352F |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,064,018 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Lgi4 |
T |
A |
7: 30,768,547 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
T |
4: 154,100,129 (GRCm39) |
N235I |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,366,650 (GRCm39) |
I308F |
probably damaging |
Het |
| Map7d1 |
T |
A |
4: 126,135,636 (GRCm39) |
K135M |
probably damaging |
Het |
| Marchf5 |
A |
G |
19: 37,188,140 (GRCm39) |
R36G |
probably damaging |
Het |
| Mtx3 |
C |
A |
13: 92,989,359 (GRCm39) |
P299Q |
probably benign |
Het |
| Muc21 |
T |
A |
17: 35,931,808 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
C |
A |
6: 125,156,286 (GRCm39) |
E500* |
probably null |
Het |
| Nckap5l |
T |
C |
15: 99,323,869 (GRCm39) |
K878R |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,167,340 (GRCm39) |
I756T |
probably damaging |
Het |
| Olfm4 |
T |
G |
14: 80,237,813 (GRCm39) |
S17A |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,458,963 (GRCm39) |
M118V |
probably damaging |
Het |
| Or4b1 |
A |
T |
2: 89,979,782 (GRCm39) |
D189E |
probably damaging |
Het |
| Pak1ip1 |
G |
T |
13: 41,154,886 (GRCm39) |
Q27H |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,290,281 (GRCm39) |
C159* |
probably null |
Het |
| Pkn2 |
G |
T |
3: 142,516,165 (GRCm39) |
T538K |
probably benign |
Het |
| Ppp3cc |
A |
T |
14: 70,485,060 (GRCm39) |
M198K |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,095,936 (GRCm39) |
|
probably null |
Het |
| Setd3 |
T |
C |
12: 108,131,427 (GRCm39) |
K7E |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,329,414 (GRCm39) |
K86R |
probably benign |
Het |
| Slc16a7 |
T |
C |
10: 125,064,084 (GRCm39) |
T418A |
probably benign |
Het |
| Spocd1 |
C |
T |
4: 129,849,208 (GRCm39) |
P676S |
probably damaging |
Het |
| Spp1 |
A |
G |
5: 104,587,374 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,252,269 (GRCm39) |
Y2462H |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,464,396 (GRCm39) |
S42P |
probably benign |
Het |
| Tmem63b |
C |
T |
17: 45,972,442 (GRCm39) |
V722I |
probably benign |
Het |
| Ubqln1 |
A |
G |
13: 58,344,404 (GRCm39) |
S130P |
probably benign |
Het |
| Usp34 |
G |
T |
11: 23,434,127 (GRCm39) |
L3215F |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,854 (GRCm39) |
Y517C |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,875,560 (GRCm39) |
F1649Y |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,675,278 (GRCm39) |
S405P |
probably damaging |
Het |
| Zfp9 |
T |
C |
6: 118,454,282 (GRCm39) |
M1V |
probably null |
Het |
| Zfp946 |
A |
T |
17: 22,673,896 (GRCm39) |
S217C |
probably damaging |
Het |
| Zfp970 |
T |
A |
2: 177,167,253 (GRCm39) |
C276S |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,735,204 (GRCm39) |
F183Y |
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 |
|
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'- GTGACAACTTGTAAACATTGGCAC -3'
(R):5'- CTGGTAAAACTCATACATGTTCTTTGC -3'
Sequencing Primer
(F):5'- TGACTTCCCTCAGTGACAGAG -3'
(R):5'- GCATTTTAACATGACTTGCATACGTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation