Incidental Mutation 'R7944:Cltc'
| ID |
649237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cltc
|
| Ensembl Gene |
ENSMUSG00000047126 |
| Gene Name |
clathrin heavy chain |
| Synonyms |
CHC |
| MMRRC Submission |
045990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R7944 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86627967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 60
(N60K)
|
| 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: N60K
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: N60K
| 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: N60K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: N60K
| 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: 99.4%
- 20x: 98.0%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
A |
8: 13,271,929 (GRCm39) |
R1610W |
probably damaging |
Het |
| Aig1 |
A |
T |
10: 13,744,417 (GRCm39) |
M29K |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,618,362 (GRCm39) |
I2334F |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,839,190 (GRCm39) |
Y423C |
probably damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,010,670 (GRCm39) |
T346S |
probably benign |
Het |
| Asb13 |
T |
A |
13: 3,699,413 (GRCm39) |
F204L |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,926,565 (GRCm39) |
V79A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,909 (GRCm39) |
T1661A |
probably benign |
Het |
| Ccna1 |
G |
T |
3: 54,958,010 (GRCm39) |
T165K |
possibly damaging |
Het |
| Cdc42ep1 |
T |
A |
15: 78,731,973 (GRCm39) |
S139R |
possibly damaging |
Het |
| Chil3 |
A |
C |
3: 106,057,464 (GRCm39) |
Y233* |
probably null |
Het |
| Clec1a |
T |
C |
6: 129,409,150 (GRCm39) |
S159G |
probably benign |
Het |
| Dlgap4 |
T |
A |
2: 156,591,054 (GRCm39) |
Y747N |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,266,163 (GRCm39) |
N2244S |
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,040,434 (GRCm39) |
T811A |
probably damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,146,212 (GRCm39) |
Y612H |
possibly damaging |
Het |
| Gale |
T |
C |
4: 135,692,982 (GRCm39) |
L75P |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,734,466 (GRCm39) |
S1279P |
probably benign |
Het |
| Hdgfl3 |
T |
C |
7: 81,583,706 (GRCm39) |
Y22C |
possibly damaging |
Het |
| Hmx3 |
T |
G |
7: 131,146,111 (GRCm39) |
I273S |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,373,248 (GRCm39) |
N127S |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,224 (GRCm39) |
H411L |
probably benign |
Het |
| Krtap27-1 |
T |
C |
16: 88,468,340 (GRCm39) |
N68S |
probably benign |
Het |
| Ltbp1 |
T |
G |
17: 75,697,546 (GRCm39) |
*1713G |
probably null |
Het |
| Lypd6b |
A |
G |
2: 49,833,612 (GRCm39) |
E84G |
probably damaging |
Het |
| Meiosin |
T |
A |
7: 18,834,011 (GRCm39) |
K508N |
unknown |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,753 (GRCm39) |
T22A |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,077,000 (GRCm39) |
Y39C |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,495,254 (GRCm39) |
V437A |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,911,096 (GRCm39) |
T221A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,161,360 (GRCm39) |
D2144G |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,050,179 (GRCm39) |
D430A |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,984,235 (GRCm39) |
E1740V |
probably damaging |
Het |
| Or8i2 |
A |
G |
2: 86,852,657 (GRCm39) |
V77A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,919,125 (GRCm39) |
C245R |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,101,965 (GRCm39) |
T386N |
possibly damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,280,211 (GRCm39) |
A679T |
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,239,455 (GRCm39) |
T958A |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,560,481 (GRCm39) |
Y363N |
possibly damaging |
Het |
| Plekha5 |
T |
A |
6: 140,526,201 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rhbg |
A |
G |
3: 88,155,007 (GRCm39) |
L168P |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rtn2 |
T |
A |
7: 19,020,987 (GRCm39) |
S153R |
probably benign |
Het |
| Serpinb1a |
C |
A |
13: 33,034,239 (GRCm39) |
A51S |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,016,588 (GRCm39) |
T382S |
probably damaging |
Het |
| Sgip1 |
T |
G |
4: 102,772,298 (GRCm39) |
M229R |
probably benign |
Het |
| Slc1a5 |
C |
A |
7: 16,523,807 (GRCm39) |
R271S |
possibly damaging |
Het |
| Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
| Slc7a6 |
C |
T |
8: 106,906,239 (GRCm39) |
P157L |
possibly damaging |
Het |
| Spsb1 |
T |
C |
4: 149,990,903 (GRCm39) |
I222V |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,951,079 (GRCm39) |
E410V |
probably damaging |
Het |
| Trappc3 |
T |
C |
4: 126,168,999 (GRCm39) |
I163T |
probably damaging |
Het |
| Treh |
T |
C |
9: 44,592,584 (GRCm39) |
V63A |
probably damaging |
Het |
| Ttc6 |
T |
G |
12: 57,707,229 (GRCm39) |
L712R |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,715,309 (GRCm39) |
Q7928K |
unknown |
Het |
| Tuft1 |
G |
A |
3: 94,539,909 (GRCm39) |
P159S |
probably benign |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,890 (GRCm39) |
H211R |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,399,105 (GRCm39) |
I58T |
probably benign |
Het |
| Zfp78 |
C |
T |
7: 6,381,589 (GRCm39) |
T213I |
possibly damaging |
Het |
| Zmat4 |
T |
A |
8: 24,238,436 (GRCm39) |
I6N |
possibly damaging |
Het |
| Zp3r |
G |
T |
1: 130,524,560 (GRCm39) |
P226Q |
probably 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 |
|
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'- CCCTATACAGAAATGCTTTTAGCC -3'
(R):5'- TACAGCAGCGGAATGTCAC -3'
Sequencing Primer
(F):5'- CAACATTTCAGAGAAACATTCAAGG -3'
(R):5'- TGTCAAATTTTACTTCCAGGTTTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation