Incidental Mutation 'R8419:Cltc'
ID |
653105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cltc
|
Ensembl Gene |
ENSMUSG00000047126 |
Gene Name |
clathrin heavy chain |
Synonyms |
CHC |
MMRRC Submission |
067772-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R8419 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86585177-86648391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86598392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 990
(V990A)
|
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: V994A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000050220 Gene: ENSMUSG00000047126 AA Change: V994A
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: V990A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099475 Gene: ENSMUSG00000047126 AA Change: V990A
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 |
probably benign
Transcript: ENSMUST00000124385
|
SMART Domains |
Protein: ENSMUSP00000117674 Gene: ENSMUSG00000047126
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: 99.6%
- 20x: 98.5%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,312 (GRCm39) |
I707N |
probably damaging |
Het |
Abca14 |
A |
G |
7: 119,815,489 (GRCm39) |
I246V |
probably benign |
Het |
Adam19 |
G |
A |
11: 46,015,850 (GRCm39) |
A337T |
possibly damaging |
Het |
Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
Arhgap5 |
G |
A |
12: 52,565,572 (GRCm39) |
V848I |
probably damaging |
Het |
Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,033,040 (GRCm39) |
S1310T |
probably benign |
Het |
Chi3l1 |
A |
T |
1: 134,117,280 (GRCm39) |
D367V |
probably damaging |
Het |
Col6a3 |
A |
T |
1: 90,729,935 (GRCm39) |
S1790R |
probably damaging |
Het |
Comt |
C |
T |
16: 18,230,637 (GRCm39) |
W24* |
probably null |
Het |
Cyp2c70 |
T |
C |
19: 40,149,024 (GRCm39) |
E374G |
possibly damaging |
Het |
Dach1 |
T |
C |
14: 98,406,076 (GRCm39) |
T224A |
probably damaging |
Het |
Dapk1 |
G |
A |
13: 60,887,911 (GRCm39) |
E656K |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,668,936 (GRCm39) |
S1249P |
probably benign |
Het |
Dpp8 |
A |
C |
9: 64,988,037 (GRCm39) |
I861L |
probably benign |
Het |
Enam |
C |
T |
5: 88,651,209 (GRCm39) |
S906L |
possibly damaging |
Het |
Eral1 |
A |
T |
11: 77,964,906 (GRCm39) |
I429N |
possibly damaging |
Het |
Fbxo10 |
C |
A |
4: 45,041,809 (GRCm39) |
G807C |
possibly damaging |
Het |
Fcgbpl1 |
G |
T |
7: 27,843,346 (GRCm39) |
G745C |
probably damaging |
Het |
Fsip2 |
G |
C |
2: 82,808,963 (GRCm39) |
E1761Q |
probably damaging |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gm4353 |
G |
A |
7: 115,682,784 (GRCm39) |
P266S |
probably benign |
Het |
Gpr84 |
T |
C |
15: 103,217,963 (GRCm39) |
N38S |
probably damaging |
Het |
Guca1a |
A |
T |
17: 47,706,480 (GRCm39) |
I115N |
probably damaging |
Het |
Hic1 |
C |
T |
11: 75,057,096 (GRCm39) |
V598M |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,143,604 (GRCm39) |
I309N |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,662,460 (GRCm39) |
S478P |
possibly damaging |
Het |
Kctd8 |
T |
C |
5: 69,497,713 (GRCm39) |
D311G |
probably damaging |
Het |
Klhl32 |
T |
C |
4: 24,682,203 (GRCm39) |
E127G |
possibly damaging |
Het |
Lama2 |
T |
A |
10: 27,298,559 (GRCm39) |
Y179F |
probably benign |
Het |
Lamb2 |
G |
T |
9: 108,365,563 (GRCm39) |
R1382L |
probably benign |
Het |
Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
Muc17 |
A |
T |
5: 137,175,570 (GRCm39) |
N33K |
|
Het |
Myt1 |
A |
T |
2: 181,424,399 (GRCm39) |
R31* |
probably null |
Het |
Nectin2 |
T |
C |
7: 19,451,646 (GRCm39) |
T463A |
probably benign |
Het |
Nectin2 |
A |
T |
7: 19,472,003 (GRCm39) |
Y129N |
probably damaging |
Het |
Or12d13 |
A |
G |
17: 37,647,466 (GRCm39) |
I219T |
possibly damaging |
Het |
Or4k47 |
A |
T |
2: 111,451,849 (GRCm39) |
M190K |
probably benign |
Het |
Papolb |
T |
A |
5: 142,514,296 (GRCm39) |
N449I |
possibly damaging |
Het |
Parn |
T |
C |
16: 13,466,338 (GRCm39) |
K236R |
probably benign |
Het |
Pramel22 |
A |
G |
4: 143,382,997 (GRCm39) |
I74T |
probably damaging |
Het |
Prelid1 |
G |
A |
13: 55,470,698 (GRCm39) |
R42Q |
probably damaging |
Het |
Prelp |
A |
G |
1: 133,843,020 (GRCm39) |
F42L |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,852,380 (GRCm39) |
P189L |
probably damaging |
Het |
Rimbp3 |
T |
A |
16: 17,030,886 (GRCm39) |
S1437T |
probably damaging |
Het |
Slc37a2 |
T |
A |
9: 37,148,726 (GRCm39) |
D252V |
probably benign |
Het |
Socs7 |
A |
G |
11: 97,254,165 (GRCm39) |
K233R |
probably benign |
Het |
Spopfm2 |
T |
C |
3: 94,082,921 (GRCm39) |
I297V |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,137,637 (GRCm39) |
D476G |
possibly damaging |
Het |
Tesmin |
A |
G |
19: 3,439,077 (GRCm39) |
D43G |
probably benign |
Het |
Thap1 |
C |
A |
8: 26,648,502 (GRCm39) |
Y8* |
probably null |
Het |
Tln1 |
A |
G |
4: 43,536,397 (GRCm39) |
L1965P |
probably damaging |
Het |
Tmprss11d |
A |
G |
5: 86,457,165 (GRCm39) |
S303P |
probably damaging |
Het |
Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,685,985 (GRCm39) |
I144K |
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 |
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 |
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'- ATTTGTCTCAAGGGTCAGGG -3'
(R):5'- CCCTGCAATCACATGGCATC -3'
Sequencing Primer
(F):5'- AGCGTGTATTAGGAGAACAATCC -3'
(R):5'- ACTTGTTCTTACCAGGCAA -3'
|
Posted On |
2020-10-20 |