Incidental Mutation 'R9576:Cltc'
ID 722305
Institutional Source Beutler Lab
Gene Symbol Cltc
Ensembl Gene ENSMUSG00000047126
Gene Name clathrin heavy chain
Synonyms CHC
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R9576 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 86585177-86648391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86593237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 1542 (S1542F)
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: S1546F

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: S1546F

DomainStartEndE-ValueType
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: S1542F

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: S1542F

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000117674
Gene: ENSMUSG00000047126
AA Change: S75F

DomainStartEndE-ValueType
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: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Aars1 T A 8: 111,768,296 (GRCm39) Y222* probably null Het
Abi2 G T 1: 60,449,008 (GRCm39) R16L possibly damaging Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Adgrv1 T C 13: 81,691,608 (GRCm39) T1660A probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Arhgap26 T A 18: 39,253,207 (GRCm39) Y211* probably null Het
Ascc3 T C 10: 50,494,254 (GRCm39) Y230H possibly damaging Het
Btg4 C A 9: 51,030,436 (GRCm39) Q179K probably damaging Het
Ccdc150 G T 1: 54,407,544 (GRCm39) E1107* probably null Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd200r4 A G 16: 44,658,338 (GRCm39) T241A Het
Chd9 T A 8: 91,659,294 (GRCm39) S85T unknown Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Crygb T C 1: 65,119,686 (GRCm39) D98G probably benign Het
Ctbp2 A T 7: 132,616,198 (GRCm39) S246T probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Dpp10 A G 1: 123,269,409 (GRCm39) S667P probably damaging Het
Epha7 G A 4: 28,870,659 (GRCm39) C312Y probably damaging Het
Gbf1 A T 19: 46,248,122 (GRCm39) T300S probably benign Het
Glp2r T C 11: 67,655,622 (GRCm39) K40R probably benign Het
H2-Q5 G A 17: 35,613,413 (GRCm39) V49M Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Hc T A 2: 34,873,767 (GRCm39) T1656S probably benign Het
Hfm1 A T 5: 107,021,938 (GRCm39) I999N probably benign Het
Hoxc4 A T 15: 102,944,384 (GRCm39) E254V probably benign Het
Il5ra T C 6: 106,712,688 (GRCm39) N275S probably damaging Het
Itfg2 C A 6: 128,389,950 (GRCm39) A272S probably benign Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Jakmip3 A G 7: 138,621,988 (GRCm39) E296G probably damaging Het
Jchain T G 5: 88,673,976 (GRCm39) E56A probably damaging Het
Kcnh5 A T 12: 74,944,307 (GRCm39) S981T probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Klk1b4 A T 7: 43,860,477 (GRCm39) D165V probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo18a T A 11: 77,709,827 (GRCm39) I607N probably damaging Het
Nefh C T 11: 4,891,222 (GRCm39) E466K possibly damaging Het
Nudc T C 4: 133,262,989 (GRCm39) E118G probably benign Het
Or2aj6 A T 16: 19,442,961 (GRCm39) D296E probably damaging Het
Or56a3 T C 7: 104,735,760 (GRCm39) L279S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Plekha7 T C 7: 115,728,669 (GRCm39) Y1199C possibly damaging Het
Pou2f2 C A 7: 24,796,569 (GRCm39) A302S probably benign Het
Prkag3 A T 1: 74,787,082 (GRCm39) W59R Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Skap1 T C 11: 96,472,030 (GRCm39) F101S probably benign Het
Slc16a8 T A 15: 79,136,182 (GRCm39) Q340L probably damaging Het
Slc2a12 A T 10: 22,578,004 (GRCm39) Q600L possibly damaging Het
Slc39a14 T G 14: 70,556,235 (GRCm39) D47A probably benign Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sos1 T C 17: 80,742,367 (GRCm39) M387V probably benign Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Tas1r3 C T 4: 155,946,822 (GRCm39) R261H probably benign Het
Tm7sf3 C A 6: 146,511,335 (GRCm39) G385W probably damaging Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Usp13 A T 3: 32,969,135 (GRCm39) probably null Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r230 C A 17: 21,067,163 (GRCm39) C117* probably null Het
Vmn2r50 T C 7: 9,771,190 (GRCm39) Q837R probably benign Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P probably benign Het
Other mutations in Cltc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CATGACCTGGATGAAATAGGGC -3'
(R):5'- TGTGCAAGAAAGACAGCCTTTAC -3'

Sequencing Primer
(F):5'- TAGGGCATGGCGAAATCC -3'
(R):5'- CCTTTACAAGGTTGGTAAGCG -3'
Posted On 2022-08-09