Incidental Mutation 'R6894:Cltc'
ID 538244
Institutional Source Beutler Lab
Gene Symbol Cltc
Ensembl Gene ENSMUSG00000047126
Gene Name clathrin heavy chain
Synonyms CHC
MMRRC Submission 044988-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6894 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 86585177-86648391 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 86603428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 799 (Y799*)
Ref Sequence ENSEMBL: ENSMUSP00000099475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060766] [ENSMUST00000103186]
AlphaFold Q68FD5
Predicted Effect probably null
Transcript: ENSMUST00000060766
AA Change: Y803*
SMART Domains Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: Y803*

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 null
Transcript: ENSMUST00000103186
AA Change: Y799*
SMART Domains Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: Y799*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik C A 2: 151,315,227 (GRCm39) L150F probably damaging Het
4930449I24Rik G A 5: 146,441,542 (GRCm39) E230K possibly damaging Het
4930449I24Rik A T 5: 146,441,543 (GRCm39) E230V probably benign Het
9430038I01Rik A G 7: 136,989,117 (GRCm39) C93R possibly damaging Het
Aoc1l2 G A 6: 48,907,596 (GRCm39) A199T probably damaging Het
Apobec1 T C 6: 122,568,201 (GRCm39) probably benign Het
Arl4c T A 1: 88,629,097 (GRCm39) D97V probably damaging Het
Ash1l A G 3: 88,890,298 (GRCm39) T726A probably benign Het
Asz1 A C 6: 18,055,520 (GRCm39) F359V probably damaging Het
Atr T A 9: 95,809,250 (GRCm39) L1970H probably damaging Het
Baz2a G T 10: 127,959,450 (GRCm39) A1322S possibly damaging Het
Cd209e T A 8: 3,903,569 (GRCm39) I37F possibly damaging Het
Cd209f T C 8: 4,155,477 (GRCm39) K37R probably benign Het
Cd5 G C 19: 10,716,203 (GRCm39) S3C possibly damaging Het
Clec16a A T 16: 10,462,718 (GRCm39) I260F probably damaging Het
Cplane1 T C 15: 8,216,852 (GRCm39) L690P probably damaging Het
Csde1 G A 3: 102,951,972 (GRCm39) V258I possibly damaging Het
Dennd5a G T 7: 109,500,325 (GRCm39) H909Q probably damaging Het
Dnah12 A G 14: 26,456,904 (GRCm39) D890G probably damaging Het
Dnah2 A T 11: 69,375,086 (GRCm39) M1379K probably benign Het
Dpp10 A T 1: 123,264,593 (GRCm39) I743N probably damaging Het
Dpp9 T A 17: 56,495,321 (GRCm39) T815S probably damaging Het
Ears2 T C 7: 121,647,447 (GRCm39) N279S probably damaging Het
Ect2l A G 10: 18,045,128 (GRCm39) probably null Het
Eomes C G 9: 118,310,353 (GRCm39) P288A probably damaging Het
Fat3 T C 9: 15,909,072 (GRCm39) D2310G probably damaging Het
Fignl2 T C 15: 100,951,854 (GRCm39) T143A probably benign Het
Gdf9 A G 11: 53,327,646 (GRCm39) K201E possibly damaging Het
Gfra3 C T 18: 34,828,710 (GRCm39) R228Q probably damaging Het
Grin1 A T 2: 25,185,829 (GRCm39) V876E probably damaging Het
Igkv12-41 A C 6: 69,835,635 (GRCm39) V39G probably damaging Het
Kat7 A T 11: 95,174,910 (GRCm39) M367K possibly damaging Het
Ly6d T C 15: 74,634,654 (GRCm39) K33E possibly damaging Het
Lztfl1 T C 9: 123,529,998 (GRCm39) N273S possibly damaging Het
Macf1 T A 4: 123,377,480 (GRCm39) I1485F possibly damaging Het
Marchf10 G T 11: 105,287,787 (GRCm39) L172I possibly damaging Het
Mdn1 T G 4: 32,748,614 (GRCm39) S4220A possibly damaging Het
Muc16 A G 9: 18,406,872 (GRCm39) V8460A possibly damaging Het
Myh14 A G 7: 44,282,936 (GRCm39) F769L probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk4 A G 13: 32,905,998 (GRCm39) L395P probably damaging Het
Nat8f6 A T 6: 85,785,504 (GRCm39) L215* probably null Het
Nell2 T C 15: 95,244,768 (GRCm39) D443G probably damaging Het
Nkx6-3 A G 8: 23,647,632 (GRCm39) K197R probably benign Het
Nt5c3 A T 6: 56,859,958 (GRCm39) L293* probably null Het
Ntrk1 A T 3: 87,690,109 (GRCm39) V429D probably damaging Het
Obscn A G 11: 59,023,508 (GRCm39) V623A probably benign Het
Or2o1 T C 11: 49,051,186 (GRCm39) F115S probably benign Het
Or4c1 A G 2: 89,133,837 (GRCm39) L33S probably damaging Het
Or5ac21 A G 16: 59,124,142 (GRCm39) T209A probably damaging Het
Or5p5 C T 7: 107,414,271 (GRCm39) T160I probably benign Het
Or6c74 T C 10: 129,870,178 (GRCm39) S228P probably damaging Het
Or8k22 A T 2: 86,163,295 (GRCm39) I135N probably damaging Het
Pate3 T A 9: 35,557,969 (GRCm39) D33V probably damaging Het
Pcnx1 T A 12: 82,034,747 (GRCm39) I1843N probably damaging Het
Pla2g4f A T 2: 120,134,077 (GRCm39) I503N probably benign Het
Prkg1 C A 19: 30,602,174 (GRCm39) E361* probably null Het
Proca1 A G 11: 78,085,613 (GRCm39) probably benign Het
Prss38 G T 11: 59,263,850 (GRCm39) H287Q probably benign Het
Ptpdc1 T C 13: 48,744,114 (GRCm39) E169G probably benign Het
Ptpn21 T C 12: 98,681,440 (GRCm39) S65G probably damaging Het
Rfx6 A T 10: 51,592,135 (GRCm39) H177L probably damaging Het
Slc20a2 G A 8: 23,050,609 (GRCm39) G276D possibly damaging Het
Spag6l A T 16: 16,601,802 (GRCm39) L159I probably damaging Het
Spata31f1a G A 4: 42,850,291 (GRCm39) P622S probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Stk33 T A 7: 108,935,269 (GRCm39) E174D possibly damaging Het
Stxbp5 A T 10: 9,660,105 (GRCm39) V730E probably benign Het
Tmprss15 A T 16: 78,872,702 (GRCm39) L168* probably null Het
Tnrc18 A T 5: 142,745,804 (GRCm39) M1323K unknown Het
Tpr T C 1: 150,312,598 (GRCm39) V1932A probably benign Het
Trak2 A G 1: 58,950,892 (GRCm39) S432P probably damaging Het
Ttn A T 2: 76,738,534 (GRCm39) F4002I probably benign Het
Txndc11 G A 16: 10,906,009 (GRCm39) T507I probably damaging Het
Usp12 G A 5: 146,691,349 (GRCm39) T135I possibly damaging Het
Vit T A 17: 78,934,187 (GRCm39) Y596* probably null Het
Vmn1r32 A T 6: 66,530,345 (GRCm39) Y144N possibly damaging Het
Vmn2r80 G T 10: 79,005,438 (GRCm39) L358F probably benign Het
Zfp382 T G 7: 29,825,261 (GRCm39) S38A 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
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'- ACTTCACATTCTGGCATGGATG -3'
(R):5'- GAGAAGGACATGCAGCCTTG -3'

Sequencing Primer
(F):5'- CACATTCTGGCATGGATGTAAAATTG -3'
(R):5'- AGAGCTACATTTATGTAAGCCTCTCC -3'
Posted On 2018-11-06