Incidental Mutation 'R7649:Clta'
ID 590678
Institutional Source Beutler Lab
Gene Symbol Clta
Ensembl Gene ENSMUSG00000028478
Gene Name clathrin light chain A
Synonyms
MMRRC Submission 045646-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.522) question?
Stock # R7649 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 44004452-44032846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44025494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 140 (I140R)
Ref Sequence ENSEMBL: ENSMUSP00000103478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107845] [ENSMUST00000107846] [ENSMUST00000107847] [ENSMUST00000107849] [ENSMUST00000107851] [ENSMUST00000170241]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000107845
AA Change: I138R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103477
Gene: ENSMUSG00000028478
AA Change: I138R

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 215 1.4e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107846
AA Change: I140R

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103478
Gene: ENSMUSG00000028478
AA Change: I140R

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107847
AA Change: I140R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103479
Gene: ENSMUSG00000028478
AA Change: I140R

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 229 2e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107849
AA Change: I140R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103481
Gene: ENSMUSG00000028478
AA Change: I140R

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 235 3.5e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107851
AA Change: I140R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103483
Gene: ENSMUSG00000028478
AA Change: I140R

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 15 247 4.1e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170241
AA Change: I140R

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127344
Gene: ENSMUSG00000028478
AA Change: I140R

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 3 217 1.1e-73 PFAM
Meta Mutation Damage Score 0.1078 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,053,364 (GRCm39) V319A probably benign Het
Adam28 T A 14: 68,872,282 (GRCm39) Y320F probably benign Het
Adam4 T C 12: 81,467,151 (GRCm39) Y490C probably damaging Het
Ampd3 G T 7: 110,377,049 (GRCm39) L13F probably benign Het
Arhgap45 C A 10: 79,866,835 (GRCm39) Q1113K probably benign Het
Arid5b T C 10: 67,954,175 (GRCm39) T370A possibly damaging Het
Arl15 A G 13: 114,104,208 (GRCm39) D115G possibly damaging Het
AW146154 G A 7: 41,130,156 (GRCm39) T320I probably benign Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chchd4 C T 6: 91,444,754 (GRCm39) R11Q probably benign Het
Cnpy1 T C 5: 28,412,282 (GRCm39) T84A probably benign Het
Cpne5 T C 17: 29,445,172 (GRCm39) D44G probably damaging Het
Crkl T C 16: 17,270,366 (GRCm39) S9P unknown Het
Csmd3 T C 15: 47,532,539 (GRCm39) D1641G Het
Ctnnd2 A G 15: 31,027,630 (GRCm39) T1185A probably benign Het
Dlc1 A T 8: 37,049,894 (GRCm39) L607Q probably damaging Het
Dpy19l2 T C 9: 24,607,459 (GRCm39) M1V probably null Het
Dst T C 1: 34,206,778 (GRCm39) V982A probably benign Het
Fam135b T C 15: 71,334,429 (GRCm39) I922V probably benign Het
Fbxl13 T C 5: 21,819,664 (GRCm39) E245G probably benign Het
Fcgbp T C 7: 27,790,928 (GRCm39) S730P possibly damaging Het
Ggt1 T C 10: 75,421,290 (GRCm39) V468A possibly damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Herpud2 T C 9: 25,021,902 (GRCm39) E248G possibly damaging Het
Il17rd C A 14: 26,761,167 (GRCm39) A36E probably benign Het
Irf2bpl T C 12: 86,929,572 (GRCm39) Y367C possibly damaging Het
Lama1 T A 17: 68,044,549 (GRCm39) D149E Het
Lipf A T 19: 33,943,098 (GRCm39) E135D possibly damaging Het
Manea T A 4: 26,328,234 (GRCm39) D269V probably damaging Het
Megf6 A G 4: 154,349,542 (GRCm39) Y910C probably damaging Het
Mical3 G A 6: 120,911,909 (GRCm39) R1928W probably damaging Het
Or13c3 G A 4: 52,855,692 (GRCm39) Q274* probably null Het
Or5b108 T A 19: 13,168,136 (GRCm39) I35N possibly damaging Het
Plch1 G T 3: 63,605,590 (GRCm39) S1438* probably null Het
Por T C 5: 135,763,359 (GRCm39) F595L probably damaging Het
Prkcg G A 7: 3,378,480 (GRCm39) R634H probably benign Het
Prr14l C T 5: 32,985,589 (GRCm39) G1302D probably benign Het
Rcan3 A T 4: 135,139,799 (GRCm39) S135T probably benign Het
Rnf223 A G 4: 156,216,660 (GRCm39) M12V probably benign Het
Rps6kb2 A G 19: 4,207,020 (GRCm39) S483P unknown Het
Sacs T A 14: 61,440,677 (GRCm39) F908I possibly damaging Het
Slc4a9 A G 18: 36,661,430 (GRCm39) Q64R probably benign Het
Slco4c1 T A 1: 96,756,667 (GRCm39) I552F probably benign Het
Sppl2b C T 10: 80,703,253 (GRCm39) P505L probably benign Het
Sptbn4 A G 7: 27,061,002 (GRCm39) S2434P possibly damaging Het
Ssh1 A T 5: 114,088,612 (GRCm39) M395K probably benign Het
Stk10 A T 11: 32,527,764 (GRCm39) I171F Het
Tmx3 C T 18: 90,558,154 (GRCm39) A402V probably damaging Het
Tnfrsf13c T C 15: 82,108,341 (GRCm39) D58G possibly damaging Het
Tnk1 T C 11: 69,744,403 (GRCm39) probably null Het
Trav14n-3 A T 14: 53,607,951 (GRCm39) N94Y probably damaging Het
Trav5-4 A T 14: 53,941,902 (GRCm39) K92* probably null Het
Tsga10 C T 1: 37,874,229 (GRCm39) R190H unknown Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfhx4 A G 3: 5,307,170 (GRCm39) Y132C probably damaging Het
Zfp521 T C 18: 13,977,413 (GRCm39) E1000G probably damaging Het
Other mutations in Clta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02078:Clta APN 4 44,030,232 (GRCm39) missense probably damaging 1.00
IGL02414:Clta APN 4 44,030,274 (GRCm39) intron probably benign
IGL03184:Clta APN 4 44,025,514 (GRCm39) missense probably benign 0.12
R0129:Clta UTSW 4 44,032,424 (GRCm39) missense probably benign 0.02
R2248:Clta UTSW 4 44,012,852 (GRCm39) missense probably damaging 1.00
R4489:Clta UTSW 4 44,032,417 (GRCm39) missense probably damaging 0.99
R4599:Clta UTSW 4 44,012,819 (GRCm39) missense probably damaging 1.00
R7432:Clta UTSW 4 44,032,419 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TTTCTGGAGAGTTAGACGCATC -3'
(R):5'- TTCTTCCAGATCCCCAAGGC -3'

Sequencing Primer
(F):5'- TTCTGTAGACCAGCATTCAGAGG -3'
(R):5'- GCCTTTCTAAGAAGGCAGGCAC -3'
Posted On 2019-10-24