Incidental Mutation 'IGL00493:Clhc1'
ID 6072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clhc1
Ensembl Gene ENSMUSG00000020461
Gene Name clathrin heavy chain linker domain containing 1
Synonyms 1700034F02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL00493
Quality Score
Status
Chromosome 11
Chromosomal Location 29497950-29528360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29521745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 426 (I426N)
Ref Sequence ENSEMBL: ENSMUSP00000147007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020753] [ENSMUST00000208530]
AlphaFold Q5M6W3
Predicted Effect probably damaging
Transcript: ENSMUST00000020753
AA Change: I437N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: I437N

DomainStartEndE-ValueType
Pfam:TSNAXIP1_N 28 152 2.6e-26 PFAM
Pfam:Clathrin_H_link 302 365 3.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131366
Predicted Effect probably damaging
Transcript: ENSMUST00000208530
AA Change: I426N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,751,761 (GRCm39) T509A probably benign Het
Arhgap23 T C 11: 97,337,379 (GRCm39) probably null Het
Astn1 A T 1: 158,427,889 (GRCm39) I687F possibly damaging Het
Atg4d T C 9: 21,178,217 (GRCm39) F112L probably damaging Het
Bltp3b A C 10: 89,615,846 (GRCm39) D163A probably damaging Het
Cd200 T A 16: 45,217,409 (GRCm39) D94V probably damaging Het
Cfap46 T C 7: 139,194,359 (GRCm39) K2285R probably benign Het
Cnnm2 T A 19: 46,751,659 (GRCm39) V483E probably damaging Het
Dennd2b G A 7: 109,126,915 (GRCm39) A932V possibly damaging Het
Dlc1 A T 8: 37,037,436 (GRCm39) probably benign Het
Fpgs T C 2: 32,578,009 (GRCm39) I138V possibly damaging Het
Gpr152 T C 19: 4,193,506 (GRCm39) V349A probably benign Het
Hk1 C A 10: 62,122,127 (GRCm39) E523* probably null Het
Ift70a1 C A 2: 75,812,085 (GRCm39) probably benign Het
Krt6a T G 15: 101,601,229 (GRCm39) K241N probably damaging Het
Mcm3ap A G 10: 76,307,011 (GRCm39) S375G probably benign Het
Meikin C T 11: 54,289,320 (GRCm39) P231L probably damaging Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Mvk G A 5: 114,583,502 (GRCm39) V14I probably benign Het
Myo6 C T 9: 80,199,754 (GRCm39) S1021L probably damaging Het
N4bp2l2 G A 5: 150,585,401 (GRCm39) T193M probably benign Het
Naip5 G T 13: 100,367,279 (GRCm39) D272E probably damaging Het
Nptn T A 9: 58,550,922 (GRCm39) N316K probably damaging Het
Pde6c T C 19: 38,151,324 (GRCm39) probably benign Het
Prg4 T A 1: 150,327,671 (GRCm39) I850L probably damaging Het
Rdm1 T G 11: 101,526,580 (GRCm39) C251G possibly damaging Het
Relch A G 1: 105,624,324 (GRCm39) probably benign Het
Rps6kl1 G A 12: 85,186,157 (GRCm39) P291L probably benign Het
Sel1l A G 12: 91,781,387 (GRCm39) probably benign Het
Serpinb1b T C 13: 33,277,850 (GRCm39) F361S probably damaging Het
Sirpb1a G A 3: 15,475,788 (GRCm39) probably benign Het
Smpd1 T G 7: 105,205,848 (GRCm39) V405G probably damaging Het
Spmip11 T C 15: 98,486,425 (GRCm39) probably benign Het
Tead3 T C 17: 28,551,780 (GRCm39) T438A possibly damaging Het
Treh A T 9: 44,595,197 (GRCm39) D89V probably damaging Het
Trim10 A T 17: 37,188,140 (GRCm39) H452L probably benign Het
Ugt2b1 A G 5: 87,073,817 (GRCm39) C181R probably benign Het
Xdh A T 17: 74,230,101 (GRCm39) F277I possibly damaging Het
Zswim4 T G 8: 84,938,769 (GRCm39) T1038P probably damaging Het
Other mutations in Clhc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Clhc1 APN 11 29,511,389 (GRCm39) missense probably benign 0.43
IGL01826:Clhc1 APN 11 29,503,765 (GRCm39) splice site probably null
IGL02029:Clhc1 APN 11 29,510,798 (GRCm39) missense probably benign 0.01
IGL02479:Clhc1 APN 11 29,528,107 (GRCm39) missense probably damaging 0.98
R0553:Clhc1 UTSW 11 29,511,366 (GRCm39) splice site probably benign
R1313:Clhc1 UTSW 11 29,521,678 (GRCm39) missense probably benign
R1313:Clhc1 UTSW 11 29,521,678 (GRCm39) missense probably benign
R1482:Clhc1 UTSW 11 29,503,725 (GRCm39) missense probably damaging 1.00
R1624:Clhc1 UTSW 11 29,519,287 (GRCm39) missense possibly damaging 0.85
R1742:Clhc1 UTSW 11 29,507,647 (GRCm39) splice site probably null
R2094:Clhc1 UTSW 11 29,507,771 (GRCm39) missense probably benign 0.13
R2130:Clhc1 UTSW 11 29,507,663 (GRCm39) missense probably benign 0.33
R2237:Clhc1 UTSW 11 29,519,329 (GRCm39) missense probably benign 0.30
R3814:Clhc1 UTSW 11 29,521,826 (GRCm39) missense possibly damaging 0.57
R3854:Clhc1 UTSW 11 29,521,789 (GRCm39) missense probably damaging 1.00
R4417:Clhc1 UTSW 11 29,521,826 (GRCm39) missense possibly damaging 0.57
R4659:Clhc1 UTSW 11 29,528,229 (GRCm39) makesense probably null
R5021:Clhc1 UTSW 11 29,510,627 (GRCm39) missense probably benign 0.01
R5246:Clhc1 UTSW 11 29,525,434 (GRCm39) missense probably damaging 1.00
R5287:Clhc1 UTSW 11 29,528,244 (GRCm39) utr 3 prime probably benign
R5657:Clhc1 UTSW 11 29,511,431 (GRCm39) missense probably benign 0.03
R5771:Clhc1 UTSW 11 29,513,854 (GRCm39) missense possibly damaging 0.94
R6050:Clhc1 UTSW 11 29,511,397 (GRCm39) missense possibly damaging 0.76
R6211:Clhc1 UTSW 11 29,528,145 (GRCm39) missense probably damaging 1.00
R6500:Clhc1 UTSW 11 29,510,542 (GRCm39) missense possibly damaging 0.87
R6615:Clhc1 UTSW 11 29,528,149 (GRCm39) missense possibly damaging 0.75
R6944:Clhc1 UTSW 11 29,519,346 (GRCm39) missense probably damaging 0.97
R7252:Clhc1 UTSW 11 29,513,937 (GRCm39) missense probably benign 0.01
R7860:Clhc1 UTSW 11 29,507,651 (GRCm39) critical splice acceptor site probably null
R8221:Clhc1 UTSW 11 29,503,751 (GRCm39) missense possibly damaging 0.95
R8259:Clhc1 UTSW 11 29,503,746 (GRCm39) missense probably benign 0.37
R8769:Clhc1 UTSW 11 29,511,401 (GRCm39) missense probably damaging 0.99
R8931:Clhc1 UTSW 11 29,510,533 (GRCm39) nonsense probably null
R9752:Clhc1 UTSW 11 29,507,778 (GRCm39) missense probably benign 0.13
X0023:Clhc1 UTSW 11 29,519,305 (GRCm39) missense probably benign
Posted On 2012-04-20