Incidental Mutation 'IGL02029:Clhc1'
ID184302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clhc1
Ensembl Gene ENSMUSG00000020461
Gene Nameclathrin heavy chain linker domain containing 1
Synonyms1700034F02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02029
Quality Score
Status
Chromosome11
Chromosomal Location29547950-29578367 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29560798 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 256 (S256P)
Ref Sequence ENSEMBL: ENSMUSP00000147007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020753] [ENSMUST00000208530]
Predicted Effect probably benign
Transcript: ENSMUST00000020753
AA Change: S267P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: S267P

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 benign
Transcript: ENSMUST00000208530
AA Change: S256P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 127,080,283 V221A unknown Het
Akr1c13 T A 13: 4,205,362 Y317* probably null Het
Bicd2 T A 13: 49,369,499 I30N probably damaging Het
Cadm2 G T 16: 66,747,296 N291K probably damaging Het
Ccdc61 C T 7: 18,903,498 C68Y probably damaging Het
Ccnl2 A G 4: 155,821,862 S351G probably benign Het
Cdcp1 A G 9: 123,183,834 probably benign Het
Fam83h T C 15: 76,006,438 E37G probably damaging Het
Fancd2 C T 6: 113,570,975 L938F probably benign Het
Fbn2 G T 18: 58,209,603 A68E probably benign Het
Fcrl1 T A 3: 87,376,487 probably benign Het
Ganc A G 2: 120,459,857 T892A probably benign Het
Gramd1a C T 7: 31,132,824 R596H possibly damaging Het
Limk1 A T 5: 134,657,954 Y518* probably null Het
Map1a A G 2: 121,303,298 T1294A possibly damaging Het
March3 G A 18: 56,807,681 P126S probably benign Het
Ntn5 A G 7: 45,686,591 I149V probably benign Het
Nup43 T C 10: 7,667,583 F8L possibly damaging Het
Olfr1105 A G 2: 87,033,901 F107L probably benign Het
Olfr1484 A T 19: 13,586,104 M267L probably benign Het
P2rx6 C T 16: 17,568,095 S236F probably benign Het
Peg10 G T 6: 4,754,473 probably benign Het
Runx2 T A 17: 44,658,687 R238* probably null Het
Serpinb9d A T 13: 33,196,529 I133L possibly damaging Het
Snph A G 2: 151,593,607 V434A probably damaging Het
Trp53rkb C A 2: 166,795,394 P90Q probably damaging Het
Ttn C A 2: 76,749,804 E21836* probably null Het
Ube3c T A 5: 29,619,328 F507I probably damaging Het
Ugt1a6a T C 1: 88,138,681 S70P probably benign Het
Zcchc6 A G 13: 59,784,888 probably benign Het
Zfp354b C T 11: 50,923,837 C87Y probably benign Het
Zfp462 G T 4: 55,079,395 probably benign Het
Other mutations in Clhc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Clhc1 APN 11 29571745 missense probably damaging 0.99
IGL00976:Clhc1 APN 11 29561389 missense probably benign 0.43
IGL01826:Clhc1 APN 11 29553765 splice site probably null
IGL02479:Clhc1 APN 11 29578107 missense probably damaging 0.98
R0553:Clhc1 UTSW 11 29561366 splice site probably benign
R1313:Clhc1 UTSW 11 29571678 missense probably benign
R1313:Clhc1 UTSW 11 29571678 missense probably benign
R1482:Clhc1 UTSW 11 29553725 missense probably damaging 1.00
R1624:Clhc1 UTSW 11 29569287 missense possibly damaging 0.85
R1742:Clhc1 UTSW 11 29557647 splice site probably null
R2094:Clhc1 UTSW 11 29557771 missense probably benign 0.13
R2130:Clhc1 UTSW 11 29557663 missense probably benign 0.33
R2237:Clhc1 UTSW 11 29569329 missense probably benign 0.30
R3814:Clhc1 UTSW 11 29571826 missense possibly damaging 0.57
R3854:Clhc1 UTSW 11 29571789 missense probably damaging 1.00
R4417:Clhc1 UTSW 11 29571826 missense possibly damaging 0.57
R4659:Clhc1 UTSW 11 29578229 makesense probably null
R5021:Clhc1 UTSW 11 29560627 missense probably benign 0.01
R5246:Clhc1 UTSW 11 29575434 missense probably damaging 1.00
R5287:Clhc1 UTSW 11 29578244 utr 3 prime probably benign
R5657:Clhc1 UTSW 11 29561431 missense probably benign 0.03
R5771:Clhc1 UTSW 11 29563854 missense possibly damaging 0.94
R6050:Clhc1 UTSW 11 29561397 missense possibly damaging 0.76
R6211:Clhc1 UTSW 11 29578145 missense probably damaging 1.00
R6500:Clhc1 UTSW 11 29560542 missense possibly damaging 0.87
R6615:Clhc1 UTSW 11 29578149 missense possibly damaging 0.75
R6944:Clhc1 UTSW 11 29569346 missense probably damaging 0.97
X0023:Clhc1 UTSW 11 29569305 missense probably benign
Posted On2014-05-07