Incidental Mutation 'R0553:Clhc1'
ID 45293
Institutional Source Beutler Lab
Gene Symbol Clhc1
Ensembl Gene ENSMUSG00000020461
Gene Name clathrin heavy chain linker domain containing 1
Synonyms 1700034F02Rik
MMRRC Submission 038745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R0553 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 29497950-29528360 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 29511366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020753] [ENSMUST00000208530]
AlphaFold Q5M6W3
Predicted Effect probably benign
Transcript: ENSMUST00000020753
SMART Domains Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,596,128 (GRCm39) M120L unknown Het
Aadacl4fm5 T A 4: 144,503,985 (GRCm39) I389L possibly damaging Het
Adamts13 T A 2: 26,881,346 (GRCm39) C774* probably null Het
Amh A G 10: 80,642,010 (GRCm39) probably benign Het
Armh4 T C 14: 49,920,143 (GRCm39) I729V probably damaging Het
Cd40 G A 2: 164,912,661 (GRCm39) R204Q probably benign Het
Cfap210 C A 2: 69,619,785 (GRCm39) R8L probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Flg2 A T 3: 93,110,891 (GRCm39) H973L unknown Het
Fut2 T A 7: 45,300,698 (GRCm39) I25F probably damaging Het
Galnt7 T C 8: 58,005,464 (GRCm39) probably benign Het
Gmppb A T 9: 107,926,996 (GRCm39) M56L probably benign Het
Grm3 C A 5: 9,620,048 (GRCm39) A399S probably benign Het
H2-T5 G T 17: 36,478,949 (GRCm39) P100Q probably damaging Het
Hey2 G A 10: 30,716,485 (GRCm39) probably benign Het
Ift172 A G 5: 31,433,186 (GRCm39) probably benign Het
Kcnh5 C A 12: 75,184,447 (GRCm39) C92F probably benign Het
Kdm1a T C 4: 136,282,609 (GRCm39) D229G probably damaging Het
Klf11 C G 12: 24,705,089 (GRCm39) P164R probably benign Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Krtcap3 T C 5: 31,409,147 (GRCm39) V6A probably benign Het
Ltbr A C 6: 125,290,351 (GRCm39) probably null Het
Mmp17 T G 5: 129,675,734 (GRCm39) S298A probably benign Het
Nacc2 T A 2: 25,979,602 (GRCm39) E278V possibly damaging Het
Or5k8 A T 16: 58,644,518 (GRCm39) Y185N probably damaging Het
Or8b12b T A 9: 37,684,627 (GRCm39) I224N probably benign Het
Otop2 C T 11: 115,220,288 (GRCm39) A376V probably damaging Het
Pdia2 T C 17: 26,415,217 (GRCm39) E504G probably damaging Het
Pdzph1 C T 17: 59,229,722 (GRCm39) V979M probably damaging Het
Pou5f1 A G 17: 35,820,374 (GRCm39) K86R possibly damaging Het
Ptprq A G 10: 107,546,488 (GRCm39) F269L probably benign Het
Rb1 A T 14: 73,449,152 (GRCm39) C659* probably null Het
Rnf8 T C 17: 29,840,613 (GRCm39) probably null Het
Rras T G 7: 44,669,980 (GRCm39) I137M probably benign Het
Slc38a9 A T 13: 112,850,732 (GRCm39) H372L probably damaging Het
Spata9 T C 13: 76,125,898 (GRCm39) probably null Het
Tas2r115 T C 6: 132,714,922 (GRCm39) T10A probably benign Het
Ttn T C 2: 76,629,237 (GRCm39) E12621G probably damaging Het
Unc80 A T 1: 66,545,828 (GRCm39) I460F probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zbtb24 C T 10: 41,327,993 (GRCm39) A293V possibly damaging Het
Zpld2 T C 4: 133,929,829 (GRCm39) T159A possibly damaging Het
Other mutations in Clhc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Clhc1 APN 11 29,521,745 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CTTGAGACTGAGGCCACGGAGG -3'
(R):5'- GTACTTGAACTGCTATCCCAATGACCC -3'

Sequencing Primer
(F):5'- CACGGAGGGGAAGTGACTC -3'
(R):5'- tcaggagggaggcagtag -3'
Posted On 2013-06-11