Incidental Mutation 'R5657:Clhc1'
ID 442391
Institutional Source Beutler Lab
Gene Symbol Clhc1
Ensembl Gene ENSMUSG00000020461
Gene Name clathrin heavy chain linker domain containing 1
Synonyms 1700034F02Rik
MMRRC Submission 043171-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5657 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 29497950-29528360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29511431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 292 (I292V)
Ref Sequence ENSEMBL: ENSMUSP00000147007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020753] [ENSMUST00000208530]
AlphaFold Q5M6W3
Predicted Effect probably benign
Transcript: ENSMUST00000020753
AA Change: I303V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: I303V

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: I292V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A G 5: 31,051,390 (GRCm39) Y533C probably damaging Het
Ahnak T C 19: 8,991,979 (GRCm39) V4421A probably damaging Het
Bach1 A G 16: 87,516,173 (GRCm39) K238R probably benign Het
Bloc1s6 T A 2: 122,580,577 (GRCm39) V12D probably benign Het
Clca3b C A 3: 144,533,144 (GRCm39) L629F probably benign Het
Col27a1 T C 4: 63,143,547 (GRCm39) S412P probably damaging Het
Col6a4 A G 9: 105,949,397 (GRCm39) I746T probably damaging Het
Cracr2a G A 6: 127,580,970 (GRCm39) A49T probably damaging Het
Cyb561d1 A G 3: 108,108,008 (GRCm39) I28T possibly damaging Het
Dnah11 T A 12: 117,847,352 (GRCm39) M4264L probably damaging Het
Dnajc13 A G 9: 104,105,736 (GRCm39) L412S probably damaging Het
Dpf3 T C 12: 83,371,785 (GRCm39) N150S probably damaging Het
Epha2 T C 4: 141,050,805 (GRCm39) C854R probably damaging Het
Fat2 G T 11: 55,201,507 (GRCm39) Y522* probably null Het
Foxm1 A T 6: 128,350,351 (GRCm39) S551C possibly damaging Het
Galnt12 T C 4: 47,104,150 (GRCm39) V136A possibly damaging Het
Gm6647 T G 5: 13,818,835 (GRCm39) noncoding transcript Het
Grin2b T A 6: 135,710,085 (GRCm39) I1154F possibly damaging Het
Hmcn1 A G 1: 150,534,313 (GRCm39) V2987A probably benign Het
Jade2 A G 11: 51,707,814 (GRCm39) S800P probably damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or1e33 T C 11: 73,738,366 (GRCm39) N195S probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plod1 T C 4: 148,003,238 (GRCm39) E529G possibly damaging Het
Plppr2 T C 9: 21,858,911 (GRCm39) C343R probably damaging Het
Prpf38a T C 4: 108,425,621 (GRCm39) D219G probably damaging Het
Ptpra G A 2: 130,346,204 (GRCm39) E122K probably benign Het
Rabl2 T C 15: 89,472,416 (GRCm39) M38V probably benign Het
Reep1 A G 6: 71,738,358 (GRCm39) M39V possibly damaging Het
Rsf1 GC GCGGCGGCGTC 7: 97,229,141 (GRCm39) probably benign Het
Slc26a10 T C 10: 127,010,833 (GRCm39) probably benign Het
Sun2 C A 15: 79,612,150 (GRCm39) E510* probably null Het
Tanc1 A G 2: 59,665,051 (GRCm39) probably null Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tor1aip1 G T 1: 155,883,234 (GRCm39) H205N probably damaging Het
Trpc6 C T 9: 8,609,808 (GRCm39) T92I probably benign Het
Vmn2r100 T A 17: 19,725,178 (GRCm39) F36I probably benign Het
Zfp787 T C 7: 6,136,053 (GRCm39) Y66C probably 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
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
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'- TCACTTTAGGAAGGGGCTGG -3'
(R):5'- TTGAACTGCTATCCCAATGACCC -3'

Sequencing Primer
(F):5'- CTGGTGTTGTGTGAAAGCAAAG -3'
(R):5'- TGCAGGCTAGCAGTCAGG -3'
Posted On 2016-11-09