Incidental Mutation 'R7252:Clhc1'
ID 564017
Institutional Source Beutler Lab
Gene Symbol Clhc1
Ensembl Gene ENSMUSG00000020461
Gene Name clathrin heavy chain linker domain containing 1
Synonyms 1700034F02Rik
MMRRC Submission 045385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7252 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 29497950-29528360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29513937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 340 (S340R)
Ref Sequence ENSEMBL: ENSMUSP00000020753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020753] [ENSMUST00000208530]
AlphaFold Q5M6W3
Predicted Effect probably benign
Transcript: ENSMUST00000020753
AA Change: S340R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
AA Change: S340R

DomainStartEndE-ValueType
Pfam:TSNAXIP1_N 28 152 2.6e-26 PFAM
Pfam:Clathrin_H_link 302 365 3.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208530
AA Change: S329R

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (81/82)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Abcc2 T A 19: 43,816,388 (GRCm39) I1226N probably damaging Het
Adarb2 A G 13: 8,620,216 (GRCm39) E234G probably benign Het
Ankrd52 T C 10: 128,217,865 (GRCm39) S282P probably damaging Het
Arhgef12 A T 9: 42,927,205 (GRCm39) S306R probably benign Het
Baiap2 G T 11: 119,893,865 (GRCm39) A514S probably benign Het
BC030500 T A 8: 59,364,838 (GRCm39) probably null Het
C1qtnf12 T A 4: 156,047,072 (GRCm39) W13R unknown Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Cct8 T C 16: 87,281,807 (GRCm39) E485G probably benign Het
Cep85 T C 4: 133,875,342 (GRCm39) D542G probably benign Het
Cnot4 A T 6: 35,046,362 (GRCm39) D168E probably damaging Het
Cntn5 G A 9: 9,831,640 (GRCm39) T375I probably benign Het
Ctc1 T A 11: 68,917,000 (GRCm39) I298N probably damaging Het
Dchs2 T A 3: 83,232,610 (GRCm39) N2198K probably benign Het
Ddx6 G A 9: 44,535,050 (GRCm39) probably null Het
Defb11 A G 8: 22,395,473 (GRCm39) I68T probably benign Het
Dip2a C T 10: 76,109,036 (GRCm39) V1212I not run Het
Dop1a T A 9: 86,382,874 (GRCm39) I269N probably damaging Het
Efna3 C T 3: 89,223,971 (GRCm39) G73S possibly damaging Het
Fam98b C G 2: 117,094,373 (GRCm39) R228G probably damaging Het
Fancd2 A T 6: 113,533,246 (GRCm39) N521I probably damaging Het
Farsa A G 8: 85,587,957 (GRCm39) D134G probably damaging Het
Fat2 A T 11: 55,202,088 (GRCm39) F329I probably damaging Het
Gm14399 A T 2: 174,974,991 (GRCm39) I43K probably damaging Het
Gpr15 A G 16: 58,538,760 (GRCm39) S110P probably damaging Het
Gpr157 T C 4: 150,183,331 (GRCm39) V167A probably benign Het
Hacd4 A G 4: 88,345,000 (GRCm39) I134T possibly damaging Het
Hpgd T A 8: 56,751,461 (GRCm39) N96K probably damaging Het
Insm2 A T 12: 55,647,305 (GRCm39) T350S probably benign Het
Iqch C T 9: 63,419,518 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,147 (GRCm39) S4338P unknown Het
Krtap9-3 A G 11: 99,488,796 (GRCm39) S29P probably benign Het
Kyat3 T A 3: 142,426,219 (GRCm39) S87T probably benign Het
Minar2 A G 18: 59,199,980 (GRCm39) probably null Het
Mrpl46 T C 7: 78,430,336 (GRCm39) T145A probably benign Het
Neb A G 2: 52,214,973 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,249 (GRCm39) H55Q probably damaging Het
Or4c124 T A 2: 89,156,629 (GRCm39) probably benign Het
Or6x1 C T 9: 40,098,657 (GRCm39) T82I probably benign Het
Or7g17 A G 9: 18,768,548 (GRCm39) Y200C probably damaging Het
Or9a7 A G 6: 40,521,703 (GRCm39) I70T probably benign Het
Otogl T C 10: 107,657,804 (GRCm39) D1042G probably benign Het
Paxip1 C T 5: 27,965,084 (GRCm39) V659I probably damaging Het
Pfkl A G 10: 77,829,263 (GRCm39) W382R probably damaging Het
Pfn1 A G 11: 70,545,297 (GRCm39) W4R probably damaging Het
Pik3c2b G A 1: 133,022,472 (GRCm39) R1138H probably benign Het
Pkd1l3 A G 8: 110,387,330 (GRCm39) D1758G probably benign Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pramel29 T C 4: 143,939,510 (GRCm39) D9G possibly damaging Het
Prdm12 A G 2: 31,532,386 (GRCm39) N132S possibly damaging Het
Prokr2 T A 2: 132,223,360 (GRCm39) M61L probably benign Het
Ralgapa2 T C 2: 146,184,671 (GRCm39) probably null Het
Ralgps1 A T 2: 33,058,200 (GRCm39) D301E probably benign Het
Rcbtb2 T C 14: 73,404,220 (GRCm39) Y231H probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Relb C A 7: 19,346,538 (GRCm39) E345* probably null Het
Rhbdl3 A C 11: 80,228,411 (GRCm39) M294L possibly damaging Het
Rpl24 G A 16: 55,790,479 (GRCm39) A112T possibly damaging Het
Rsbn1l C T 5: 21,113,196 (GRCm39) R442Q probably damaging Het
Rxfp3 A T 15: 11,036,025 (GRCm39) I449N probably benign Het
Sema4c A C 1: 36,589,096 (GRCm39) C677G probably damaging Het
Sf3b3 A C 8: 111,566,562 (GRCm39) I256S probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slc39a6 G T 18: 24,734,442 (GRCm39) N82K possibly damaging Het
Slc3a2 T C 19: 8,700,521 (GRCm39) probably benign Het
Stard13 T C 5: 150,986,634 (GRCm39) Q292R probably benign Het
Tgm6 A G 2: 129,986,884 (GRCm39) R451G probably damaging Het
Tspo G T 15: 83,456,466 (GRCm39) G83V probably damaging Het
Ubxn10 T C 4: 138,448,187 (GRCm39) Q163R probably benign Het
Ushbp1 A G 8: 71,847,246 (GRCm39) S129P probably benign Het
Vmn2r23 T A 6: 123,718,540 (GRCm39) V631D probably damaging Het
Vmn2r24 T C 6: 123,764,191 (GRCm39) I356T possibly damaging Het
Vmn2r84 C T 10: 130,222,279 (GRCm39) C647Y probably damaging Het
Vps13a T C 19: 16,638,428 (GRCm39) E2356G probably benign Het
Wdr64 A G 1: 175,603,240 (GRCm39) T614A probably benign Het
Zdhhc16 G T 19: 41,929,990 (GRCm39) W271L probably damaging Het
Zer1 A C 2: 29,991,904 (GRCm39) S652A probably damaging Het
Zfp287 A G 11: 62,615,655 (GRCm39) V224A probably damaging Het
Zfp438 A T 18: 5,214,874 (GRCm39) L28* probably null Het
Zfp830 G A 11: 82,655,534 (GRCm39) A113T probably benign Het
Zfp865 G T 7: 5,037,416 (GRCm39) probably benign 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
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
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'- CAGAGAAATACTGAACATGGTACTG -3'
(R):5'- GGTCATGTACATATGTCAATCTTAGC -3'

Sequencing Primer
(F):5'- ACATGGTACTGAGTGAATAAATTTGG -3'
(R):5'- TGCCTAGCATGTATGAAGCC -3'
Posted On 2019-06-26