Incidental Mutation 'R6765:Sclt1'
ID 543604
Institutional Source Beutler Lab
Gene Symbol Sclt1
Ensembl Gene ENSMUSG00000059834
Gene Name sodium channel and clathrin linker 1
Synonyms 2610207F23Rik, 4931421F20Rik
MMRRC Submission 044881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R6765 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 41581155-41696949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41685337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 39 (R39G)
Ref Sequence ENSEMBL: ENSMUSP00000117608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026866] [ENSMUST00000146125] [ENSMUST00000148769]
AlphaFold G5E861
Predicted Effect silent
Transcript: ENSMUST00000026866
SMART Domains Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834

DomainStartEndE-ValueType
coiled coil region 59 105 N/A INTRINSIC
internal_repeat_1 166 179 6.29e-5 PROSPERO
coiled coil region 372 543 N/A INTRINSIC
internal_repeat_1 555 568 6.29e-5 PROSPERO
coiled coil region 571 675 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000146125
AA Change: R39G
Predicted Effect silent
Transcript: ENSMUST00000148769
SMART Domains Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834

DomainStartEndE-ValueType
coiled coil region 59 105 N/A INTRINSIC
coiled coil region 178 333 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous knockout causes polycystic kidney disease, impaired postnatal weight gain and premature death (before 1 month of age). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 C A 7: 82,216,232 (GRCm39) D878E possibly damaging Het
Adipor2 A C 6: 119,334,203 (GRCm39) F336V possibly damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aoc1 A G 6: 48,882,871 (GRCm39) N249S probably benign Het
Ap1b1 T A 11: 4,969,427 (GRCm39) L261Q probably damaging Het
Ap3b1 T A 13: 94,599,017 (GRCm39) D530E probably benign Het
Arid4b T A 13: 14,361,900 (GRCm39) M788K possibly damaging Het
Atp2c2 A T 8: 120,479,756 (GRCm39) I762F probably damaging Het
Bhlhe23 C A 2: 180,418,136 (GRCm39) R134L probably damaging Het
Cacna2d3 T C 14: 28,777,934 (GRCm39) D687G probably damaging Het
Ccdc136 G A 6: 29,405,940 (GRCm39) M95I probably benign Het
Cdk12 T A 11: 98,115,355 (GRCm39) I832N unknown Het
Clcn2 A C 16: 20,526,418 (GRCm39) probably null Het
Csrnp2 C T 15: 100,380,574 (GRCm39) R239Q probably damaging Het
Dhrs13 T A 11: 77,927,965 (GRCm39) D270E probably benign Het
Dlgap2 G A 8: 14,793,284 (GRCm39) G426D probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fam120a A G 13: 49,045,440 (GRCm39) Y799H probably damaging Het
Farp1 G A 14: 121,460,066 (GRCm39) V112I probably benign Het
Fhip2a A G 19: 57,367,177 (GRCm39) D240G probably benign Het
Fsip2 A G 2: 82,816,776 (GRCm39) I4170V probably benign Het
Gm12185 A G 11: 48,806,531 (GRCm39) V220A probably benign Het
Gpr37l1 T C 1: 135,094,860 (GRCm39) Y128C probably damaging Het
Gsto2 A T 19: 47,860,227 (GRCm39) R7* probably null Het
Itih3 C T 14: 30,631,430 (GRCm39) G822D probably benign Het
Kcnu1 A T 8: 26,403,673 (GRCm39) D728V probably damaging Het
Khdc4 G T 3: 88,593,736 (GRCm39) G42W probably damaging Het
Lnpep G A 17: 17,750,758 (GRCm39) T976I probably damaging Het
Map1b A C 13: 99,562,449 (GRCm39) H2420Q unknown Het
Mc1r A G 8: 124,134,435 (GRCm39) K63E probably damaging Het
Mpped1 G A 15: 83,720,584 (GRCm39) V15M probably damaging Het
Ncor1 T C 11: 62,264,272 (GRCm39) T103A probably benign Het
Nhsl1 A T 10: 18,407,062 (GRCm39) T1399S probably benign Het
Nlrc5 C T 8: 95,216,996 (GRCm39) T995M probably benign Het
Nrbp1 G A 5: 31,403,190 (GRCm39) probably null Het
Or10g9 A C 9: 39,912,493 (GRCm39) F10C probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or8k27 T C 2: 86,275,580 (GRCm39) T249A probably benign Het
Pcdhb13 T C 18: 37,576,663 (GRCm39) L347P probably damaging Het
Pkhd1 T C 1: 20,128,563 (GRCm39) T4047A probably benign Het
Prrt2 T A 7: 126,618,769 (GRCm39) D232V probably damaging Het
Psmd5 A C 2: 34,746,545 (GRCm39) M344R probably benign Het
Pwp1 G A 10: 85,720,397 (GRCm39) E345K probably damaging Het
Qsox1 A G 1: 155,666,851 (GRCm39) Y213H probably benign Het
Rmc1 A G 18: 12,309,203 (GRCm39) N92D possibly damaging Het
Syne1 A T 10: 5,093,285 (GRCm39) probably null Het
Tmem163 G T 1: 127,479,078 (GRCm39) A147E probably damaging Het
Trav13n-4 A T 14: 53,601,557 (GRCm39) M109L probably benign Het
Trp53bp1 T C 2: 121,039,790 (GRCm39) E1283G probably damaging Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Upb1 A T 10: 75,273,978 (GRCm39) D335V probably damaging Het
Vps26b T C 9: 26,924,104 (GRCm39) E213G probably damaging Het
Vwc2 C T 11: 11,104,215 (GRCm39) T249I probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zan A G 5: 137,391,409 (GRCm39) C4692R unknown Het
Zfp106 T C 2: 120,369,935 (GRCm39) E29G probably damaging Het
Zfp551 G A 7: 12,150,767 (GRCm39) A214V possibly damaging Het
Zfp981 T A 4: 146,622,363 (GRCm39) H429Q probably benign Het
Other mutations in Sclt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Sclt1 APN 3 41,696,426 (GRCm39) unclassified probably benign
IGL01106:Sclt1 APN 3 41,629,754 (GRCm39) splice site probably benign
IGL01368:Sclt1 APN 3 41,665,610 (GRCm39) missense probably damaging 0.96
IGL02001:Sclt1 APN 3 41,636,156 (GRCm39) missense possibly damaging 0.63
IGL02897:Sclt1 APN 3 41,629,822 (GRCm39) missense probably benign 0.01
IGL03066:Sclt1 APN 3 41,672,278 (GRCm39) missense probably benign 0.00
R0038:Sclt1 UTSW 3 41,583,943 (GRCm39) splice site probably benign
R0038:Sclt1 UTSW 3 41,583,943 (GRCm39) splice site probably benign
R0172:Sclt1 UTSW 3 41,672,222 (GRCm39) missense possibly damaging 0.84
R0359:Sclt1 UTSW 3 41,616,005 (GRCm39) critical splice donor site probably null
R1281:Sclt1 UTSW 3 41,602,055 (GRCm39) missense probably benign 0.01
R1831:Sclt1 UTSW 3 41,681,546 (GRCm39) missense probably damaging 0.99
R1832:Sclt1 UTSW 3 41,681,546 (GRCm39) missense probably damaging 0.99
R1833:Sclt1 UTSW 3 41,681,546 (GRCm39) missense probably damaging 0.99
R2027:Sclt1 UTSW 3 41,685,323 (GRCm39) missense probably benign 0.00
R4578:Sclt1 UTSW 3 41,625,900 (GRCm39) nonsense probably null
R5502:Sclt1 UTSW 3 41,611,710 (GRCm39) missense probably benign 0.28
R5558:Sclt1 UTSW 3 41,616,025 (GRCm39) missense probably benign 0.14
R5601:Sclt1 UTSW 3 41,685,354 (GRCm39) missense probably benign
R5710:Sclt1 UTSW 3 41,618,398 (GRCm39) nonsense probably null
R6041:Sclt1 UTSW 3 41,581,612 (GRCm39) missense probably damaging 0.99
R6274:Sclt1 UTSW 3 41,583,951 (GRCm39) critical splice donor site probably null
R7171:Sclt1 UTSW 3 41,672,195 (GRCm39) missense probably benign 0.00
R7489:Sclt1 UTSW 3 41,584,032 (GRCm39) missense probably damaging 0.99
R7988:Sclt1 UTSW 3 41,617,889 (GRCm39) makesense probably null
R8040:Sclt1 UTSW 3 41,611,811 (GRCm39) missense probably damaging 1.00
R8158:Sclt1 UTSW 3 41,625,917 (GRCm39) missense probably benign 0.36
R8383:Sclt1 UTSW 3 41,696,450 (GRCm39) missense probably benign 0.13
R8956:Sclt1 UTSW 3 41,636,209 (GRCm39) missense probably benign 0.01
R8971:Sclt1 UTSW 3 41,681,541 (GRCm39) missense probably benign 0.01
R9227:Sclt1 UTSW 3 41,665,631 (GRCm39) missense probably benign 0.01
R9230:Sclt1 UTSW 3 41,665,631 (GRCm39) missense probably benign 0.01
R9463:Sclt1 UTSW 3 41,601,931 (GRCm39) missense probably damaging 1.00
R9729:Sclt1 UTSW 3 41,629,837 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGGAACAGGCAAGATTATCCTCC -3'
(R):5'- CGCATGCAGCCTTGTATTGC -3'

Sequencing Primer
(F):5'- GGCAAGATTATCCTCCATTATAATCC -3'
(R):5'- GCAGCCTTGTATTGCTACAGAAC -3'
Posted On 2019-03-29