Incidental Mutation 'R9463:Sclt1'
ID 714988
Institutional Source Beutler Lab
Gene Symbol Sclt1
Ensembl Gene ENSMUSG00000059834
Gene Name sodium channel and clathrin linker 1
Synonyms 2610207F23Rik, 4931421F20Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R9463 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 41626720-41742514 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41647496 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 593 (E593G)
Ref Sequence ENSEMBL: ENSMUSP00000026866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026866] [ENSMUST00000146125] [ENSMUST00000148769]
AlphaFold G5E861
Predicted Effect probably damaging
Transcript: ENSMUST00000026866
AA Change: E593G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
AA Change: E593G

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 probably benign
Transcript: ENSMUST00000146125
Predicted Effect probably benign
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 C T 14: 8,256,789 E25K probably damaging Het
Acss2 A G 2: 155,550,112 Y218C probably benign Het
Armc8 C T 9: 99,496,150 probably null Het
Aspg G A 12: 112,123,390 G454D probably damaging Het
Atp9b T C 18: 80,765,836 T623A Het
BC055324 A T 1: 163,968,338 M428K probably benign Het
Cacna1e A G 1: 154,481,665 L655P probably damaging Het
Cant1 T A 11: 118,411,455 N12I probably damaging Het
Cep63 T C 9: 102,598,183 T445A probably benign Het
Clstn1 A T 4: 149,614,107 D50V possibly damaging Het
Cnnm2 T A 19: 46,762,551 I260N probably damaging Het
Col4a4 T C 1: 82,453,355 M1609V unknown Het
Dand5 A T 8: 84,816,309 C179* probably null Het
Dbndd1 A G 8: 123,506,808 L153P probably damaging Het
Dnhd1 A G 7: 105,657,247 I437V probably benign Het
Dnhd1 T A 7: 105,695,016 S1856T probably benign Het
Dpp8 T A 9: 65,066,418 Y641* probably null Het
Dthd1 G A 5: 62,882,283 R676H probably benign Het
Efl1 C T 7: 82,777,525 T1077M probably damaging Het
Eif3e G T 15: 43,275,313 Q83K probably benign Het
Gfm2 G A 13: 97,150,402 A170T probably damaging Het
Gm14496 T A 2: 182,000,463 H642Q probably benign Het
Gmip G A 8: 69,817,043 R596Q possibly damaging Het
Hook1 A T 4: 96,022,273 Q708L probably damaging Het
Krtap9-3 G A 11: 99,597,700 R119C unknown Het
Lnpk A C 2: 74,551,059 probably null Het
Lrp1 G T 10: 127,593,465 Y484* probably null Het
Lrrc8e C T 8: 4,235,185 P470L probably damaging Het
Mapre1 A G 2: 153,765,040 N231D probably benign Het
Muc5b T A 7: 141,851,766 N937K unknown Het
Ndufaf7 T C 17: 78,946,471 probably null Het
Nlrp5 A T 7: 23,418,800 I650F probably benign Het
Notch1 T C 2: 26,469,833 D1290G probably benign Het
Olfr845 C T 9: 19,339,024 A188V possibly damaging Het
Olfr910 T C 9: 38,539,369 I158T probably damaging Het
Orc4 C T 2: 48,936,771 probably null Het
Plekhm2 A G 4: 141,630,638 V664A probably benign Het
Pom121l2 T G 13: 21,984,232 I891S probably benign Het
Prkcsh T C 9: 22,012,686 Y425H probably damaging Het
Prps1l1 A C 12: 34,985,560 T225P probably damaging Het
Prr18 T G 17: 8,341,492 V160G probably damaging Het
Psd2 T A 18: 36,010,745 F701L probably damaging Het
Sdk1 T C 5: 141,962,793 I631T probably benign Het
Sirt1 A T 10: 63,335,708 D231E probably benign Het
Slc22a30 C T 19: 8,400,895 C139Y probably damaging Het
Sntg1 T A 1: 8,554,750 N274I probably damaging Het
Spocd1 A G 4: 129,953,605 Q529R Het
Trbv3 T A 6: 41,048,596 L40H probably damaging Het
Trpm6 T C 19: 18,783,900 probably null Het
Ttn A G 2: 76,748,175 Y24125H probably damaging Het
Tusc5 T A 11: 76,680,272 L38Q probably damaging Het
Ush1g C A 11: 115,318,230 L379F probably damaging Het
Vipr1 G A 9: 121,642,927 probably null Het
Vmn2r73 A T 7: 85,857,587 M839K Het
Wee1 T C 7: 110,122,710 S121P probably damaging Het
Zfp608 T C 18: 54,897,202 K1222R probably damaging Het
Other mutations in Sclt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Sclt1 APN 3 41741991 unclassified probably benign
IGL01106:Sclt1 APN 3 41675319 splice site probably benign
IGL01368:Sclt1 APN 3 41711175 missense probably damaging 0.96
IGL02001:Sclt1 APN 3 41681721 missense possibly damaging 0.63
IGL02897:Sclt1 APN 3 41675387 missense probably benign 0.01
IGL03066:Sclt1 APN 3 41717843 missense probably benign 0.00
R0038:Sclt1 UTSW 3 41629508 splice site probably benign
R0038:Sclt1 UTSW 3 41629508 splice site probably benign
R0172:Sclt1 UTSW 3 41717787 missense possibly damaging 0.84
R0359:Sclt1 UTSW 3 41661570 critical splice donor site probably null
R1281:Sclt1 UTSW 3 41647620 missense probably benign 0.01
R1831:Sclt1 UTSW 3 41727111 missense probably damaging 0.99
R1832:Sclt1 UTSW 3 41727111 missense probably damaging 0.99
R1833:Sclt1 UTSW 3 41727111 missense probably damaging 0.99
R2027:Sclt1 UTSW 3 41730888 missense probably benign 0.00
R4578:Sclt1 UTSW 3 41671465 nonsense probably null
R5502:Sclt1 UTSW 3 41657275 missense probably benign 0.28
R5558:Sclt1 UTSW 3 41661590 missense probably benign 0.14
R5601:Sclt1 UTSW 3 41730919 missense probably benign
R5710:Sclt1 UTSW 3 41663963 nonsense probably null
R6041:Sclt1 UTSW 3 41627177 missense probably damaging 0.99
R6274:Sclt1 UTSW 3 41629516 critical splice donor site probably null
R6765:Sclt1 UTSW 3 41730902 missense unknown
R7171:Sclt1 UTSW 3 41717760 missense probably benign 0.00
R7489:Sclt1 UTSW 3 41629597 missense probably damaging 0.99
R7988:Sclt1 UTSW 3 41663454 makesense probably null
R8040:Sclt1 UTSW 3 41657376 missense probably damaging 1.00
R8158:Sclt1 UTSW 3 41671482 missense probably benign 0.36
R8383:Sclt1 UTSW 3 41742015 missense probably benign 0.13
R8956:Sclt1 UTSW 3 41681774 missense probably benign 0.01
R8971:Sclt1 UTSW 3 41727106 missense probably benign 0.01
R9227:Sclt1 UTSW 3 41711196 missense probably benign 0.01
R9230:Sclt1 UTSW 3 41711196 missense probably benign 0.01
R9729:Sclt1 UTSW 3 41675402 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGCAACTATGGGTGTTACC -3'
(R):5'- AGGGAAAGTGACTGTTCCTTTTAC -3'

Sequencing Primer
(F):5'- GCTAGTACTTCACTGAGTGAGCTATC -3'
(R):5'- CTCCTTAGGTCAGTACAATGGAGC -3'
Posted On 2022-06-15