Incidental Mutation 'R5601:Sclt1'
ID 501206
Institutional Source Beutler Lab
Gene Symbol Sclt1
Ensembl Gene ENSMUSG00000059834
Gene Name sodium channel and clathrin linker 1
Synonyms 2610207F23Rik, 4931421F20Rik
MMRRC Submission 043153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R5601 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 41581155-41696949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41685354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 35 (N35Y)
Ref Sequence ENSEMBL: ENSMUSP00000123392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026866] [ENSMUST00000146125] [ENSMUST00000148769]
AlphaFold G5E861
Predicted Effect probably benign
Transcript: ENSMUST00000026866
AA Change: N35Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
AA Change: N35Y

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
AA Change: N35Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834
AA Change: N35Y

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: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,931,029 (GRCm39) V426I probably benign Het
Asmt T C X: 169,110,127 (GRCm39) V212A probably damaging Het
Atn1 A G 6: 124,720,191 (GRCm39) probably null Het
Auts2 G T 5: 131,505,662 (GRCm39) probably benign Het
AW551984 C T 9: 39,502,563 (GRCm39) V672M possibly damaging Het
Bltp3a C A 17: 28,103,468 (GRCm39) A392D probably damaging Het
Ccdc13 G A 9: 121,629,638 (GRCm39) Q114* probably null Het
Ces2e A T 8: 105,656,126 (GRCm39) I146F probably benign Het
Cfap44 A G 16: 44,280,549 (GRCm39) K1443E probably damaging Het
Cma2 T A 14: 56,211,246 (GRCm39) H179Q possibly damaging Het
Cpsf2 G T 12: 101,951,614 (GRCm39) probably null Het
Cwh43 A G 5: 73,575,283 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dram1 A G 10: 88,160,629 (GRCm39) S231P probably damaging Het
Fbxw7 A G 3: 84,883,515 (GRCm39) D482G probably damaging Het
Fstl1 T C 16: 37,647,161 (GRCm39) I177T probably benign Het
Fut9 T C 4: 25,620,299 (GRCm39) T172A probably benign Het
Gm5134 G A 10: 75,821,786 (GRCm39) V207M probably damaging Het
Hccs G A X: 168,096,597 (GRCm39) R203C probably damaging Het
Hmgxb3 A T 18: 61,270,694 (GRCm39) F877I probably damaging Het
Ide A G 19: 37,292,379 (GRCm39) V272A unknown Het
Impact C T 18: 13,109,064 (GRCm39) T65I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Muc17 A G 5: 137,166,863 (GRCm39) S309P probably damaging Het
Myf6 A C 10: 107,330,475 (GRCm39) S31A probably damaging Het
Or4n4b C A 14: 50,536,318 (GRCm39) W149C probably damaging Het
Or8b35 C G 9: 37,904,010 (GRCm39) T74R possibly damaging Het
P4hb T A 11: 120,462,441 (GRCm39) E88D possibly damaging Het
Pcdhb9 T C 18: 37,535,259 (GRCm39) C418R probably damaging Het
Pramel51 T C 12: 88,142,817 (GRCm39) D267G probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prss58 A T 6: 40,874,783 (GRCm39) N19K possibly damaging Het
Ptprq C T 10: 107,444,291 (GRCm39) A1438T probably benign Het
Rfx4 A T 10: 84,634,442 (GRCm39) T61S probably damaging Het
Sec24b CTG CTGGTG 3: 129,834,483 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,881,427 (GRCm39) I188T probably damaging Het
Slc27a4 A T 2: 29,695,672 (GRCm39) Y69F probably benign Het
Slc3a1 T C 17: 85,340,319 (GRCm39) V247A probably benign Het
Slc4a2 C T 5: 24,643,772 (GRCm39) T854I probably benign Het
Stat5b G A 11: 100,674,001 (GRCm39) T761M probably damaging Het
Stkld1 T C 2: 26,842,717 (GRCm39) L563P probably damaging Het
Tbc1d23 C A 16: 57,018,672 (GRCm39) C283F probably benign Het
Tcaf3 T C 6: 42,564,462 (GRCm39) N900S possibly damaging Het
Tkfc T C 19: 10,571,927 (GRCm39) T370A probably benign Het
Tpr T C 1: 150,311,604 (GRCm39) V1868A possibly damaging Het
Triobp T A 15: 78,857,833 (GRCm39) W1145R probably damaging Het
Vmn2r82 T G 10: 79,232,025 (GRCm39) L675V probably damaging Het
Zfp423 T C 8: 88,508,637 (GRCm39) E444G probably damaging 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
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
R6765:Sclt1 UTSW 3 41,685,337 (GRCm39) missense unknown
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'- CAACTCAATAGCAAGTCGTTATGC -3'
(R):5'- CATGCAGCCTTGTATTGCTAC -3'

Sequencing Primer
(F):5'- GCAAGTCGTTATGCTTAATTACAGC -3'
(R):5'- GCAGCCTTGTATTGCTACAGAAC -3'
Posted On 2017-12-01