Incidental Mutation 'IGL01069:Sclt1'
ID 50701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sclt1
Ensembl Gene ENSMUSG00000059834
Gene Name sodium channel and clathrin linker 1
Synonyms 2610207F23Rik, 4931421F20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL01069
Quality Score
Status
Chromosome 3
Chromosomal Location 41581155-41696949 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 41696426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026866] [ENSMUST00000026867] [ENSMUST00000026868] [ENSMUST00000108065] [ENSMUST00000119572] [ENSMUST00000120167] [ENSMUST00000148769] [ENSMUST00000146125] [ENSMUST00000146165] [ENSMUST00000194346] [ENSMUST00000143841] [ENSMUST00000195882] [ENSMUST00000192193]
AlphaFold G5E861
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000026867
Predicted Effect probably benign
Transcript: ENSMUST00000026868
Predicted Effect probably benign
Transcript: ENSMUST00000108065
Predicted Effect probably benign
Transcript: ENSMUST00000119572
Predicted Effect probably benign
Transcript: ENSMUST00000120167
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
Predicted Effect probably benign
Transcript: ENSMUST00000146125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191629
Predicted Effect probably benign
Transcript: ENSMUST00000146165
Predicted Effect probably benign
Transcript: ENSMUST00000193075
Predicted Effect probably benign
Transcript: ENSMUST00000194346
Predicted Effect probably benign
Transcript: ENSMUST00000143841
Predicted Effect probably benign
Transcript: ENSMUST00000195882
Predicted Effect probably benign
Transcript: ENSMUST00000192193
Predicted Effect probably benign
Transcript: ENSMUST00000193228
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Sclt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21