Incidental Mutation 'IGL01106:Sclt1'
ID50748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sclt1
Ensembl Gene ENSMUSG00000059834
Gene Namesodium channel and clathrin linker 1
Synonyms2610207F23Rik, 4931421F20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.319) question?
Stock #IGL01106
Quality Score
Status
Chromosome3
Chromosomal Location41626720-41742514 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 41675319 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026866] [ENSMUST00000146125] [ENSMUST00000148769]
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 noncoding transcript
Transcript: ENSMUST00000140373
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156279
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg13 T C 2: 91,695,952 D12G probably damaging Het
Cmya5 A G 13: 93,084,612 L3163P probably damaging Het
Cntn2 A G 1: 132,521,884 probably benign Het
Ddx23 C T 15: 98,650,940 R327Q probably benign Het
Dlec1 G A 9: 119,102,785 E91K probably benign Het
Fam13c T C 10: 70,448,816 probably null Het
Fbn1 T C 2: 125,351,706 T1398A possibly damaging Het
Frem1 T C 4: 82,922,257 T1793A probably benign Het
Gprc5b T C 7: 118,983,861 K262E probably benign Het
Hadh A T 3: 131,240,970 Y226N possibly damaging Het
Herc1 T A 9: 66,476,438 probably benign Het
Ikbke A G 1: 131,260,055 probably benign Het
Iqcg T A 16: 33,035,600 I202L possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Kcna3 A G 3: 107,037,864 E481G possibly damaging Het
Kdm1a A G 4: 136,572,328 probably benign Het
Klhdc8a A T 1: 132,304,700 S321C probably benign Het
Kntc1 A G 5: 123,762,603 K255E probably benign Het
Lhfpl4 T A 6: 113,193,863 T121S probably benign Het
Lsm11 G A 11: 45,933,663 Q346* probably null Het
Mcoln3 A G 3: 146,137,264 T368A probably benign Het
Nlrp4g A T 9: 124,350,452 noncoding transcript Het
Nol8 A G 13: 49,654,481 I58V possibly damaging Het
Olfr1040 C T 2: 86,146,216 V173M probably benign Het
Phactr4 A G 4: 132,370,805 F384S probably benign Het
Prkg1 T A 19: 30,585,278 I509L probably benign Het
Rims1 T A 1: 22,379,447 D1019V probably damaging Het
Sntg2 T A 12: 30,257,988 K233* probably null Het
Syt5 T C 7: 4,541,157 T295A probably damaging Het
Other mutations in Sclt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Sclt1 APN 3 41741991 unclassified 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
R8040:Sclt1 UTSW 3 41657376 missense probably damaging 1.00
R8158:Sclt1 UTSW 3 41671482 missense probably benign 0.36
Posted On2013-06-21