Incidental Mutation 'IGL01974:Clint1'
ID181684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clint1
Ensembl Gene ENSMUSG00000006169
Gene Nameclathrin interactor 1
SynonymsC530049I24Rik, Epn4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.519) question?
Stock #IGL01974
Quality Score
Status
Chromosome11
Chromosomal Location45852051-45910625 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45909035 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 558 (N558K)
Ref Sequence ENSEMBL: ENSMUSP00000104884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109260] [ENSMUST00000109261]
Predicted Effect probably benign
Transcript: ENSMUST00000109260
AA Change: N540K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: N540K

DomainStartEndE-ValueType
ENTH 22 149 2.56e-61 SMART
low complexity region 262 279 N/A INTRINSIC
low complexity region 311 323 N/A INTRINSIC
low complexity region 332 357 N/A INTRINSIC
low complexity region 427 438 N/A INTRINSIC
low complexity region 540 563 N/A INTRINSIC
low complexity region 569 607 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109261
AA Change: N558K

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: N558K

DomainStartEndE-ValueType
ENTH 22 149 2.56e-61 SMART
low complexity region 262 279 N/A INTRINSIC
low complexity region 311 323 N/A INTRINSIC
low complexity region 332 357 N/A INTRINSIC
low complexity region 427 438 N/A INTRINSIC
low complexity region 558 581 N/A INTRINSIC
low complexity region 587 625 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133715
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 a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,659,805 D1401G possibly damaging Het
Adamts2 G A 11: 50,776,174 G433S probably damaging Het
Cacna2d2 A C 9: 107,517,422 S598R probably benign Het
Cdkl3 A G 11: 52,011,237 Q91R probably damaging Het
Celf2 T C 2: 6,604,031 Y313C probably damaging Het
Dcbld1 A G 10: 52,304,681 H147R probably benign Het
Dusp27 A T 1: 166,100,536 C502* probably null Het
Ednrb A C 14: 103,820,818 Y350D probably damaging Het
Elp2 C T 18: 24,626,203 P539L probably damaging Het
Fam217b G A 2: 178,421,227 R328Q probably damaging Het
Gm9991 G T 1: 90,675,475 noncoding transcript Het
Herc4 T G 10: 63,299,241 probably null Het
Hus1 T C 11: 9,000,088 N211S possibly damaging Het
Immt A G 6: 71,872,858 D454G probably damaging Het
Itga4 G A 2: 79,273,127 probably benign Het
Kank1 A T 19: 25,410,232 N423I possibly damaging Het
Kynu T A 2: 43,681,340 probably benign Het
Mycbp2 A C 14: 103,143,211 S3670A possibly damaging Het
Ndufv3 T C 17: 31,521,609 V30A probably benign Het
Olfr1048 G T 2: 86,235,960 L292I probably benign Het
Per2 C T 1: 91,423,718 R1022Q probably benign Het
Rad23a T C 8: 84,838,939 E30G probably damaging Het
Ropn1l T A 15: 31,449,109 Y91F probably benign Het
Sertad4 C A 1: 192,846,966 E181* probably null Het
Tnfrsf1b G A 4: 145,215,851 P454L probably damaging Het
Ttbk2 G A 2: 120,786,083 R110W probably damaging Het
Usp17le G T 7: 104,768,435 S500Y probably benign Het
Other mutations in Clint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Clint1 APN 11 45909019 missense probably benign 0.20
IGL02312:Clint1 APN 11 45894056 missense probably damaging 1.00
R1440:Clint1 UTSW 11 45890783 missense probably damaging 1.00
R1720:Clint1 UTSW 11 45887410 missense probably damaging 0.99
R1722:Clint1 UTSW 11 45906406 missense possibly damaging 0.68
R1736:Clint1 UTSW 11 45906177 splice site probably null
R2012:Clint1 UTSW 11 45894092 missense possibly damaging 0.77
R2334:Clint1 UTSW 11 45909028 missense probably damaging 0.97
R5260:Clint1 UTSW 11 45907942 missense probably damaging 1.00
R5413:Clint1 UTSW 11 45886480 missense probably damaging 1.00
R6331:Clint1 UTSW 11 45895081 missense probably benign 0.14
R7343:Clint1 UTSW 11 45883763 missense probably damaging 1.00
R7507:Clint1 UTSW 11 45908949 missense possibly damaging 0.94
R8045:Clint1 UTSW 11 45890739 missense possibly damaging 0.91
X0005:Clint1 UTSW 11 45906430 missense probably benign 0.01
Posted On2014-05-07