Incidental Mutation 'R8090:Clint1'
ID 629900
Institutional Source Beutler Lab
Gene Symbol Clint1
Ensembl Gene ENSMUSG00000006169
Gene Name clathrin interactor 1
Synonyms C530049I24Rik, Epn4
MMRRC Submission 067523-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R8090 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 45742797-45801452 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45778267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
Ref Sequence ENSEMBL: ENSMUSP00000104883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109260] [ENSMUST00000109261]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000109260
AA Change: V136A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104883
Gene: ENSMUSG00000006169
AA Change: V136A

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 damaging
Transcript: ENSMUST00000109261
AA Change: V136A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104884
Gene: ENSMUSG00000006169
AA Change: V136A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 92.1%
Validation Efficiency 99% (73/74)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat T C 11: 116,487,017 (GRCm39) C75R probably damaging Het
Ackr2 A G 9: 121,738,045 (GRCm39) D140G possibly damaging Het
Adgrv1 C A 13: 81,596,953 (GRCm39) probably null Het
Arpp21 A G 9: 111,945,769 (GRCm39) L593S unknown Het
Atn1 G A 6: 124,722,304 (GRCm39) P850S unknown Het
Capn13 G A 17: 73,689,849 (GRCm39) S54L probably benign Het
Cd1d2 C T 3: 86,893,964 (GRCm39) P5S possibly damaging Het
Cgn A G 3: 94,687,263 (GRCm39) V13A probably damaging Het
Cox5a T A 9: 57,436,346 (GRCm39) L66M probably damaging Het
Crb2 G T 2: 37,685,503 (GRCm39) C1205F probably damaging Het
Ddx3y C T Y: 1,264,897 (GRCm39) S519N probably benign Het
Defb50 G A 8: 22,321,087 (GRCm39) G26S probably damaging Het
Dock8 T C 19: 25,131,606 (GRCm39) L1112P probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Gm9837 A G 11: 53,361,065 (GRCm39) S50P unknown Het
Gon4l A G 3: 88,799,931 (GRCm39) I859V probably damaging Het
Grin3a A T 4: 49,714,224 (GRCm39) D840E probably damaging Het
Ifit2 T A 19: 34,550,662 (GRCm39) N67K possibly damaging Het
Il17re G A 6: 113,439,250 (GRCm39) W53* probably null Het
Kbtbd4 A T 2: 90,736,183 (GRCm39) probably benign Het
Krt25 T A 11: 99,207,416 (GRCm39) probably null Het
Krt26 T C 11: 99,227,315 (GRCm39) M171V probably benign Het
Lrba T C 3: 86,255,796 (GRCm39) L1046S probably benign Het
Lrp2 G T 2: 69,295,089 (GRCm39) P3410T possibly damaging Het
Madd T C 2: 90,985,968 (GRCm39) K1241R probably benign Het
Mcm8 T G 2: 132,673,569 (GRCm39) S402A probably benign Het
Mpc1 A C 17: 8,515,705 (GRCm39) Q74H probably benign Het
Mroh4 A G 15: 74,496,550 (GRCm39) V279A probably benign Het
Muc21 G C 17: 35,932,617 (GRCm39) T523S unknown Het
Ndufs2 A T 1: 171,064,247 (GRCm39) H380Q probably damaging Het
Nkx2-6 T C 14: 69,409,465 (GRCm39) L72P possibly damaging Het
Nme6 T A 9: 109,671,019 (GRCm39) L73* probably null Het
Odf2l G T 3: 144,832,796 (GRCm39) A85S probably damaging Het
Or51ac3 A T 7: 103,214,048 (GRCm39) I146K probably benign Het
P4ha3 T A 7: 99,949,859 (GRCm39) C109S probably damaging Het
Plpp6 C T 19: 28,942,271 (GRCm39) Q291* probably null Het
Plxnd1 G A 6: 115,933,578 (GRCm39) A1855V probably damaging Het
Ptcd1 A T 5: 145,096,345 (GRCm39) H249Q possibly damaging Het
Rnf149 C A 1: 39,616,304 (GRCm39) A18S unknown Het
Scara5 C T 14: 65,979,586 (GRCm39) R368* probably null Het
Sfmbt2 G A 2: 10,466,190 (GRCm39) D342N probably benign Het
Shank3 T A 15: 89,389,661 (GRCm39) probably null Het
Slc22a27 A G 19: 7,843,101 (GRCm39) probably null Het
Srgap3 G T 6: 112,757,996 (GRCm39) Y170* probably null Het
Szt2 A T 4: 118,244,199 (GRCm39) probably null Het
Tbccd1 A G 16: 22,660,805 (GRCm39) S4P probably benign Het
Tcf20 A G 15: 82,740,207 (GRCm39) S415P probably damaging Het
Tdrd9 T C 12: 111,982,369 (GRCm39) S487P probably damaging Het
Trim26 A G 17: 37,167,640 (GRCm39) Q300R possibly damaging Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Yif1b A G 7: 28,943,726 (GRCm39) N93S probably benign Het
Zdhhc22 C A 12: 87,030,394 (GRCm39) V185F probably benign Het
Zfp638 G T 6: 83,906,801 (GRCm39) S322I probably damaging Het
Zfp786 T A 6: 47,796,943 (GRCm39) H665L probably damaging Het
Zfp799 C T 17: 33,039,949 (GRCm39) V106I probably benign Het
Other mutations in Clint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Clint1 APN 11 45,799,846 (GRCm39) missense probably benign 0.20
IGL01974:Clint1 APN 11 45,799,862 (GRCm39) missense probably benign 0.24
IGL02312:Clint1 APN 11 45,784,883 (GRCm39) missense probably damaging 1.00
R1440:Clint1 UTSW 11 45,781,610 (GRCm39) missense probably damaging 1.00
R1720:Clint1 UTSW 11 45,778,237 (GRCm39) missense probably damaging 0.99
R1722:Clint1 UTSW 11 45,797,233 (GRCm39) missense possibly damaging 0.68
R1736:Clint1 UTSW 11 45,797,004 (GRCm39) splice site probably null
R2012:Clint1 UTSW 11 45,784,919 (GRCm39) missense possibly damaging 0.77
R2334:Clint1 UTSW 11 45,799,855 (GRCm39) missense probably damaging 0.97
R5260:Clint1 UTSW 11 45,798,769 (GRCm39) missense probably damaging 1.00
R5413:Clint1 UTSW 11 45,777,307 (GRCm39) missense probably damaging 1.00
R6331:Clint1 UTSW 11 45,785,908 (GRCm39) missense probably benign 0.14
R7343:Clint1 UTSW 11 45,774,590 (GRCm39) missense probably damaging 1.00
R7507:Clint1 UTSW 11 45,799,776 (GRCm39) missense possibly damaging 0.94
R8045:Clint1 UTSW 11 45,781,566 (GRCm39) missense possibly damaging 0.91
R8488:Clint1 UTSW 11 45,781,457 (GRCm39) missense probably damaging 1.00
R8795:Clint1 UTSW 11 45,775,178 (GRCm39) missense probably damaging 0.98
R9021:Clint1 UTSW 11 45,797,042 (GRCm39) missense probably benign 0.00
R9034:Clint1 UTSW 11 45,799,783 (GRCm39) missense possibly damaging 0.56
R9034:Clint1 UTSW 11 45,799,782 (GRCm39) missense probably benign 0.00
R9117:Clint1 UTSW 11 45,781,562 (GRCm39) missense probably damaging 0.98
R9215:Clint1 UTSW 11 45,774,578 (GRCm39) missense probably damaging 1.00
R9380:Clint1 UTSW 11 45,742,988 (GRCm39) missense probably benign
R9500:Clint1 UTSW 11 45,797,194 (GRCm39) missense possibly damaging 0.94
X0005:Clint1 UTSW 11 45,797,257 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGCTGTCTAGGGTCATAAGTC -3'
(R):5'- TGGTATTTCACTGACTCTCACG -3'

Sequencing Primer
(F):5'- GAATTTAATGCCATAATCTGCCTCC -3'
(R):5'- GTATTTCACTGACTCTCACGATACAG -3'
Posted On 2020-06-30