Incidental Mutation 'R0010:Cldnd1'
ID7963
Institutional Source Beutler Lab
Gene Symbol Cldnd1
Ensembl Gene ENSMUSG00000022744
Gene Nameclaudin domain containing 1
Synonyms1110019C08Rik, Cldn25
MMRRC Submission 038305-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #R0010 (G1)
Quality Score
Status Validated
Chromosome16
Chromosomal Location58727910-58734251 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to A at 58731259 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023426] [ENSMUST00000159944] [ENSMUST00000162057] [ENSMUST00000162191]
Predicted Effect probably benign
Transcript: ENSMUST00000023426
SMART Domains Protein: ENSMUSP00000023426
Gene: ENSMUSG00000022744

DomainStartEndE-ValueType
Pfam:Claudin_2 17 235 9.2e-25 PFAM
Pfam:PMP22_Claudin 101 233 7.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159829
Predicted Effect probably benign
Transcript: ENSMUST00000159944
SMART Domains Protein: ENSMUSP00000124455
Gene: ENSMUSG00000022744

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162057
SMART Domains Protein: ENSMUSP00000125497
Gene: ENSMUSG00000022744

DomainStartEndE-ValueType
Pfam:Claudin_2 17 235 1.2e-24 PFAM
Pfam:PMP22_Claudin 101 233 7.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162191
SMART Domains Protein: ENSMUSP00000124461
Gene: ENSMUSG00000022744

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162249
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 70.9%
  • 10x: 47.0%
  • 20x: 26.4%
Validation Efficiency 91% (78/86)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 C T 5: 81,792,403 A1320V possibly damaging Het
Ahrr G A 13: 74,283,024 probably benign Het
BC037034 T C 5: 138,260,293 probably null Het
Cd74 A T 18: 60,809,071 H124L probably benign Het
Cdk5rap2 T C 4: 70,243,459 E270G probably benign Het
Dennd4a T C 9: 64,896,715 L1112P probably benign Het
Evc2 T A 5: 37,417,449 L1016Q probably damaging Het
Fam135b T C 15: 71,622,032 K16R probably damaging Het
Frem1 T C 4: 83,000,098 I536V probably benign Het
Ginm1 T C 10: 7,775,374 probably benign Het
Glrb A T 3: 80,860,315 probably benign Het
Glt6d1 C A 2: 25,794,727 probably null Het
Gm10320 T C 13: 98,489,546 Y110C probably damaging Het
Intu T C 3: 40,654,272 probably benign Het
Ltbp1 A G 17: 75,363,391 T1476A probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Mitf A G 6: 97,807,281 K33R probably benign Het
Nlgn1 G T 3: 25,435,842 probably benign Het
Nup133 A T 8: 123,904,579 I1072N probably damaging Het
Rock1 T A 18: 10,084,380 D951V probably damaging Het
Scgb2b26 T A 7: 33,944,349 E55D probably damaging Het
Scn8a T C 15: 101,013,573 V958A probably damaging Het
Sgk1 G A 10: 21,997,438 probably null Het
Shprh C T 10: 11,151,931 T94I probably benign Het
Smg1 A T 7: 118,171,859 probably benign Het
Spta1 G A 1: 174,217,943 V1556I probably benign Het
Trappc4 G A 9: 44,405,231 probably benign Het
Txlna T G 4: 129,629,086 D487A probably benign Het
Ube2d2b T C 5: 107,830,636 F51S possibly damaging Het
Wdfy3 T C 5: 101,848,349 T3234A probably damaging Het
Zbtb41 T G 1: 139,423,530 V127G probably damaging Het
Zfp608 A T 18: 54,895,214 probably benign Het
Other mutations in Cldnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03110:Cldnd1 APN 16 58729596 missense possibly damaging 0.67
R0010:Cldnd1 UTSW 16 58731259 intron probably benign
R0097:Cldnd1 UTSW 16 58729715 missense possibly damaging 0.80
R0131:Cldnd1 UTSW 16 58732992 missense probably damaging 1.00
R1577:Cldnd1 UTSW 16 58732653 missense possibly damaging 0.79
R4745:Cldnd1 UTSW 16 58729643 missense probably benign 0.21
R5323:Cldnd1 UTSW 16 58729653 missense possibly damaging 0.77
R6226:Cldnd1 UTSW 16 58731300 critical splice acceptor site probably null
R6987:Cldnd1 UTSW 16 58731371 missense probably benign 0.09
R7337:Cldnd1 UTSW 16 58728959 intron probably null
R7476:Cldnd1 UTSW 16 58729544 missense probably damaging 0.96
Z1177:Cldnd1 UTSW 16 58729681 missense probably damaging 1.00
Posted On2012-11-20