Incidental Mutation 'IGL02157:Clmn'
ID282270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clmn
Ensembl Gene ENSMUSG00000021097
Gene Namecalmin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02157
Quality Score
Status
Chromosome12
Chromosomal Location104763117-104865076 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104781918 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 457 (T457A)
Ref Sequence ENSEMBL: ENSMUSP00000152070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109936] [ENSMUST00000109937] [ENSMUST00000222323] [ENSMUST00000223103] [ENSMUST00000223177] [ENSMUST00000223342]
Predicted Effect probably benign
Transcript: ENSMUST00000109936
AA Change: T457A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: T457A

DomainStartEndE-ValueType
CH 34 137 2.29e-19 SMART
low complexity region 144 168 N/A INTRINSIC
CH 189 286 9.9e-15 SMART
low complexity region 471 482 N/A INTRINSIC
low complexity region 633 650 N/A INTRINSIC
low complexity region 679 691 N/A INTRINSIC
low complexity region 777 801 N/A INTRINSIC
low complexity region 869 887 N/A INTRINSIC
low complexity region 949 965 N/A INTRINSIC
transmembrane domain 996 1013 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109937
AA Change: T457A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: T457A

DomainStartEndE-ValueType
CH 34 137 2.29e-19 SMART
low complexity region 144 168 N/A INTRINSIC
CH 189 286 9.9e-15 SMART
low complexity region 471 482 N/A INTRINSIC
low complexity region 633 650 N/A INTRINSIC
low complexity region 679 691 N/A INTRINSIC
low complexity region 777 801 N/A INTRINSIC
low complexity region 869 887 N/A INTRINSIC
low complexity region 949 965 N/A INTRINSIC
transmembrane domain 1027 1044 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222412
Predicted Effect probably benign
Transcript: ENSMUST00000223103
AA Change: T457A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000223177
AA Change: T457A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000223342
AA Change: T457A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,805,487 probably benign Het
Amotl1 A T 9: 14,571,715 probably benign Het
Amph A T 13: 19,104,231 T297S possibly damaging Het
Arhgap31 A G 16: 38,623,901 V198A probably damaging Het
Bop1 T C 15: 76,455,572 D216G possibly damaging Het
Cdh13 T C 8: 118,505,671 I38T possibly damaging Het
Clstn2 A C 9: 97,541,875 M279R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Fam83h A T 15: 76,005,055 V208E probably damaging Het
Fer A G 17: 64,138,899 N785S probably benign Het
Fnip1 T C 11: 54,487,763 L225P probably damaging Het
Gbp11 C T 5: 105,327,508 V325M possibly damaging Het
Glis1 A G 4: 107,627,561 T418A probably benign Het
Gm13088 A T 4: 143,654,377 C359S probably damaging Het
Hook2 C T 8: 85,001,150 probably benign Het
Hoxa6 C A 6: 52,208,191 C145F possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mbd5 T C 2: 49,278,975 V1156A probably benign Het
Mettl7b T G 10: 128,960,617 T108P possibly damaging Het
Mon2 G A 10: 123,013,472 P1308S probably damaging Het
Mta2 T A 19: 8,947,249 probably benign Het
Nup188 T A 2: 30,329,373 L867* probably null Het
Oca2 G A 7: 56,324,797 probably null Het
Olfr535 T A 7: 140,492,934 C99S probably damaging Het
Olfr794 A G 10: 129,571,150 E165G probably damaging Het
Olfr857 T A 9: 19,713,289 V154E probably benign Het
Plekhh2 A G 17: 84,566,942 probably benign Het
Rhbdd3 T C 11: 5,105,424 probably benign Het
Timeless T A 10: 128,242,386 V255E probably benign Het
Trh A T 6: 92,242,967 S123T probably benign Het
Ugdh C T 5: 65,422,692 A252T probably damaging Het
Zfp619 A G 7: 39,534,864 Y106C probably damaging Het
Zic5 G A 14: 122,459,512 P564S unknown Het
Other mutations in Clmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Clmn APN 12 104774551 critical splice acceptor site probably null
IGL01509:Clmn APN 12 104780903 missense probably benign 0.00
IGL01530:Clmn APN 12 104791856 missense probably damaging 1.00
IGL01768:Clmn APN 12 104781719 missense probably damaging 0.99
IGL01779:Clmn APN 12 104782140 missense probably benign 0.04
IGL02139:Clmn APN 12 104781099 missense probably benign 0.01
IGL02519:Clmn APN 12 104791853 missense probably damaging 1.00
IGL02820:Clmn APN 12 104773234 missense probably damaging 0.99
IGL03036:Clmn APN 12 104774523 missense probably damaging 0.97
R0255:Clmn UTSW 12 104781764 missense probably benign
R0478:Clmn UTSW 12 104785491 missense probably damaging 0.99
R0739:Clmn UTSW 12 104781017 missense possibly damaging 0.55
R0761:Clmn UTSW 12 104781558 missense probably damaging 0.99
R0834:Clmn UTSW 12 104771826 missense probably damaging 1.00
R0834:Clmn UTSW 12 104771827 missense probably damaging 1.00
R0864:Clmn UTSW 12 104790015 missense possibly damaging 0.94
R1569:Clmn UTSW 12 104781081 missense probably damaging 1.00
R1638:Clmn UTSW 12 104782022 missense probably benign 0.13
R1940:Clmn UTSW 12 104790102 missense probably damaging 1.00
R1974:Clmn UTSW 12 104791862 missense probably damaging 1.00
R2113:Clmn UTSW 12 104780808 missense probably benign
R4815:Clmn UTSW 12 104785566 missense probably damaging 1.00
R4863:Clmn UTSW 12 104797094 missense probably damaging 1.00
R4883:Clmn UTSW 12 104782048 missense probably benign 0.04
R5577:Clmn UTSW 12 104777070 missense probably damaging 1.00
R5853:Clmn UTSW 12 104783902 splice site probably null
R5867:Clmn UTSW 12 104781755 missense probably damaging 0.98
R6041:Clmn UTSW 12 104781872 missense probably benign 0.00
R6093:Clmn UTSW 12 104771956 missense probably benign 0.00
R6233:Clmn UTSW 12 104785455 missense probably damaging 1.00
R6239:Clmn UTSW 12 104780845 missense probably benign 0.00
R6628:Clmn UTSW 12 104773786 missense probably damaging 1.00
R6771:Clmn UTSW 12 104773782 missense probably benign 0.04
R7448:Clmn UTSW 12 104785428 missense possibly damaging 0.90
R7633:Clmn UTSW 12 104782112 missense probably benign
R8901:Clmn UTSW 12 104780952 missense probably benign 0.20
R8937:Clmn UTSW 12 104797082 missense probably damaging 1.00
X0028:Clmn UTSW 12 104785402 missense probably benign 0.11
Z1177:Clmn UTSW 12 104781376 missense probably benign 0.27
Posted On2015-04-16