Incidental Mutation 'IGL01779:Clmn'
ID 153896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clmn
Ensembl Gene ENSMUSG00000021097
Gene Name calmin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01779
Quality Score
Status
Chromosome 12
Chromosomal Location 104763117-104865076 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104782140 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 383 (I383V)
Ref Sequence ENSEMBL: ENSMUSP00000152070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109936] [ENSMUST00000109937] [ENSMUST00000222323] [ENSMUST00000223103] [ENSMUST00000223177] [ENSMUST00000223342]
AlphaFold Q8C5W0
Predicted Effect probably benign
Transcript: ENSMUST00000109936
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: I383V

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: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: I383V

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: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000223177
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000223342
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,387,870 I119F probably damaging Het
Akt1 C T 12: 112,657,169 G286R probably damaging Het
Apof A G 10: 128,269,477 I167V probably benign Het
Arhgap15 A G 2: 44,065,045 E220G possibly damaging Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Col8a1 A T 16: 57,628,363 H261Q unknown Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Hs1bp3 C T 12: 8,341,945 T349I probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Il18bp A G 7: 102,016,795 Y59H possibly damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Stambpl1 A T 19: 34,240,027 H422L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign 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
IGL02139:Clmn APN 12 104781099 missense probably benign 0.01
IGL02157:Clmn APN 12 104781918 missense probably benign 0.00
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
R9654:Clmn UTSW 12 104781934 missense probably damaging 0.99
X0028:Clmn UTSW 12 104785402 missense probably benign 0.11
Z1177:Clmn UTSW 12 104781376 missense probably benign 0.27
Posted On 2014-02-04