Incidental Mutation 'IGL00425:Clca3b'
ID13370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clca3b
Ensembl Gene ENSMUSG00000037033
Gene Namechloride channel accessory 3B
SynonymsClca4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL00425
Quality Score
Status
Chromosome3
Chromosomal Location144822623-144849357 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144836581 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 487 (S487P)
Ref Sequence ENSEMBL: ENSMUSP00000124581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159989]
Predicted Effect probably benign
Transcript: ENSMUST00000159989
AA Change: S487P

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: S487P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 306 481 6.22e-19 SMART
FN3 762 861 4.93e0 SMART
low complexity region 880 1025 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 C T 14: 66,074,049 probably null Het
Adgrb2 A T 4: 130,019,072 H1373L probably benign Het
Adgrf4 A G 17: 42,666,656 S599P probably damaging Het
Atp9b G A 18: 80,917,888 probably benign Het
Baiap2 A G 11: 119,982,010 T125A probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Cacna2d2 T C 9: 107,527,351 S1114P probably damaging Het
Ccdc159 T C 9: 21,929,469 S111P possibly damaging Het
Cd177 T A 7: 24,759,751 T78S possibly damaging Het
Cdk5rap2 A G 4: 70,403,472 probably null Het
Cdkl3 C A 11: 52,029,856 T462K probably benign Het
Chid1 A C 7: 141,522,696 L208R probably damaging Het
Col6a3 A T 1: 90,782,026 L1816Q unknown Het
Dido1 A G 2: 180,683,989 S469P probably benign Het
Dsg2 A G 18: 20,601,769 N935D probably benign Het
Fam126b A T 1: 58,540,253 probably benign Het
Fbxw2 A G 2: 34,812,949 I184T probably benign Het
Gbp9 T C 5: 105,105,754 I32V possibly damaging Het
Itgb8 G A 12: 119,189,826 T318I probably damaging Het
Kcnb2 A G 1: 15,711,012 S703G probably benign Het
Kif26b A T 1: 178,916,301 S1321C probably damaging Het
Klb A G 5: 65,372,374 N415S possibly damaging Het
Megf10 C A 18: 57,240,628 A166D probably damaging Het
Mrm3 T G 11: 76,244,493 S177A probably damaging Het
Nav3 A G 10: 109,703,507 F2011S probably benign Het
Nipal1 C T 5: 72,658,724 S30L probably benign Het
Ogdhl T C 14: 32,346,490 Y895H probably damaging Het
Pif1 A G 9: 65,593,277 N495D probably damaging Het
Prrc2c A T 1: 162,720,613 probably null Het
Pygl T C 12: 70,191,092 D724G probably damaging Het
Runx1t1 A G 4: 13,835,663 D40G probably benign Het
Serhl A T 15: 83,105,637 D192V possibly damaging Het
Slc12a5 C T 2: 164,983,281 A461V probably damaging Het
Tomm34 A T 2: 164,058,662 probably benign Het
Zfp54 A G 17: 21,430,297 N45D probably damaging Het
Other mutations in Clca3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Clca3b APN 3 144836632 missense probably damaging 0.96
IGL00725:Clca3b APN 3 144839162 missense probably benign 0.01
IGL00898:Clca3b APN 3 144844628 splice site probably benign
IGL00953:Clca3b APN 3 144847211 nonsense probably null
IGL01089:Clca3b APN 3 144823522 missense probably benign
IGL01376:Clca3b APN 3 144826051 missense possibly damaging 0.60
IGL01996:Clca3b APN 3 144849163 missense probably benign 0.04
IGL02022:Clca3b APN 3 144841410 critical splice donor site probably null
IGL02200:Clca3b APN 3 144841429 missense probably damaging 1.00
IGL02314:Clca3b APN 3 144828142 splice site probably benign
IGL02331:Clca3b APN 3 144841406 splice site probably benign
IGL02429:Clca3b APN 3 144828135 missense probably damaging 1.00
IGL02868:Clca3b APN 3 144827564 missense probably damaging 1.00
IGL03095:Clca3b APN 3 144846910 nonsense probably null
IGL03331:Clca3b APN 3 144827963 missense probably benign
R0242:Clca3b UTSW 3 144841465 missense probably benign 0.00
R0242:Clca3b UTSW 3 144841465 missense probably benign 0.00
R0506:Clca3b UTSW 3 144822866 unclassified probably benign
R0524:Clca3b UTSW 3 144825321 missense probably benign
R0637:Clca3b UTSW 3 144827940 missense probably benign 0.03
R1577:Clca3b UTSW 3 144823519 missense probably damaging 1.00
R1641:Clca3b UTSW 3 144823513 missense possibly damaging 0.53
R1680:Clca3b UTSW 3 144837824 missense probably damaging 1.00
R2240:Clca3b UTSW 3 144825935 missense probably benign 0.22
R2248:Clca3b UTSW 3 144825219 missense probably benign 0.01
R2259:Clca3b UTSW 3 144846381 missense possibly damaging 0.80
R2920:Clca3b UTSW 3 144837853 missense probably benign 0.31
R2920:Clca3b UTSW 3 144846931 missense probably benign 0.01
R4355:Clca3b UTSW 3 144825458 splice site probably null
R4691:Clca3b UTSW 3 144839092 missense probably benign 0.02
R4828:Clca3b UTSW 3 144844512 missense probably benign 0.02
R4845:Clca3b UTSW 3 144825270 missense probably benign
R5182:Clca3b UTSW 3 144828015 missense probably damaging 0.99
R5396:Clca3b UTSW 3 144847171 missense probably damaging 0.99
R5429:Clca3b UTSW 3 144846459 missense probably damaging 1.00
R5572:Clca3b UTSW 3 144827309 missense probably damaging 1.00
R5657:Clca3b UTSW 3 144827383 missense probably benign 0.25
R5845:Clca3b UTSW 3 144825316 missense possibly damaging 0.46
R6505:Clca3b UTSW 3 144825259 missense probably benign 0.18
R6677:Clca3b UTSW 3 144823384 missense probably benign 0.13
R6707:Clca3b UTSW 3 144844527 missense probably benign 0.00
R7001:Clca3b UTSW 3 144827972 missense possibly damaging 0.48
R7285:Clca3b UTSW 3 144837758 missense probably benign 0.00
R7323:Clca3b UTSW 3 144825920 missense possibly damaging 0.60
R7324:Clca3b UTSW 3 144841420 missense possibly damaging 0.81
R7334:Clca3b UTSW 3 144836656 nonsense probably null
R7403:Clca3b UTSW 3 144823498 missense probably benign 0.00
R7798:Clca3b UTSW 3 144828130 missense probably damaging 1.00
R8008:Clca3b UTSW 3 144844609 missense probably benign 0.44
R8132:Clca3b UTSW 3 144847174 missense probably benign 0.13
R8181:Clca3b UTSW 3 144839137 missense probably benign 0.00
R8305:Clca3b UTSW 3 144825937 missense probably damaging 1.00
R8546:Clca3b UTSW 3 144827397 missense probably damaging 0.99
R8716:Clca3b UTSW 3 144844594 missense probably benign 0.14
R8804:Clca3b UTSW 3 144839137 missense probably benign 0.00
Posted On2012-12-06