Incidental Mutation 'IGL02868:Clca3b'
ID362393
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 #IGL02868
Quality Score
Status
Chromosome3
Chromosomal Location144822623-144849357 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 144827564 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 569 (G569V)
Ref Sequence ENSEMBL: ENSMUSP00000124581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159989]
Predicted Effect probably damaging
Transcript: ENSMUST00000159989
AA Change: G569V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: G569V

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap4 A G X: 73,900,402 I224T probably benign Het
Atp12a A G 14: 56,384,182 D758G probably damaging Het
Dlgap4 G A 2: 156,700,896 R73Q probably damaging Het
Efcc1 C T 6: 87,751,761 probably benign Het
Eno3 T A 11: 70,662,000 V369E probably damaging Het
Espl1 T A 15: 102,313,990 C1022* probably null Het
Gm884 A T 11: 103,615,139 L2001H probably benign Het
Grhl3 T C 4: 135,554,604 D319G probably damaging Het
Huwe1 G A X: 151,908,833 R2538H possibly damaging Het
Ms4a4d T A 19: 11,550,282 I51N probably damaging Het
Mtmr9 T C 14: 63,524,139 N522S probably benign Het
Nfe2l1 A G 11: 96,820,140 I133T probably damaging Het
Ninl A G 2: 150,937,054 Y1296H probably benign Het
Nipal3 A G 4: 135,466,871 S284P probably damaging Het
Olfr1009 A T 2: 85,721,575 T57S probably benign Het
Olfr1286 A T 2: 111,420,493 F153I possibly damaging Het
Pramel5 G T 4: 144,271,352 N440K probably benign Het
Rabep1 T C 11: 70,874,746 V12A probably benign Het
Rbm5 G T 9: 107,749,700 probably benign Het
Ric3 T C 7: 109,054,419 E155G probably damaging Het
Slc12a7 T A 13: 73,806,388 M897K probably benign Het
Slc39a8 G T 3: 135,856,026 A169S probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Synrg G A 11: 83,987,050 probably benign Het
Tas2r107 T C 6: 131,659,286 T267A probably benign Het
Tead3 G T 17: 28,333,095 Y354* probably null Het
Trim3 T C 7: 105,613,032 K579R possibly damaging Het
Uaca A T 9: 60,863,637 K362M probably damaging Het
Vmn2r94 A G 17: 18,244,054 I658T possibly damaging Het
Vps13b C T 15: 35,884,519 P3113S probably benign Het
Zfp251 A G 15: 76,854,534 S115P probably damaging Het
Zfp683 G A 4: 134,055,866 V214M probably benign Het
Other mutations in Clca3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Clca3b APN 3 144836632 missense probably damaging 0.96
IGL00425:Clca3b APN 3 144836581 missense probably benign 0.14
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
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 On2015-12-18