Incidental Mutation 'IGL01089:Clca3b'
ID50724
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: 0.066) question?
Stock #IGL01089
Quality Score
Status
Chromosome3
Chromosomal Location144822623-144849357 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 144823522 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 797 (V797D)
Ref Sequence ENSEMBL: ENSMUSP00000124581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000159989]
Predicted Effect probably benign
Transcript: ENSMUST00000029929
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 306 478 1.5e-21 SMART
FN3 758 857 5.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159989
AA Change: V797D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: V797D

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,337 E180G possibly damaging Het
Actr8 T C 14: 29,988,335 L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 P592S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 probably null Het
Asnsd1 G A 1: 53,348,277 P64S probably damaging Het
Bmt2 A G 6: 13,663,271 M76T probably damaging Het
Cog2 T C 8: 124,545,243 S499P probably benign Het
Cyp27a1 A T 1: 74,731,938 Y94F possibly damaging Het
D430042O09Rik A G 7: 125,795,313 E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 S1765P probably benign Het
Fam149a A G 8: 45,348,527 L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 A695V possibly damaging Het
Fat1 T A 8: 45,017,857 V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 N361H probably damaging Het
Gm1110 T C 9: 26,881,860 N540S probably benign Het
Kcns3 T A 12: 11,091,571 T376S possibly damaging Het
Krt32 A G 11: 100,087,779 S150P probably benign Het
Lrtm2 C T 6: 119,320,792 R96Q possibly damaging Het
Mctp1 A G 13: 77,020,798 E838G probably damaging Het
Mios T C 6: 8,234,363 probably null Het
Olfr338 A T 2: 36,377,166 Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 probably benign Het
Plaa A G 4: 94,574,047 V531A probably benign Het
Psmb2 A G 4: 126,684,206 Y59C probably damaging Het
Ptprg A G 14: 12,215,286 H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 V926D possibly damaging Het
Rgma G T 7: 73,409,714 V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 I1227K probably damaging Het
Slc8a1 T C 17: 81,648,281 T443A probably damaging Het
Slc8a1 A G 17: 81,388,881 V896A probably damaging Het
Taf2 T C 15: 55,016,581 M1120V probably benign Het
Ugt2b34 C T 5: 86,906,326 V199I probably benign Het
Unc5c C A 3: 141,818,202 probably benign Het
Usp37 G A 1: 74,493,046 R63* probably null 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
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
Posted On2013-06-21