Incidental Mutation 'IGL01089:Clca3b'
ID 50724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clca3b
Ensembl Gene ENSMUSG00000037033
Gene Name chloride channel accessory 3B
Synonyms Clca4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01089
Quality Score
Status
Chromosome 3
Chromosomal Location 144822623-144849357 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144823522 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold E9PUL3
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 (GRCm38) E180G possibly damaging Het
Actr8 T C 14: 29,988,335 (GRCm38) L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 (GRCm38) P592S probably damaging Het
Aen G A 7: 78,907,302 (GRCm38) M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 (GRCm38) probably null Het
Asnsd1 G A 1: 53,348,277 (GRCm38) P64S probably damaging Het
Bmt2 A G 6: 13,663,271 (GRCm38) M76T probably damaging Het
Cog2 T C 8: 124,545,243 (GRCm38) S499P probably benign Het
Cyp27a1 A T 1: 74,731,938 (GRCm38) Y94F possibly damaging Het
D430042O09Rik A G 7: 125,795,313 (GRCm38) E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 (GRCm38) S1765P probably benign Het
Fam149a A G 8: 45,348,527 (GRCm38) L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 (GRCm38) A695V possibly damaging Het
Fat1 T A 8: 45,017,857 (GRCm38) V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 (GRCm38) N361H probably damaging Het
Gm1110 T C 9: 26,881,860 (GRCm38) N540S probably benign Het
Kcns3 T A 12: 11,091,571 (GRCm38) T376S possibly damaging Het
Krt32 A G 11: 100,087,779 (GRCm38) S150P probably benign Het
Lrtm2 C T 6: 119,320,792 (GRCm38) R96Q possibly damaging Het
Mctp1 A G 13: 77,020,798 (GRCm38) E838G probably damaging Het
Mios T C 6: 8,234,363 (GRCm38) probably null Het
Olfr338 A T 2: 36,377,166 (GRCm38) Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 (GRCm38) K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 (GRCm38) probably benign Het
Plaa A G 4: 94,574,047 (GRCm38) V531A probably benign Het
Psmb2 A G 4: 126,684,206 (GRCm38) Y59C probably damaging Het
Ptprg A G 14: 12,215,286 (GRCm38) H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 (GRCm38) V926D possibly damaging Het
Rgma G T 7: 73,409,714 (GRCm38) V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 (GRCm38) I1227K probably damaging Het
Slc8a1 A G 17: 81,388,881 (GRCm38) V896A probably damaging Het
Slc8a1 T C 17: 81,648,281 (GRCm38) T443A probably damaging Het
Taf2 T C 15: 55,016,581 (GRCm38) M1120V probably benign Het
Ugt2b34 C T 5: 86,906,326 (GRCm38) V199I probably benign Het
Unc5c C A 3: 141,818,202 (GRCm38) probably benign Het
Usp37 G A 1: 74,493,046 (GRCm38) R63* probably null Het
Other mutations in Clca3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Clca3b APN 3 144,836,632 (GRCm38) missense probably damaging 0.96
IGL00425:Clca3b APN 3 144,836,581 (GRCm38) missense probably benign 0.14
IGL00725:Clca3b APN 3 144,839,162 (GRCm38) missense probably benign 0.01
IGL00898:Clca3b APN 3 144,844,628 (GRCm38) splice site probably benign
IGL00953:Clca3b APN 3 144,847,211 (GRCm38) nonsense probably null
IGL01376:Clca3b APN 3 144,826,051 (GRCm38) missense possibly damaging 0.60
IGL01996:Clca3b APN 3 144,849,163 (GRCm38) missense probably benign 0.04
IGL02022:Clca3b APN 3 144,841,410 (GRCm38) critical splice donor site probably null
IGL02200:Clca3b APN 3 144,841,429 (GRCm38) missense probably damaging 1.00
IGL02314:Clca3b APN 3 144,828,142 (GRCm38) splice site probably benign
IGL02331:Clca3b APN 3 144,841,406 (GRCm38) splice site probably benign
IGL02429:Clca3b APN 3 144,828,135 (GRCm38) missense probably damaging 1.00
IGL02868:Clca3b APN 3 144,827,564 (GRCm38) missense probably damaging 1.00
IGL03095:Clca3b APN 3 144,846,910 (GRCm38) nonsense probably null
IGL03331:Clca3b APN 3 144,827,963 (GRCm38) missense probably benign
R0242:Clca3b UTSW 3 144,841,465 (GRCm38) missense probably benign 0.00
R0242:Clca3b UTSW 3 144,841,465 (GRCm38) missense probably benign 0.00
R0506:Clca3b UTSW 3 144,822,866 (GRCm38) unclassified probably benign
R0524:Clca3b UTSW 3 144,825,321 (GRCm38) missense probably benign
R0637:Clca3b UTSW 3 144,827,940 (GRCm38) missense probably benign 0.03
R1577:Clca3b UTSW 3 144,823,519 (GRCm38) missense probably damaging 1.00
R1641:Clca3b UTSW 3 144,823,513 (GRCm38) missense possibly damaging 0.53
R1680:Clca3b UTSW 3 144,837,824 (GRCm38) missense probably damaging 1.00
R2240:Clca3b UTSW 3 144,825,935 (GRCm38) missense probably benign 0.22
R2248:Clca3b UTSW 3 144,825,219 (GRCm38) missense probably benign 0.01
R2259:Clca3b UTSW 3 144,846,381 (GRCm38) missense possibly damaging 0.80
R2920:Clca3b UTSW 3 144,846,931 (GRCm38) missense probably benign 0.01
R2920:Clca3b UTSW 3 144,837,853 (GRCm38) missense probably benign 0.31
R4355:Clca3b UTSW 3 144,825,458 (GRCm38) splice site probably null
R4691:Clca3b UTSW 3 144,839,092 (GRCm38) missense probably benign 0.02
R4828:Clca3b UTSW 3 144,844,512 (GRCm38) missense probably benign 0.02
R4845:Clca3b UTSW 3 144,825,270 (GRCm38) missense probably benign
R5182:Clca3b UTSW 3 144,828,015 (GRCm38) missense probably damaging 0.99
R5396:Clca3b UTSW 3 144,847,171 (GRCm38) missense probably damaging 0.99
R5429:Clca3b UTSW 3 144,846,459 (GRCm38) missense probably damaging 1.00
R5572:Clca3b UTSW 3 144,827,309 (GRCm38) missense probably damaging 1.00
R5657:Clca3b UTSW 3 144,827,383 (GRCm38) missense probably benign 0.25
R5845:Clca3b UTSW 3 144,825,316 (GRCm38) missense possibly damaging 0.46
R6505:Clca3b UTSW 3 144,825,259 (GRCm38) missense probably benign 0.18
R6677:Clca3b UTSW 3 144,823,384 (GRCm38) missense probably benign 0.13
R6707:Clca3b UTSW 3 144,844,527 (GRCm38) missense probably benign 0.00
R7001:Clca3b UTSW 3 144,827,972 (GRCm38) missense possibly damaging 0.48
R7285:Clca3b UTSW 3 144,837,758 (GRCm38) missense probably benign 0.00
R7323:Clca3b UTSW 3 144,825,920 (GRCm38) missense possibly damaging 0.60
R7324:Clca3b UTSW 3 144,841,420 (GRCm38) missense possibly damaging 0.81
R7334:Clca3b UTSW 3 144,836,656 (GRCm38) nonsense probably null
R7403:Clca3b UTSW 3 144,823,498 (GRCm38) missense probably benign 0.00
R7798:Clca3b UTSW 3 144,828,130 (GRCm38) missense probably damaging 1.00
R8008:Clca3b UTSW 3 144,844,609 (GRCm38) missense probably benign 0.44
R8132:Clca3b UTSW 3 144,847,174 (GRCm38) missense probably benign 0.13
R8181:Clca3b UTSW 3 144,839,137 (GRCm38) missense probably benign 0.00
R8305:Clca3b UTSW 3 144,825,937 (GRCm38) missense probably damaging 1.00
R8546:Clca3b UTSW 3 144,827,397 (GRCm38) missense probably damaging 0.99
R8716:Clca3b UTSW 3 144,844,594 (GRCm38) missense probably benign 0.14
R8804:Clca3b UTSW 3 144,839,137 (GRCm38) missense probably benign 0.00
R8966:Clca3b UTSW 3 144,839,111 (GRCm38) missense probably benign 0.27
R9003:Clca3b UTSW 3 144,827,311 (GRCm38) nonsense probably null
R9455:Clca3b UTSW 3 144,823,262 (GRCm38) missense unknown
R9470:Clca3b UTSW 3 144,837,695 (GRCm38) missense probably damaging 1.00
R9658:Clca3b UTSW 3 144,837,814 (GRCm38) missense probably damaging 0.98
R9760:Clca3b UTSW 3 144,846,849 (GRCm38) missense probably benign 0.01
Posted On 2013-06-21