Incidental Mutation 'IGL03331:Clca3b'
ID 416861
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: 0.059) question?
Stock # IGL03331
Quality Score
Status
Chromosome 3
Chromosomal Location 144528384-144555063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144533724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 550 (E550D)
Ref Sequence ENSEMBL: ENSMUSP00000124581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159989]
AlphaFold E9PUL3
Predicted Effect probably benign
Transcript: ENSMUST00000159989
AA Change: E550D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: E550D

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,751,305 (GRCm39) D361Y probably damaging Het
Arhgap10 T C 8: 78,146,711 (GRCm39) N231S probably damaging Het
Asb15 A T 6: 24,556,523 (GRCm39) D6V possibly damaging Het
C1qb G A 4: 136,607,604 (GRCm39) A253V probably damaging Het
Ccdc178 G T 18: 21,944,640 (GRCm39) probably null Het
Chst15 A G 7: 131,864,442 (GRCm39) L387P probably damaging Het
Dnah5 A G 15: 28,420,086 (GRCm39) K3795E probably damaging Het
Dppa2 T C 16: 48,134,242 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,545,149 (GRCm39) Y220C probably damaging Het
Fkbpl C T 17: 34,864,661 (GRCm39) T143I probably damaging Het
Gbe1 T G 16: 70,230,466 (GRCm39) Y155D probably damaging Het
Gm1979 T C 5: 26,207,008 (GRCm39) K69R probably damaging Het
Gna14 G A 19: 16,586,832 (GRCm39) V336M probably damaging Het
Gpr37 A G 6: 25,669,728 (GRCm39) V372A probably benign Het
H2bc12 T C 13: 22,220,443 (GRCm39) probably benign Het
Herc2 C A 7: 55,785,015 (GRCm39) probably benign Het
Krt20 T C 11: 99,326,256 (GRCm39) probably null Het
Lman1 T C 18: 66,126,275 (GRCm39) T284A probably benign Het
Matn2 A T 15: 34,345,503 (GRCm39) D170V probably damaging Het
Morc1 C A 16: 48,432,731 (GRCm39) probably benign Het
Necap1 T A 6: 122,857,376 (GRCm39) S34T probably benign Het
Nt5c3b T C 11: 100,327,041 (GRCm39) Y85C probably damaging Het
Or2t6 C A 14: 14,176,017 (GRCm38) A22S probably benign Het
Or5b102 T A 19: 13,041,231 (GRCm39) L152H probably damaging Het
Papln A G 12: 83,830,435 (GRCm39) M1016V probably benign Het
Pld1 T C 3: 28,139,994 (GRCm39) F605L probably damaging Het
Rbms2 T A 10: 127,969,504 (GRCm39) probably benign Het
Rps6kb1 A T 11: 86,423,656 (GRCm39) V108E probably damaging Het
Scap T C 9: 110,209,304 (GRCm39) probably null Het
Serpina1f T C 12: 103,657,150 (GRCm39) I307M probably benign Het
Tchh A G 3: 93,350,725 (GRCm39) D55G probably damaging Het
Tnfaip3 G T 10: 18,887,349 (GRCm39) Q59K possibly damaging Het
Vcan A G 13: 89,810,051 (GRCm39) C2287R probably damaging Het
Vmn2r6 T C 3: 64,445,428 (GRCm39) N766D probably damaging Het
Other mutations in Clca3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Clca3b APN 3 144,542,393 (GRCm39) missense probably damaging 0.96
IGL00425:Clca3b APN 3 144,542,342 (GRCm39) missense probably benign 0.14
IGL00725:Clca3b APN 3 144,544,923 (GRCm39) missense probably benign 0.01
IGL00898:Clca3b APN 3 144,550,389 (GRCm39) splice site probably benign
IGL00953:Clca3b APN 3 144,552,972 (GRCm39) nonsense probably null
IGL01089:Clca3b APN 3 144,529,283 (GRCm39) missense probably benign
IGL01376:Clca3b APN 3 144,531,812 (GRCm39) missense possibly damaging 0.60
IGL01996:Clca3b APN 3 144,554,924 (GRCm39) missense probably benign 0.04
IGL02022:Clca3b APN 3 144,547,171 (GRCm39) critical splice donor site probably null
IGL02200:Clca3b APN 3 144,547,190 (GRCm39) missense probably damaging 1.00
IGL02314:Clca3b APN 3 144,533,903 (GRCm39) splice site probably benign
IGL02331:Clca3b APN 3 144,547,167 (GRCm39) splice site probably benign
IGL02429:Clca3b APN 3 144,533,896 (GRCm39) missense probably damaging 1.00
IGL02868:Clca3b APN 3 144,533,325 (GRCm39) missense probably damaging 1.00
IGL03095:Clca3b APN 3 144,552,671 (GRCm39) nonsense probably null
R0242:Clca3b UTSW 3 144,547,226 (GRCm39) missense probably benign 0.00
R0242:Clca3b UTSW 3 144,547,226 (GRCm39) missense probably benign 0.00
R0506:Clca3b UTSW 3 144,528,627 (GRCm39) unclassified probably benign
R0524:Clca3b UTSW 3 144,531,082 (GRCm39) missense probably benign
R0637:Clca3b UTSW 3 144,533,701 (GRCm39) missense probably benign 0.03
R1577:Clca3b UTSW 3 144,529,280 (GRCm39) missense probably damaging 1.00
R1641:Clca3b UTSW 3 144,529,274 (GRCm39) missense possibly damaging 0.53
R1680:Clca3b UTSW 3 144,543,585 (GRCm39) missense probably damaging 1.00
R2240:Clca3b UTSW 3 144,531,696 (GRCm39) missense probably benign 0.22
R2248:Clca3b UTSW 3 144,530,980 (GRCm39) missense probably benign 0.01
R2259:Clca3b UTSW 3 144,552,142 (GRCm39) missense possibly damaging 0.80
R2920:Clca3b UTSW 3 144,552,692 (GRCm39) missense probably benign 0.01
R2920:Clca3b UTSW 3 144,543,614 (GRCm39) missense probably benign 0.31
R4355:Clca3b UTSW 3 144,531,219 (GRCm39) splice site probably null
R4691:Clca3b UTSW 3 144,544,853 (GRCm39) missense probably benign 0.02
R4828:Clca3b UTSW 3 144,550,273 (GRCm39) missense probably benign 0.02
R4845:Clca3b UTSW 3 144,531,031 (GRCm39) missense probably benign
R5182:Clca3b UTSW 3 144,533,776 (GRCm39) missense probably damaging 0.99
R5396:Clca3b UTSW 3 144,552,932 (GRCm39) missense probably damaging 0.99
R5429:Clca3b UTSW 3 144,552,220 (GRCm39) missense probably damaging 1.00
R5572:Clca3b UTSW 3 144,533,070 (GRCm39) missense probably damaging 1.00
R5657:Clca3b UTSW 3 144,533,144 (GRCm39) missense probably benign 0.25
R5845:Clca3b UTSW 3 144,531,077 (GRCm39) missense possibly damaging 0.46
R6505:Clca3b UTSW 3 144,531,020 (GRCm39) missense probably benign 0.18
R6677:Clca3b UTSW 3 144,529,145 (GRCm39) missense probably benign 0.13
R6707:Clca3b UTSW 3 144,550,288 (GRCm39) missense probably benign 0.00
R7001:Clca3b UTSW 3 144,533,733 (GRCm39) missense possibly damaging 0.48
R7285:Clca3b UTSW 3 144,543,519 (GRCm39) missense probably benign 0.00
R7323:Clca3b UTSW 3 144,531,681 (GRCm39) missense possibly damaging 0.60
R7324:Clca3b UTSW 3 144,547,181 (GRCm39) missense possibly damaging 0.81
R7334:Clca3b UTSW 3 144,542,417 (GRCm39) nonsense probably null
R7403:Clca3b UTSW 3 144,529,259 (GRCm39) missense probably benign 0.00
R7798:Clca3b UTSW 3 144,533,891 (GRCm39) missense probably damaging 1.00
R8008:Clca3b UTSW 3 144,550,370 (GRCm39) missense probably benign 0.44
R8132:Clca3b UTSW 3 144,552,935 (GRCm39) missense probably benign 0.13
R8181:Clca3b UTSW 3 144,544,898 (GRCm39) missense probably benign 0.00
R8305:Clca3b UTSW 3 144,531,698 (GRCm39) missense probably damaging 1.00
R8546:Clca3b UTSW 3 144,533,158 (GRCm39) missense probably damaging 0.99
R8716:Clca3b UTSW 3 144,550,355 (GRCm39) missense probably benign 0.14
R8804:Clca3b UTSW 3 144,544,898 (GRCm39) missense probably benign 0.00
R8966:Clca3b UTSW 3 144,544,872 (GRCm39) missense probably benign 0.27
R9003:Clca3b UTSW 3 144,533,072 (GRCm39) nonsense probably null
R9455:Clca3b UTSW 3 144,529,023 (GRCm39) missense unknown
R9470:Clca3b UTSW 3 144,543,456 (GRCm39) missense probably damaging 1.00
R9658:Clca3b UTSW 3 144,543,575 (GRCm39) missense probably damaging 0.98
R9760:Clca3b UTSW 3 144,552,610 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02