Incidental Mutation 'IGL02200:Clca3b'
ID284151
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: 0.058) question?
Stock #IGL02200
Quality Score
Status
Chromosome3
Chromosomal Location144822623-144849357 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144841429 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 316 (S316P)
Ref Sequence ENSEMBL: ENSMUSP00000124581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159989]
Predicted Effect probably damaging
Transcript: ENSMUST00000159989
AA Change: S316P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: S316P

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
Abca4 A G 3: 122,069,014 E207G probably benign Het
Ahi1 T C 10: 20,981,314 probably benign Het
Ankrd26 A T 6: 118,559,341 V97E probably damaging Het
Cadps2 T C 6: 23,385,528 Y736C probably damaging Het
Cdon T C 9: 35,483,109 W884R probably benign Het
Cflar A G 1: 58,752,669 D380G probably damaging Het
Clca3a1 A T 3: 144,751,929 probably benign Het
Crispld1 T C 1: 17,750,333 probably benign Het
Diaph1 G A 18: 37,890,682 P701L unknown Het
Dip2b T C 15: 100,151,202 L159P possibly damaging Het
Dock1 A G 7: 134,744,271 T181A probably benign Het
Ear1 C T 14: 43,819,252 R53H probably benign Het
Gm1840 A G 8: 5,639,968 noncoding transcript Het
Gm2663 A G 6: 40,996,013 V220A probably benign Het
Grik1 A G 16: 87,940,565 F614L probably damaging Het
Htr2a T A 14: 74,706,165 I395N probably damaging Het
Itsn2 A G 12: 4,636,632 D528G probably damaging Het
Kdr T C 5: 75,950,102 probably benign Het
M6pr A G 6: 122,315,068 M120V probably benign Het
Mettl13 G A 1: 162,538,823 probably benign Het
Mtfmt A G 9: 65,448,781 probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Ogfrl1 C T 1: 23,370,069 V359I probably benign Het
Olfr583 C T 7: 103,051,793 T165I probably benign Het
Ovch2 T C 7: 107,794,823 Y141C probably damaging Het
Pwwp2a A C 11: 43,706,128 I432L possibly damaging Het
Ryr3 C T 2: 112,849,510 V1245M probably damaging Het
Sis T C 3: 72,943,604 H587R probably damaging Het
Snrnp40 A G 4: 130,360,221 K6E probably damaging Het
Snx13 A T 12: 35,086,885 D115V probably damaging Het
Sohlh2 C A 3: 55,190,556 T143K probably damaging Het
Spag4 T C 2: 156,066,597 L55S probably benign Het
Tcrg-C2 T C 13: 19,307,351 probably benign Het
Vmn2r77 T C 7: 86,801,979 S358P 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
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 On2015-04-16