Incidental Mutation 'IGL00787:Cwh43'
ID12561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cwh43
Ensembl Gene ENSMUSG00000029154
Gene Namecell wall biogenesis 43 C-terminal homolog
SynonymsC130090K23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL00787
Quality Score
Status
Chromosome5
Chromosomal Location73406075-73453435 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73421489 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 280 (F280I)
Ref Sequence ENSEMBL: ENSMUSP00000069563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031040] [ENSMUST00000065543]
Predicted Effect probably benign
Transcript: ENSMUST00000031040
AA Change: F366I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: F366I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 91 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 191 213 N/A INTRINSIC
transmembrane domain 236 258 N/A INTRINSIC
transmembrane domain 275 297 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 351 368 N/A INTRINSIC
transmembrane domain 395 412 N/A INTRINSIC
Pfam:Exo_endo_phos 435 580 5.1e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000065543
AA Change: F280I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: F280I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 91 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 191 213 N/A INTRINSIC
low complexity region 242 257 N/A INTRINSIC
transmembrane domain 260 282 N/A INTRINSIC
transmembrane domain 309 326 N/A INTRINSIC
Pfam:Exo_endo_phos 345 494 4.7e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 T A 3: 98,162,170 S440T probably benign Het
Adgrl3 T G 5: 81,693,554 N827K probably damaging Het
Ces1c A T 8: 93,120,366 S87T possibly damaging Het
Ctdp1 C A 18: 80,458,692 probably null Het
Dcaf13 T A 15: 39,143,632 Y320* probably null Het
Dgkh A C 14: 78,618,514 probably benign Het
Dnah1 A T 14: 31,300,063 V1161E possibly damaging Het
Gabrg2 T C 11: 41,912,522 R399G probably benign Het
Gpr75 T A 11: 30,892,290 F398L probably benign Het
Kif24 G A 4: 41,397,583 T525I probably damaging Het
Kif5b A T 18: 6,226,973 probably benign Het
Klc2 T G 19: 5,111,662 E300A probably benign Het
Nol6 C T 4: 41,122,198 V171I probably benign Het
Nop2 C T 6: 125,133,546 S45L probably damaging Het
Polr3b A G 10: 84,676,990 T579A probably benign Het
Terb1 A T 8: 104,451,807 S662T probably benign Het
Ugt2b37 T A 5: 87,242,429 Y386F probably benign Het
Other mutations in Cwh43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Cwh43 APN 5 73421567 missense probably damaging 1.00
R0115:Cwh43 UTSW 5 73418027 missense probably damaging 1.00
R0423:Cwh43 UTSW 5 73416742 missense probably benign 0.00
R0481:Cwh43 UTSW 5 73418027 missense probably damaging 1.00
R0786:Cwh43 UTSW 5 73408183 nonsense probably null
R1635:Cwh43 UTSW 5 73434310 missense probably damaging 1.00
R1729:Cwh43 UTSW 5 73408218 missense probably damaging 0.99
R1784:Cwh43 UTSW 5 73408218 missense probably damaging 0.99
R1927:Cwh43 UTSW 5 73453074 missense probably benign 0.27
R2070:Cwh43 UTSW 5 73421517 missense probably damaging 1.00
R2104:Cwh43 UTSW 5 73421530 missense possibly damaging 0.93
R2136:Cwh43 UTSW 5 73415054 missense probably benign 0.01
R2517:Cwh43 UTSW 5 73421543 missense probably benign 0.04
R2964:Cwh43 UTSW 5 73408336 splice site probably benign
R3713:Cwh43 UTSW 5 73438492 missense probably damaging 0.99
R4291:Cwh43 UTSW 5 73411932 missense probably benign 0.35
R4333:Cwh43 UTSW 5 73441379 missense probably damaging 0.99
R4869:Cwh43 UTSW 5 73428673 critical splice donor site probably null
R5071:Cwh43 UTSW 5 73423913 critical splice acceptor site probably null
R5309:Cwh43 UTSW 5 73416767 missense probably benign
R5451:Cwh43 UTSW 5 73431913 missense probably benign 0.14
R5471:Cwh43 UTSW 5 73408231 nonsense probably null
R5601:Cwh43 UTSW 5 73417940 splice site probably null
R5652:Cwh43 UTSW 5 73418141 missense probably damaging 0.99
R5820:Cwh43 UTSW 5 73428632 nonsense probably null
R5823:Cwh43 UTSW 5 73411870 missense probably benign 0.27
R6351:Cwh43 UTSW 5 73411905 missense possibly damaging 0.55
Posted On2012-12-06