Incidental Mutation 'R5451:Cwh43'
ID 434579
Institutional Source Beutler Lab
Gene Symbol Cwh43
Ensembl Gene ENSMUSG00000029154
Gene Name cell wall biogenesis 43 C-terminal homolog
Synonyms C130090K23Rik
MMRRC Submission 043016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5451 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 73563418-73610778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73589256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 447 (M447T)
Ref Sequence ENSEMBL: ENSMUSP00000069563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031040] [ENSMUST00000065543]
AlphaFold Q91YL7
Predicted Effect probably benign
Transcript: ENSMUST00000031040
AA Change: M533T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: M533T

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 probably benign
Transcript: ENSMUST00000065543
AA Change: M447T

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: M447T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135820
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,076 (GRCm39) F1142S possibly damaging Het
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Calhm2 T A 19: 47,121,314 (GRCm39) Y285F possibly damaging Het
Casr T C 16: 36,330,270 (GRCm39) T355A probably damaging Het
Ccnq T A 11: 78,642,115 (GRCm39) Q125L possibly damaging Het
Clca3a1 T C 3: 144,733,747 (GRCm39) Y63C probably damaging Het
Cntnap5a T C 1: 115,612,873 (GRCm39) S3P probably benign Het
Col27a1 G A 4: 63,143,476 (GRCm39) G388D probably damaging Het
Dnah7b G A 1: 46,281,179 (GRCm39) G2747S possibly damaging Het
Fbxo7 A G 10: 85,864,901 (GRCm39) S51G probably benign Het
Gabbr2 T A 4: 46,684,294 (GRCm39) Y660F probably benign Het
Galnt15 A G 14: 31,751,868 (GRCm39) E140G probably benign Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gsap T A 5: 21,422,445 (GRCm39) L138Q probably damaging Het
Igflr1 A G 7: 30,265,747 (GRCm39) N57S possibly damaging Het
Ighv13-2 A G 12: 114,321,473 (GRCm39) F89L probably damaging Het
Irf2bpl A G 12: 86,928,846 (GRCm39) V609A probably benign Het
Jkampl A G 6: 73,445,850 (GRCm39) V233A probably benign Het
Lingo1 T G 9: 56,527,711 (GRCm39) I293L probably damaging Het
Lrrc14 A G 15: 76,598,173 (GRCm39) D301G probably benign Het
Lsm2 T C 17: 35,201,185 (GRCm39) probably benign Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Micall1 T A 15: 79,011,104 (GRCm39) probably null Het
Mpp7 T C 18: 7,442,855 (GRCm39) D156G probably null Het
Mybbp1a A G 11: 72,338,939 (GRCm39) D822G probably damaging Het
Naip2 A G 13: 100,325,368 (GRCm39) V180A probably benign Het
Nol10 T A 12: 17,409,103 (GRCm39) Y159* probably null Het
Nphp3 A G 9: 103,919,221 (GRCm39) T1290A probably benign Het
Or12e1 T A 2: 87,022,796 (GRCm39) V255E probably damaging Het
Or5aq1b T C 2: 86,902,341 (GRCm39) I46V probably damaging Het
Or7g20 T C 9: 18,946,787 (GRCm39) Y123H probably damaging Het
Pcsk5 T A 19: 17,440,720 (GRCm39) Y1290F possibly damaging Het
Rab42 T C 4: 132,029,827 (GRCm39) N132D probably benign Het
Rfx3 T G 19: 27,827,359 (GRCm39) T76P probably damaging Het
Rps13-ps2 G T 7: 88,180,036 (GRCm39) noncoding transcript Het
Slc12a3 A G 8: 95,083,655 (GRCm39) D894G possibly damaging Het
Slc25a15 G A 8: 22,879,983 (GRCm39) T54I probably benign Het
Slco1c1 A T 6: 141,505,604 (GRCm39) Q461L probably benign Het
Slfn5 T G 11: 82,850,912 (GRCm39) I403R probably damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Tbc1d32 T A 10: 56,071,571 (GRCm39) T318S possibly damaging Het
Tiam2 G T 17: 3,479,271 (GRCm39) R668M probably damaging Het
Tle7 A T 8: 110,836,503 (GRCm39) I160F probably damaging Het
Trgj4 G T 13: 19,526,335 (GRCm39) probably benign Het
Trim9 A G 12: 70,393,603 (GRCm39) S114P probably benign Het
Trp53i11 T C 2: 93,030,200 (GRCm39) L169P possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r190-ps A G 13: 22,328,901 (GRCm39) noncoding transcript Het
Other mutations in Cwh43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Cwh43 APN 5 73,578,832 (GRCm39) missense possibly damaging 0.93
IGL02225:Cwh43 APN 5 73,578,910 (GRCm39) missense probably damaging 1.00
R0115:Cwh43 UTSW 5 73,575,370 (GRCm39) missense probably damaging 1.00
R0423:Cwh43 UTSW 5 73,574,085 (GRCm39) missense probably benign 0.00
R0481:Cwh43 UTSW 5 73,575,370 (GRCm39) missense probably damaging 1.00
R0786:Cwh43 UTSW 5 73,565,526 (GRCm39) nonsense probably null
R1635:Cwh43 UTSW 5 73,591,653 (GRCm39) missense probably damaging 1.00
R1729:Cwh43 UTSW 5 73,565,561 (GRCm39) missense probably damaging 0.99
R1784:Cwh43 UTSW 5 73,565,561 (GRCm39) missense probably damaging 0.99
R1927:Cwh43 UTSW 5 73,610,417 (GRCm39) missense probably benign 0.27
R2070:Cwh43 UTSW 5 73,578,860 (GRCm39) missense probably damaging 1.00
R2104:Cwh43 UTSW 5 73,578,873 (GRCm39) missense possibly damaging 0.93
R2136:Cwh43 UTSW 5 73,572,397 (GRCm39) missense probably benign 0.01
R2517:Cwh43 UTSW 5 73,578,886 (GRCm39) missense probably benign 0.04
R2964:Cwh43 UTSW 5 73,565,679 (GRCm39) splice site probably benign
R3713:Cwh43 UTSW 5 73,595,835 (GRCm39) missense probably damaging 0.99
R4291:Cwh43 UTSW 5 73,569,275 (GRCm39) missense probably benign 0.35
R4333:Cwh43 UTSW 5 73,598,722 (GRCm39) missense probably damaging 0.99
R4869:Cwh43 UTSW 5 73,586,016 (GRCm39) critical splice donor site probably null
R5071:Cwh43 UTSW 5 73,581,256 (GRCm39) critical splice acceptor site probably null
R5309:Cwh43 UTSW 5 73,574,110 (GRCm39) missense probably benign
R5471:Cwh43 UTSW 5 73,565,574 (GRCm39) nonsense probably null
R5601:Cwh43 UTSW 5 73,575,283 (GRCm39) splice site probably null
R5652:Cwh43 UTSW 5 73,575,484 (GRCm39) missense probably damaging 0.99
R5820:Cwh43 UTSW 5 73,585,975 (GRCm39) nonsense probably null
R5823:Cwh43 UTSW 5 73,569,213 (GRCm39) missense probably benign 0.27
R6351:Cwh43 UTSW 5 73,569,248 (GRCm39) missense possibly damaging 0.55
R7467:Cwh43 UTSW 5 73,569,311 (GRCm39) missense probably damaging 0.99
R7583:Cwh43 UTSW 5 73,591,632 (GRCm39) missense probably benign 0.00
R7788:Cwh43 UTSW 5 73,572,377 (GRCm39) missense probably damaging 1.00
R8070:Cwh43 UTSW 5 73,578,806 (GRCm39) missense possibly damaging 0.64
R8282:Cwh43 UTSW 5 73,591,572 (GRCm39) missense probably damaging 0.97
R8471:Cwh43 UTSW 5 73,591,644 (GRCm39) missense probably damaging 1.00
R8865:Cwh43 UTSW 5 73,598,702 (GRCm39) missense probably benign 0.05
R9462:Cwh43 UTSW 5 73,591,695 (GRCm39) missense probably benign 0.00
R9638:Cwh43 UTSW 5 73,565,486 (GRCm39) missense possibly damaging 0.91
R9651:Cwh43 UTSW 5 73,572,340 (GRCm39) missense probably benign 0.00
R9652:Cwh43 UTSW 5 73,572,340 (GRCm39) missense probably benign 0.00
R9660:Cwh43 UTSW 5 73,565,629 (GRCm39) missense possibly damaging 0.74
R9728:Cwh43 UTSW 5 73,565,629 (GRCm39) missense possibly damaging 0.74
Z1177:Cwh43 UTSW 5 73,587,813 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCTTTGAATGCACTTCC -3'
(R):5'- ATATGGCCATTTGCATCCCAG -3'

Sequencing Primer
(F):5'- CTTTGTCTCATCTTCATGACAGCCTG -3'
(R):5'- GCAACACAGGGACAATAATCTAAG -3'
Posted On 2016-10-06