Incidental Mutation 'R0786:Cwh43'
ID 76850
Institutional Source Beutler Lab
Gene Symbol Cwh43
Ensembl Gene ENSMUSG00000029154
Gene Name cell wall biogenesis 43 C-terminal homolog
Synonyms C130090K23Rik
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 73563418-73610778 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 73565526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 30 (Y30*)
Ref Sequence ENSEMBL: ENSMUSP00000069563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031040] [ENSMUST00000065543]
AlphaFold Q91YL7
Predicted Effect probably null
Transcript: ENSMUST00000031040
AA Change: Y30*
SMART Domains Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: Y30*

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 null
Transcript: ENSMUST00000065543
AA Change: Y30*
SMART Domains Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: Y30*

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging 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
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
R5451:Cwh43 UTSW 5 73,589,256 (GRCm39) missense probably benign 0.14
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'- AGACTCACAACAGCCTGTCTGTCC -3'
(R):5'- AGGCAACAGTTCCTCGGTCAATG -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- TCCTCGGTCAATGAAAGGTC -3'
Posted On 2013-10-16