Incidental Mutation 'R9651:Cwh43'
ID 727091
Institutional Source Beutler Lab
Gene Symbol Cwh43
Ensembl Gene ENSMUSG00000029154
Gene Name cell wall biogenesis 43 C-terminal homolog
Synonyms C130090K23Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R9651 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 73563418-73610778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73572340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 193 (S193P)
Ref Sequence ENSEMBL: ENSMUSP00000031040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031040] [ENSMUST00000065543]
AlphaFold Q91YL7
Predicted Effect probably benign
Transcript: ENSMUST00000031040
AA Change: S193P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: S193P

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: S193P

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: S193P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T C 8: 106,436,604 (GRCm39) S267P Het
Abca13 C T 11: 9,243,741 (GRCm39) P1868L probably benign Het
Abca13 A G 11: 9,535,484 (GRCm39) S4703G probably benign Het
Abca9 A T 11: 110,006,319 (GRCm39) M1262K probably benign Het
Acta1 A T 8: 124,619,431 (GRCm39) Y220* probably null Het
Actr6 A G 10: 89,564,877 (GRCm39) V24A probably damaging Het
Adam30 T C 3: 98,069,936 (GRCm39) Y590H possibly damaging Het
Akap8l T C 17: 32,557,783 (GRCm39) N35D probably damaging Het
Ankle2 A G 5: 110,385,661 (GRCm39) I337V probably benign Het
Arid2 T C 15: 96,256,822 (GRCm39) V220A probably benign Het
Atp8b2 T C 3: 89,865,603 (GRCm39) D99G probably damaging Het
Baz1b A T 5: 135,252,022 (GRCm39) H940L probably benign Het
Cacna1d C T 14: 29,764,881 (GRCm39) V2017I probably benign Het
Ccn1 G T 3: 145,354,583 (GRCm39) N109K probably damaging Het
Cd226 T A 18: 89,265,395 (GRCm39) C224* probably null Het
Cdrt4 T A 11: 62,883,466 (GRCm39) I56N possibly damaging Het
Ces3b G T 8: 105,812,257 (GRCm39) A169S probably damaging Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Cryz A G 3: 154,327,765 (GRCm39) Q289R probably benign Het
Csn1s2b T A 5: 87,968,820 (GRCm39) M94K probably benign Het
Ctnnd1 T C 2: 84,439,899 (GRCm39) K804E possibly damaging Het
Dcstamp A T 15: 39,623,792 (GRCm39) D469V probably benign Het
Dffa A G 4: 149,190,674 (GRCm39) T68A probably damaging Het
Dnah2 C T 11: 69,341,824 (GRCm39) probably null Het
Dst T A 1: 34,219,458 (GRCm39) I1966N probably benign Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Epn3 C T 11: 94,383,687 (GRCm39) probably null Het
Fem1c A T 18: 46,657,674 (GRCm39) D13E Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fpr2 T A 17: 18,113,484 (GRCm39) I160N probably benign Het
Gabra1 A G 11: 42,045,853 (GRCm39) Y86H probably damaging Het
Gabrb3 T C 7: 57,415,202 (GRCm39) Y91H probably damaging Het
Gcn1 T C 5: 115,747,665 (GRCm39) probably null Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Gpr152 T G 19: 4,192,614 (GRCm39) W52G probably damaging Het
Hsd17b12 A G 2: 93,988,081 (GRCm39) V45A probably benign Het
Htr5a A G 5: 28,047,838 (GRCm39) N131S possibly damaging Het
Il16 T A 7: 83,332,064 (GRCm39) N172I probably damaging Het
Itga2 G A 13: 115,020,991 (GRCm39) P120L probably benign Het
Itpkb G T 1: 180,160,056 (GRCm39) E61* probably null Het
Lama1 T C 17: 68,101,215 (GRCm39) S1903P Het
Llgl2 A T 11: 115,742,941 (GRCm39) probably null Het
Mical1 A T 10: 41,362,022 (GRCm39) probably null Het
Muc2 C T 7: 141,288,014 (GRCm39) P262S probably damaging Het
Myo9a A G 9: 59,778,764 (GRCm39) R1507G probably damaging Het
Ndst1 G A 18: 60,833,539 (GRCm39) H491Y probably damaging Het
Nfasc T C 1: 132,527,791 (GRCm39) T872A probably benign Het
Nipal3 A T 4: 135,174,634 (GRCm39) C372* probably null Het
Nmrk1 A G 19: 18,616,929 (GRCm39) H26R probably benign Het
Nubp2 G A 17: 25,103,382 (GRCm39) T165I probably damaging Het
Or2m12 C T 16: 19,105,489 (GRCm39) M1I probably null Het
Or51d1 T A 7: 102,347,832 (GRCm39) M129K probably damaging Het
Or5au1 T C 14: 52,273,205 (GRCm39) D121G probably damaging Het
Or5b102 T G 19: 13,041,256 (GRCm39) D160E probably benign Het
P2ry12 T C 3: 59,134,931 (GRCm39) probably benign Het
Pax8 T A 2: 24,331,173 (GRCm39) D174V probably damaging Het
Pbxip1 A G 3: 89,352,795 (GRCm39) D147G probably damaging Het
Pnpla7 T C 2: 24,892,931 (GRCm39) S451P probably benign Het
Polm A G 11: 5,781,732 (GRCm39) Y255H probably damaging Het
Polr1has C T 17: 37,276,353 (GRCm39) Q242* probably null Het
Rdh14 T A 12: 10,441,118 (GRCm39) C93* probably null Het
Rnf213 C A 11: 119,331,238 (GRCm39) S2150Y Het
Rpap1 G A 2: 119,598,484 (GRCm39) P1111L probably damaging Het
Rpl3l T A 17: 24,947,328 (GRCm39) L14Q probably damaging Het
Sbp A G 17: 24,164,419 (GRCm39) *200W probably null Het
Scn10a A G 9: 119,439,063 (GRCm39) M1601T probably benign Het
Sertad4 C T 1: 192,528,836 (GRCm39) D327N probably damaging Het
Slc4a1 A T 11: 102,242,256 (GRCm39) I821N probably damaging Het
Spaca6 T A 17: 18,057,829 (GRCm39) D164E probably benign Het
Synj1 T C 16: 90,735,412 (GRCm39) T1514A probably benign Het
Synj1 C T 16: 90,757,343 (GRCm39) V902I possibly damaging Het
Tctn1 A G 5: 122,384,576 (GRCm39) Y443H probably benign Het
Thoc5 C T 11: 4,849,883 (GRCm39) R25W possibly damaging Het
Tmem200c A G 17: 69,149,181 (GRCm39) H588R probably benign Het
Trim45 C T 3: 100,832,705 (GRCm39) Q313* probably null Het
Ubqlnl T C 7: 103,799,122 (GRCm39) D125G possibly damaging Het
Ubr4 A T 4: 139,206,859 (GRCm39) E4926V unknown Het
Usp5 T C 6: 124,799,501 (GRCm39) D349G possibly damaging Het
Vmn1r25 T A 6: 57,956,306 (GRCm39) probably benign Het
Xirp2 A G 2: 67,344,167 (GRCm39) Q2136R possibly damaging Het
Zfp28 G A 7: 6,395,623 (GRCm39) R134H Het
Zfp712 A G 13: 67,188,824 (GRCm39) S568P probably benign 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
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
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'- CCAGTAGCTTGGGTGCATTC -3'
(R):5'- GGACCTATTCAGCCCTCAGTTC -3'

Sequencing Primer
(F):5'- GCATTCAGCTTCTTAGGGTACAAGC -3'
(R):5'- AGTCCTCCAGTACCCAGCG -3'
Posted On 2022-10-06