Incidental Mutation 'R2104:Cwh43'
ID 230773
Institutional Source Beutler Lab
Gene Symbol Cwh43
Ensembl Gene ENSMUSG00000029154
Gene Name cell wall biogenesis 43 C-terminal homolog
Synonyms C130090K23Rik
MMRRC Submission 040108-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2104 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 73563418-73610778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73578873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 293 (K293N)
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: K379N

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031040
Gene: ENSMUSG00000029154
AA Change: K379N

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: K293N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069563
Gene: ENSMUSG00000029154
AA Change: K293N

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
Meta Mutation Damage Score 0.0965 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,383,527 (GRCm39) V563I probably benign Het
Amer3 T C 1: 34,627,759 (GRCm39) V666A probably benign Het
Ankrd16 A G 2: 11,784,711 (GRCm39) probably benign Het
Ankub1 G T 3: 57,580,296 (GRCm39) C120* probably null Het
Arhgap31 T C 16: 38,445,941 (GRCm39) I135V probably benign Het
Atp2c2 G A 8: 120,476,584 (GRCm39) G633D probably benign Het
Camta1 T A 4: 151,537,751 (GRCm39) Q143L probably damaging Het
Casp8ap2 T C 4: 32,644,727 (GRCm39) S1267P probably benign Het
Ccn4 A G 15: 66,791,176 (GRCm39) E326G probably benign Het
Cdh1 T A 8: 107,380,391 (GRCm39) probably benign Het
Cdhr4 C A 9: 107,873,460 (GRCm39) D397E probably damaging Het
Cdk6 T G 5: 3,394,387 (GRCm39) S7R probably benign Het
Cert1 T A 13: 96,771,394 (GRCm39) N550K probably damaging Het
Cilp2 C A 8: 70,335,442 (GRCm39) E519* probably null Het
Clybl A G 14: 122,548,718 (GRCm39) Y40C probably damaging Het
Ctnnal1 T C 4: 56,812,329 (GRCm39) *732W probably null Het
Ctns A T 11: 73,083,907 (GRCm39) S38R probably benign Het
Dcaf5 G T 12: 80,385,635 (GRCm39) D830E probably benign Het
Dmxl2 A G 9: 54,322,848 (GRCm39) V1512A probably damaging Het
Dnah9 A T 11: 65,951,950 (GRCm39) C1850S probably damaging Het
Dpp8 C T 9: 64,981,849 (GRCm39) probably null Het
Enam A T 5: 88,649,646 (GRCm39) Q385L probably damaging Het
Etv3 A G 3: 87,443,369 (GRCm39) T318A possibly damaging Het
Exd2 T G 12: 80,543,575 (GRCm39) I586S probably benign Het
Fat3 A G 9: 15,909,813 (GRCm39) V2063A possibly damaging Het
Fezf1 A G 6: 23,247,331 (GRCm39) F248S possibly damaging Het
Flnc T C 6: 29,450,734 (GRCm39) probably null Het
Foxc2 A G 8: 121,844,819 (GRCm39) Y489C probably damaging Het
Gfm2 A G 13: 97,308,028 (GRCm39) E540G probably damaging Het
Hrg T C 16: 22,774,949 (GRCm39) I193T probably benign Het
Ifih1 G A 2: 62,440,889 (GRCm39) Q426* probably null Het
Ifit1bl2 T A 19: 34,596,920 (GRCm39) D232V probably benign Het
Igf2bp1 A G 11: 95,866,122 (GRCm39) V122A probably damaging Het
Inpp1 T G 1: 52,838,577 (GRCm39) Q24P probably damaging Het
Kifc2 A G 15: 76,545,454 (GRCm39) D67G probably damaging Het
Lrrc43 G A 5: 123,639,177 (GRCm39) G402D probably benign Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mab21l3 G T 3: 101,730,744 (GRCm39) A165D probably benign Het
Mcub T A 3: 129,712,337 (GRCm39) R179S probably benign Het
Mdfi G C 17: 48,135,562 (GRCm39) A56G possibly damaging Het
Mdn1 A T 4: 32,743,843 (GRCm39) probably null Het
Meox2 A G 12: 37,217,476 (GRCm39) T226A probably damaging Het
Mipol1 A G 12: 57,352,842 (GRCm39) probably null Het
Mms22l T G 4: 24,591,084 (GRCm39) N1018K probably benign Het
Mn1 T C 5: 111,602,617 (GRCm39) I1285T possibly damaging Het
Muc20 T G 16: 32,614,547 (GRCm39) S277R probably damaging Het
Muc6 C A 7: 141,213,991 (GRCm39) V2845L probably benign Het
Mup5 C A 4: 61,751,962 (GRCm39) G96C probably damaging Het
Neb T A 2: 52,146,826 (GRCm39) M2813L probably benign Het
Neb C A 2: 52,161,570 (GRCm39) R2074L probably damaging Het
Oasl2 A T 5: 115,049,063 (GRCm39) K168* probably null Het
Or6c5 T C 10: 129,074,368 (GRCm39) S117P probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Ptprg T C 14: 11,952,897 (GRCm38) probably null Het
Rims4 C T 2: 163,706,785 (GRCm39) probably null Het
Rtn4ip1 T A 10: 43,808,402 (GRCm39) W60R probably benign Het
Sccpdh T C 1: 179,498,162 (GRCm39) S69P probably benign Het
Serpina3b T A 12: 104,105,069 (GRCm39) I415N probably benign Het
Slc22a4 T C 11: 53,874,436 (GRCm39) probably benign Het
Slc4a5 G A 6: 83,274,360 (GRCm39) A1076T probably benign Het
Slit1 T C 19: 41,590,686 (GRCm39) K1329E possibly damaging Het
Synj2bp A C 12: 81,548,826 (GRCm39) F138V probably benign Het
Taar7a T C 10: 23,868,959 (GRCm39) I141V probably damaging Het
Tas1r3 T C 4: 155,946,588 (GRCm39) E339G probably benign Het
Tep1 A G 14: 51,088,037 (GRCm39) probably benign Het
Tgds A T 14: 118,359,149 (GRCm39) Y146* probably null Het
Tgm3 G A 2: 129,879,403 (GRCm39) V332I probably benign Het
Tnnt2 A G 1: 135,771,547 (GRCm39) probably benign Het
Top1 T A 2: 160,546,739 (GRCm39) Y340N probably damaging Het
Topbp1 T C 9: 103,195,181 (GRCm39) probably benign Het
Tpst1 A G 5: 130,131,202 (GRCm39) N224S probably benign Het
Traf4 A G 11: 78,050,840 (GRCm39) F439L probably damaging Het
Trim58 A G 11: 58,533,964 (GRCm39) probably benign Het
Tspan31 T C 10: 126,904,004 (GRCm39) N205S probably damaging Het
Ube3a T A 7: 58,926,225 (GRCm39) N334K possibly damaging Het
Ugt2a3 A T 5: 87,477,541 (GRCm39) probably null Het
Vwf G A 6: 125,623,293 (GRCm39) V1797I probably benign Het
Wdr81 G T 11: 75,343,809 (GRCm39) P486Q probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Yipf7 T A 5: 69,678,462 (GRCm39) N56I possibly damaging Het
Zfp523 A T 17: 28,414,190 (GRCm39) T75S 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
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'- CTGAGTACCAGCTACATTTCTCAA -3'
(R):5'- GTGGTACTCTTAAATCCATGTTGG -3'

Sequencing Primer
(F):5'- TATCCTCTGCAAAAGCACTAAGTGG -3'
(R):5'- GGCTACATAGTGAGTTTCAGCAC -3'
Posted On 2014-09-18