Incidental Mutation 'R0655:Cbwd1'
ID62532
Institutional Source Beutler Lab
Gene Symbol Cbwd1
Ensembl Gene ENSMUSG00000024878
Gene NameCOBW domain containing 1
Synonyms
MMRRC Submission 038840-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.239) question?
Stock #R0655 (G1)
Quality Score178
Status Not validated
Chromosome19
Chromosomal Location24919916-24961616 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24953320 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 122 (M122V)
Ref Sequence ENSEMBL: ENSMUSP00000025815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025815]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025815
AA Change: M122V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025815
Gene: ENSMUSG00000024878
AA Change: M122V

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
Pfam:cobW 41 229 7.1e-51 PFAM
CobW_C 271 374 5.34e-1 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G C 17: 35,957,845 I757M probably benign Het
Atg16l1 T A 1: 87,766,829 I76N probably damaging Het
Baz1b T A 5: 135,242,430 I1289N probably benign Het
Bcl2l15 T A 3: 103,832,969 probably null Het
Btbd11 A G 10: 85,645,526 T931A probably damaging Het
Cbl G T 9: 44,158,752 T566K probably damaging Het
Cd96 T C 16: 46,099,119 K180E probably benign Het
Cpxm2 G A 7: 132,054,820 T571I possibly damaging Het
Cyp2a12 A T 7: 27,036,621 Y485F probably benign Het
Cyp4f17 T A 17: 32,524,897 Y350N possibly damaging Het
Dstn T A 2: 143,938,422 I14N probably damaging Het
Eea1 A G 10: 95,995,598 S184G probably benign Het
Eif1a G T 18: 46,608,063 G122C probably damaging Het
Esf1 T A 2: 140,148,879 T562S probably benign Het
Fem1c G A 18: 46,505,160 R592C probably benign Het
Fig4 T C 10: 41,285,677 N30S probably damaging Het
Gria2 C A 3: 80,732,070 E212* probably null Het
Gsdmc2 C T 15: 63,827,773 A269T probably benign Het
Herc4 T C 10: 63,273,571 V195A probably benign Het
Hivep1 T C 13: 42,167,585 S2123P probably damaging Het
Hspa4 T C 11: 53,269,692 E519G probably benign Het
Htr2b A G 1: 86,110,843 S14P probably benign Het
Ifit1 T C 19: 34,647,647 V61A probably damaging Het
Ifitm1 C A 7: 140,969,536 F77L probably benign Het
Matn2 T C 15: 34,345,200 S118P probably benign Het
Mtmr3 C A 11: 4,488,610 D615Y probably damaging Het
Mtss1 C A 15: 59,081,502 C9F probably damaging Het
Muc5b A T 7: 141,863,942 I3542F probably benign Het
Nwd2 T C 5: 63,791,585 S167P possibly damaging Het
Olfr394 T C 11: 73,887,805 D189G possibly damaging Het
Olfr694 A T 7: 106,689,425 F102Y probably damaging Het
Olfr921 C T 9: 38,775,554 Q100* probably null Het
Oscp1 T C 4: 126,058,733 L18P probably damaging Het
Pax5 A G 4: 44,537,462 S297P probably damaging Het
Phldb3 A T 7: 24,624,372 D476V probably benign Het
Phlpp2 A T 8: 109,895,587 I154L probably benign Het
Prx T A 7: 27,517,421 V449E probably damaging Het
Psd3 A G 8: 67,963,689 S519P probably benign Het
Rnf138 T G 18: 21,010,783 V128G probably benign Het
Safb T A 17: 56,597,803 S209T probably benign Het
Sbno1 C A 5: 124,376,149 V1327L possibly damaging Het
Scarb1 A G 5: 125,300,440 V176A probably damaging Het
Scd4 A G 19: 44,338,968 H161R possibly damaging Het
Selenoo T A 15: 89,095,655 H335Q probably damaging Het
Slfn8 A G 11: 83,003,821 F664S probably benign Het
Spef2 T C 15: 9,626,131 I1116M possibly damaging Het
Taf2 G A 15: 55,038,294 R835W probably damaging Het
Tdrd9 A G 12: 112,040,465 E921G probably damaging Het
Tectb G A 19: 55,189,870 G234S possibly damaging Het
Tmc1 C T 19: 20,799,176 M606I probably damaging Het
Tmed10 T A 12: 85,343,517 I88F probably damaging Het
Tnfrsf11a G A 1: 105,808,155 V31I unknown Het
Trp53inp2 G T 2: 155,386,168 G98* probably null Het
Tssc4 A G 7: 143,070,045 D30G probably damaging Het
Uaca T C 9: 60,872,029 Y1233H probably benign Het
Unc13c G A 9: 73,930,953 T872I probably damaging Het
Unc80 A G 1: 66,503,781 H398R probably damaging Het
Vmn1r64 G A 7: 5,884,208 T112I probably benign Het
Vmn1r85 A G 7: 13,084,723 Y165H probably damaging Het
Vmn2r72 A T 7: 85,738,111 C748* probably null Het
Wdr17 A G 8: 54,649,198 W929R probably damaging Het
Yeats2 A T 16: 20,193,824 K591* probably null Het
Zbtb9 T A 17: 26,974,100 S160T probably damaging Het
Znfx1 T A 2: 167,056,907 R32S probably damaging Het
Other mutations in Cbwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00720:Cbwd1 APN 19 24921131 missense probably benign 0.01
IGL01618:Cbwd1 APN 19 24940776 missense possibly damaging 0.83
IGL02351:Cbwd1 APN 19 24931662 critical splice donor site probably null
IGL02358:Cbwd1 APN 19 24931662 critical splice donor site probably null
IGL02628:Cbwd1 APN 19 24957905 missense probably damaging 1.00
IGL03001:Cbwd1 APN 19 24922638 missense probably benign 0.01
IGL03053:Cbwd1 APN 19 24955377 missense probably damaging 1.00
IGL03409:Cbwd1 APN 19 24922766 missense probably benign 0.01
R0544:Cbwd1 UTSW 19 24949211 missense possibly damaging 0.79
R0833:Cbwd1 UTSW 19 24940839 splice site probably benign
R1296:Cbwd1 UTSW 19 24942675 splice site probably benign
R1723:Cbwd1 UTSW 19 24948094 missense possibly damaging 0.89
R1888:Cbwd1 UTSW 19 24955405 missense probably damaging 1.00
R1888:Cbwd1 UTSW 19 24955405 missense probably damaging 1.00
R4526:Cbwd1 UTSW 19 24957964 missense probably benign 0.20
R5092:Cbwd1 UTSW 19 24921019 critical splice donor site probably null
R5238:Cbwd1 UTSW 19 24920630 missense probably damaging 0.99
R5852:Cbwd1 UTSW 19 24955405 missense possibly damaging 0.89
R7248:Cbwd1 UTSW 19 24921141 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTCTCTACATGAACAGGCACACAC -3'
(R):5'- TCAGTGGTATGCAGTGACATTCCTTTC -3'

Sequencing Primer
(F):5'- gcacacacatgagcccac -3'
(R):5'- GCAGTGACATTCCTTTCAACTTAG -3'
Posted On2013-07-30