Incidental Mutation 'IGL00402:Cbx6'
ID5161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbx6
Ensembl Gene ENSMUSG00000089715
Gene Namechromobox 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00402
Quality Score
Status
Chromosome15
Chromosomal Location79823896-79834688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79828929 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 99 (V99A)
Ref Sequence ENSEMBL: ENSMUSP00000105255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023060] [ENSMUST00000089299] [ENSMUST00000109623] [ENSMUST00000109625] [ENSMUST00000109627] [ENSMUST00000148358]
Predicted Effect probably benign
Transcript: ENSMUST00000023060
SMART Domains Protein: ENSMUSP00000023060
Gene: ENSMUSG00000089837

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
PTX 160 366 2.17e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000089299
AA Change: V99A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000086714
Gene: ENSMUSG00000089837
AA Change: V99A

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
low complexity region 98 115 N/A INTRINSIC
PTX 257 463 2.17e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109623
AA Change: V99A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105252
Gene: ENSMUSG00000089715
AA Change: V99A

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
low complexity region 98 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109625
SMART Domains Protein: ENSMUSP00000105253
Gene: ENSMUSG00000089715

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
low complexity region 80 97 N/A INTRINSIC
low complexity region 166 178 N/A INTRINSIC
low complexity region 219 226 N/A INTRINSIC
low complexity region 238 250 N/A INTRINSIC
low complexity region 255 269 N/A INTRINSIC
low complexity region 378 393 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109627
AA Change: V99A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105255
Gene: ENSMUSG00000089715
AA Change: V99A

DomainStartEndE-ValueType
CHROMO 10 62 1.46e-18 SMART
low complexity region 98 115 N/A INTRINSIC
low complexity region 184 196 N/A INTRINSIC
low complexity region 237 244 N/A INTRINSIC
low complexity region 256 268 N/A INTRINSIC
low complexity region 273 287 N/A INTRINSIC
low complexity region 396 411 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141345
Predicted Effect probably benign
Transcript: ENSMUST00000148358
AA Change: S77P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119037
Gene: ENSMUSG00000089715
AA Change: S77P

DomainStartEndE-ValueType
CHROMO 10 62 4.73e-18 SMART
low complexity region 75 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230681
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,295,191 L846H probably benign Het
Abca6 A T 11: 110,184,709 L1319I probably damaging Het
Apob C T 12: 7,993,065 probably benign Het
Atg16l2 A C 7: 101,296,153 S268R probably benign Het
Atp1b3 T C 9: 96,333,703 probably benign Het
Atxn7 T G 14: 14,096,324 probably benign Het
Birc6 G A 17: 74,573,563 probably benign Het
C330027C09Rik T A 16: 49,001,815 H234Q probably damaging Het
C4b G A 17: 34,734,428 T1027I probably damaging Het
Caskin1 T C 17: 24,503,889 I577T probably damaging Het
Ccr9 A C 9: 123,780,044 I252L probably benign Het
Cdh8 A T 8: 99,279,690 D88E probably damaging Het
Cep135 T C 5: 76,601,459 S258P probably damaging Het
Cep57l1 T G 10: 41,721,551 probably benign Het
Col12a1 T C 9: 79,681,537 T1099A possibly damaging Het
Col4a4 C T 1: 82,491,641 G802D unknown Het
Ddx41 T C 13: 55,531,399 T545A probably damaging Het
Disc1 A T 8: 125,088,275 T293S probably benign Het
Fam13b A T 18: 34,454,718 V509D probably damaging Het
Ffar4 C T 19: 38,107,389 P192L probably benign Het
Fn1 C A 1: 71,641,163 C461F probably damaging Het
Gm14226 G T 2: 155,025,158 S345I probably damaging Het
Gopc T C 10: 52,349,230 K308E probably damaging Het
Hapln2 A T 3: 88,024,334 N28K possibly damaging Het
Hectd1 T C 12: 51,769,108 S1394G possibly damaging Het
Hectd1 T C 12: 51,759,432 H1807R probably benign Het
Ifnl2 A T 7: 28,508,865 V193D possibly damaging Het
Il1rap T A 16: 26,722,401 M464K possibly damaging Het
Krtap16-1 A T 11: 99,985,731 C282* probably null Het
Ltv1 C T 10: 13,190,583 V100I probably benign Het
Mcf2l T C 8: 13,000,857 S308P probably damaging Het
Narf G A 11: 121,238,518 probably null Het
Nmd3 T A 3: 69,745,240 N386K possibly damaging Het
Noxo1 C T 17: 24,698,936 probably benign Het
Olfr390 T A 11: 73,787,580 I214N probably damaging Het
Ppic C T 18: 53,409,294 G114D probably damaging Het
Ppp4r1 T C 17: 65,816,019 S339P probably benign Het
Ptprg T A 14: 12,215,992 L1147Q probably damaging Het
Qser1 A G 2: 104,786,981 V1072A probably benign Het
Rad54l2 T A 9: 106,700,561 M1054L probably benign Het
Scara5 A C 14: 65,738,415 probably benign Het
Smtnl2 C T 11: 72,403,259 probably benign Het
Spink8 A T 9: 109,819,219 I25F probably benign Het
Vit G A 17: 78,601,907 probably null Het
Vps13b A G 15: 35,926,226 D3891G possibly damaging Het
Zfp207 T A 11: 80,393,085 M277K probably benign Het
Zp2 T C 7: 120,133,400 D641G probably benign Het
Other mutations in Cbx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02376:Cbx6 APN 15 79828299 missense probably benign 0.43
IGL02552:Cbx6 APN 15 79828893 missense probably damaging 1.00
R0506:Cbx6 UTSW 15 79828203 missense probably benign
R2184:Cbx6 UTSW 15 79828561 missense probably benign 0.25
R4764:Cbx6 UTSW 15 79828680 missense probably damaging 1.00
R7133:Cbx6 UTSW 15 79828665 missense possibly damaging 0.85
Posted On2012-04-20