Incidental Mutation 'IGL02030:Cbs'
ID184347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbs
Ensembl Gene ENSMUSG00000024039
Gene Namecystathionine beta-synthase
SynonymsHIP4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.734) question?
Stock #IGL02030
Quality Score
Status
Chromosome17
Chromosomal Location31612623-31637199 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 31625489 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067801] [ENSMUST00000078509] [ENSMUST00000118504] [ENSMUST00000135425] [ENSMUST00000151718] [ENSMUST00000155814]
Predicted Effect probably null
Transcript: ENSMUST00000067801
SMART Domains Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039

DomainStartEndE-ValueType
Pfam:PALP 77 373 3.7e-66 PFAM
CBS 417 465 5.9e-11 SMART
Blast:CBS 482 553 1e-7 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000078509
SMART Domains Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039

DomainStartEndE-ValueType
Pfam:PALP 77 373 3.4e-64 PFAM
CBS 417 465 1.19e-8 SMART
Blast:CBS 483 539 2e-11 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000118504
SMART Domains Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039

DomainStartEndE-ValueType
Pfam:PALP 77 373 3.4e-64 PFAM
CBS 417 465 1.19e-8 SMART
Blast:CBS 483 539 2e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128351
Predicted Effect probably null
Transcript: ENSMUST00000135425
SMART Domains Protein: ENSMUSP00000118785
Gene: ENSMUSG00000024039

DomainStartEndE-ValueType
Pfam:PALP 77 175 4.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143982
Predicted Effect probably benign
Transcript: ENSMUST00000151718
SMART Domains Protein: ENSMUSP00000117454
Gene: ENSMUSG00000024039

DomainStartEndE-ValueType
PDB:4COO|B 1 86 2e-25 PDB
Predicted Effect probably null
Transcript: ENSMUST00000155814
SMART Domains Protein: ENSMUSP00000118472
Gene: ENSMUSG00000024039

DomainStartEndE-ValueType
Pfam:PALP 77 193 2.3e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous targeted mutants are severely growth retarded and die within 5 weeks of birth with enlarged multinucleate hepatocytes filled with lipid and massively elevated plasma homocysteine levels. Heterozygotes have twice normal homocysteine levels, butsurvive and breed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,857 D532G probably benign Het
Adam29 C T 8: 55,872,122 M432I probably benign Het
Ccer1 A G 10: 97,693,610 Y45C unknown Het
Clu G A 14: 65,975,791 G209S probably benign Het
Ddx17 T C 15: 79,530,376 D530G probably benign Het
Ddx4 T C 13: 112,624,777 probably benign Het
Fry C T 5: 150,471,618 probably benign Het
Fut10 C T 8: 31,235,978 Q254* probably null Het
Gucy2e A G 11: 69,223,816 F1002S probably damaging Het
Hsd3b6 T C 3: 98,806,173 Y270C probably benign Het
Jup A G 11: 100,376,991 I502T probably damaging Het
Lrrc71 T A 3: 87,745,224 probably null Het
Mei1 T C 15: 82,115,743 V1127A probably benign Het
Ncstn A T 1: 172,072,457 probably benign Het
Nin T C 12: 70,045,268 R756G probably damaging Het
Notch2 C A 3: 98,099,421 probably null Het
Oacyl T C 18: 65,737,910 V394A probably damaging Het
Olfr1444 T C 19: 12,862,435 F220S probably benign Het
Olfr348 A G 2: 36,787,398 Y291C probably damaging Het
Olfr524 A G 7: 140,202,632 I46T probably damaging Het
Parn A G 16: 13,664,650 probably null Het
Rspo3 T G 10: 29,500,048 E173A probably damaging Het
Rusc2 T A 4: 43,416,095 V467E possibly damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Uchl4 T C 9: 64,235,629 S131P probably benign Het
Usp54 T C 14: 20,565,946 I769V probably benign Het
Xirp2 T C 2: 67,508,981 M522T probably benign Het
Other mutations in Cbs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Cbs APN 17 31621514 missense possibly damaging 0.90
IGL02089:Cbs APN 17 31615545 missense probably benign 0.13
IGL02274:Cbs APN 17 31625948 unclassified probably null
IGL02733:Cbs APN 17 31625031 missense probably benign 0.01
PIT4418001:Cbs UTSW 17 31615521 missense possibly damaging 0.89
R0334:Cbs UTSW 17 31619156 missense probably damaging 1.00
R0398:Cbs UTSW 17 31617242 missense probably benign 0.01
R0466:Cbs UTSW 17 31616152 missense probably benign
R0732:Cbs UTSW 17 31625029 missense probably benign 0.00
R1125:Cbs UTSW 17 31632831 missense probably benign 0.00
R1586:Cbs UTSW 17 31622474 missense probably damaging 1.00
R1646:Cbs UTSW 17 31613195 missense probably benign 0.00
R1728:Cbs UTSW 17 31620949 missense probably benign 0.35
R1729:Cbs UTSW 17 31620949 missense probably benign 0.35
R1784:Cbs UTSW 17 31620949 missense probably benign 0.35
R1823:Cbs UTSW 17 31624271 missense probably damaging 1.00
R2200:Cbs UTSW 17 31624264 missense probably damaging 1.00
R3829:Cbs UTSW 17 31617381 splice site probably benign
R3892:Cbs UTSW 17 31616074 missense probably benign 0.06
R4073:Cbs UTSW 17 31633005 missense possibly damaging 0.80
R4089:Cbs UTSW 17 31633006 missense probably benign 0.03
R4799:Cbs UTSW 17 31632852 missense probably damaging 0.99
R5029:Cbs UTSW 17 31615482 missense possibly damaging 0.85
R5194:Cbs UTSW 17 31624224 splice site probably null
R5244:Cbs UTSW 17 31617160 missense probably damaging 1.00
R5660:Cbs UTSW 17 31624246 missense probably damaging 1.00
R5890:Cbs UTSW 17 31613219 missense probably damaging 0.97
R5935:Cbs UTSW 17 31632879 missense probably damaging 0.98
R5936:Cbs UTSW 17 31625094 missense probably damaging 0.98
R6891:Cbs UTSW 17 31622457 missense probably damaging 1.00
R7126:Cbs UTSW 17 31619139 missense probably benign 0.09
R7220:Cbs UTSW 17 31619217 missense probably benign 0.00
R7343:Cbs UTSW 17 31619139 missense possibly damaging 0.74
X0025:Cbs UTSW 17 31616137 missense possibly damaging 0.94
X0057:Cbs UTSW 17 31632970 missense probably benign 0.01
X0067:Cbs UTSW 17 31627555 missense probably damaging 1.00
Z1177:Cbs UTSW 17 31625882 critical splice donor site probably null
Posted On2014-05-07