Incidental Mutation 'R0466:Cbs'
ID 41662
Institutional Source Beutler Lab
Gene Symbol Cbs
Ensembl Gene ENSMUSG00000024039
Gene Name cystathionine beta-synthase
Synonyms HIP4
MMRRC Submission 038666-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.688) question?
Stock # R0466 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31831602-31856170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31835126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 450 (A450V)
Ref Sequence ENSEMBL: ENSMUSP00000113209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067801] [ENSMUST00000078509] [ENSMUST00000118504]
AlphaFold Q91WT9
Predicted Effect probably benign
Transcript: ENSMUST00000067801
AA Change: A450V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: A450V

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 benign
Transcript: ENSMUST00000078509
AA Change: A450V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: A450V

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 benign
Transcript: ENSMUST00000118504
AA Change: A450V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: A450V

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 noncoding transcript
Transcript: ENSMUST00000151597
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 97% (63/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,887,321 (GRCm39) Y373C probably benign Het
Abca12 T G 1: 71,341,822 (GRCm39) Q1046H probably damaging Het
Adgrv1 A G 13: 81,714,415 (GRCm39) F956S probably benign Het
Alk A G 17: 72,212,152 (GRCm39) V797A possibly damaging Het
Ascl2 A G 7: 142,522,217 (GRCm39) L77P probably benign Het
Aspm A T 1: 139,405,639 (GRCm39) I1509F probably damaging Het
AY358078 A T 14: 52,043,089 (GRCm39) Y259F unknown Het
Cdh11 T A 8: 103,396,690 (GRCm39) Q213L possibly damaging Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cfap126 T C 1: 170,953,769 (GRCm39) I113T probably damaging Het
Clk4 A G 11: 51,158,155 (GRCm39) D53G possibly damaging Het
Dab1 T C 4: 104,577,747 (GRCm39) L272P probably benign Het
Dmtf1 A T 5: 9,182,454 (GRCm39) probably null Het
Dph5 A C 3: 115,722,359 (GRCm39) D279A probably benign Het
Fbxw19 T A 9: 109,307,717 (GRCm39) T461S probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gcg T C 2: 62,307,282 (GRCm39) D93G probably damaging Het
Gmps A G 3: 63,901,365 (GRCm39) T395A probably damaging Het
H2-Ob A G 17: 34,461,633 (GRCm39) D124G probably damaging Het
Itga8 G T 2: 12,237,697 (GRCm39) A341E probably damaging Het
Itih3 A G 14: 30,634,831 (GRCm39) probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kif2c C T 4: 117,029,489 (GRCm39) R215Q possibly damaging Het
Letm1 A C 5: 33,919,074 (GRCm39) probably benign Het
Lypd8l T C 11: 58,503,331 (GRCm39) probably benign Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nfib A C 4: 82,416,775 (GRCm39) Y87D probably damaging Het
Nlrp4a T C 7: 26,162,045 (GRCm39) probably benign Het
Nsmce1 A T 7: 125,071,408 (GRCm39) probably benign Het
Odad2 T A 18: 7,286,758 (GRCm39) I158F probably benign Het
Or7g12 T G 9: 18,899,551 (GRCm39) V89G probably benign Het
Or7g27 A T 9: 19,250,475 (GRCm39) T240S probably damaging Het
Patj C A 4: 98,576,393 (GRCm39) Q1193K probably damaging Het
Pcdhb5 G A 18: 37,455,596 (GRCm39) V659M probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pmis2 T C 7: 30,370,817 (GRCm39) I46V probably benign Het
Ppp2r5e A G 12: 75,509,216 (GRCm39) probably benign Het
Prom2 A G 2: 127,370,709 (GRCm39) F825S probably damaging Het
Rab11fip2 G A 19: 59,894,675 (GRCm39) A524V possibly damaging Het
Rb1cc1 A C 1: 6,333,491 (GRCm39) probably null Het
Rwdd3 G C 3: 120,952,668 (GRCm39) Q180E possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgcg A T 14: 61,459,135 (GRCm39) C265S probably damaging Het
Slc16a3 T C 11: 120,848,878 (GRCm39) S445P possibly damaging Het
Slc22a3 G A 17: 12,677,380 (GRCm39) Q263* probably null Het
Sorcs3 A G 19: 48,736,758 (GRCm39) T694A probably benign Het
Tbc1d15 T C 10: 115,055,077 (GRCm39) K322E probably damaging Het
Tecta G T 9: 42,284,369 (GRCm39) F905L probably benign Het
Tmeff1 A G 4: 48,636,853 (GRCm39) I184V possibly damaging Het
Ttf1 A G 2: 28,955,419 (GRCm39) H261R possibly damaging Het
Ttll6 T A 11: 96,036,417 (GRCm39) L349M probably damaging Het
Ubac2 G A 14: 122,211,031 (GRCm39) V134M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r25 T G 6: 123,829,008 (GRCm39) I89L probably benign Het
Vmn2r6 A C 3: 64,463,723 (GRCm39) F370L probably damaging Het
Vps13b T A 15: 35,445,748 (GRCm39) Y412* probably null Het
Zfp142 A G 1: 74,624,570 (GRCm39) S85P possibly damaging Het
Zfp516 G A 18: 82,975,579 (GRCm39) probably null Het
Other mutations in Cbs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Cbs APN 17 31,840,488 (GRCm39) missense possibly damaging 0.90
IGL02030:Cbs APN 17 31,844,463 (GRCm39) critical splice donor site probably null
IGL02089:Cbs APN 17 31,834,519 (GRCm39) missense probably benign 0.13
IGL02274:Cbs APN 17 31,844,922 (GRCm39) splice site probably null
IGL02733:Cbs APN 17 31,844,005 (GRCm39) missense probably benign 0.01
news UTSW 17 31,843,198 (GRCm39) splice site probably null
PIT4418001:Cbs UTSW 17 31,834,495 (GRCm39) missense possibly damaging 0.89
R0334:Cbs UTSW 17 31,838,130 (GRCm39) missense probably damaging 1.00
R0398:Cbs UTSW 17 31,836,216 (GRCm39) missense probably benign 0.01
R0732:Cbs UTSW 17 31,844,003 (GRCm39) missense probably benign 0.00
R1125:Cbs UTSW 17 31,851,805 (GRCm39) missense probably benign 0.00
R1586:Cbs UTSW 17 31,841,448 (GRCm39) missense probably damaging 1.00
R1646:Cbs UTSW 17 31,832,169 (GRCm39) missense probably benign 0.00
R1728:Cbs UTSW 17 31,839,923 (GRCm39) missense probably benign 0.35
R1729:Cbs UTSW 17 31,839,923 (GRCm39) missense probably benign 0.35
R1784:Cbs UTSW 17 31,839,923 (GRCm39) missense probably benign 0.35
R1823:Cbs UTSW 17 31,843,245 (GRCm39) missense probably damaging 1.00
R2200:Cbs UTSW 17 31,843,238 (GRCm39) missense probably damaging 1.00
R3829:Cbs UTSW 17 31,836,355 (GRCm39) splice site probably benign
R3892:Cbs UTSW 17 31,835,048 (GRCm39) missense probably benign 0.06
R4073:Cbs UTSW 17 31,851,979 (GRCm39) missense possibly damaging 0.80
R4089:Cbs UTSW 17 31,851,980 (GRCm39) missense probably benign 0.03
R4799:Cbs UTSW 17 31,851,826 (GRCm39) missense probably damaging 0.99
R5029:Cbs UTSW 17 31,834,456 (GRCm39) missense possibly damaging 0.85
R5194:Cbs UTSW 17 31,843,198 (GRCm39) splice site probably null
R5244:Cbs UTSW 17 31,836,134 (GRCm39) missense probably damaging 1.00
R5660:Cbs UTSW 17 31,843,220 (GRCm39) missense probably damaging 1.00
R5890:Cbs UTSW 17 31,832,193 (GRCm39) missense probably damaging 0.97
R5935:Cbs UTSW 17 31,851,853 (GRCm39) missense probably damaging 0.98
R5936:Cbs UTSW 17 31,844,068 (GRCm39) missense probably damaging 0.98
R6891:Cbs UTSW 17 31,841,431 (GRCm39) missense probably damaging 1.00
R7126:Cbs UTSW 17 31,838,113 (GRCm39) missense probably benign 0.09
R7220:Cbs UTSW 17 31,838,191 (GRCm39) missense probably benign 0.00
R7343:Cbs UTSW 17 31,838,113 (GRCm39) missense possibly damaging 0.74
R8237:Cbs UTSW 17 31,834,454 (GRCm39) missense probably benign 0.06
R8990:Cbs UTSW 17 31,834,523 (GRCm39) missense probably benign 0.00
R9147:Cbs UTSW 17 31,844,889 (GRCm39) missense probably damaging 1.00
R9148:Cbs UTSW 17 31,844,889 (GRCm39) missense probably damaging 1.00
X0025:Cbs UTSW 17 31,835,111 (GRCm39) missense possibly damaging 0.94
X0057:Cbs UTSW 17 31,851,944 (GRCm39) missense probably benign 0.01
X0067:Cbs UTSW 17 31,846,529 (GRCm39) missense probably damaging 1.00
Z1177:Cbs UTSW 17 31,844,856 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCACTTCTGGCACAGGACACACTAC -3'
(R):5'- AGCCTGATGCGGTTTCCTAGCAAC -3'

Sequencing Primer
(F):5'- ACACTACCCCCTGCCTTTAG -3'
(R):5'- tgtgatggtggcagttagag -3'
Posted On 2013-05-23