Incidental Mutation 'R4089:Cbs'
ID 317534
Institutional Source Beutler Lab
Gene Symbol Cbs
Ensembl Gene ENSMUSG00000024039
Gene Name cystathionine beta-synthase
Synonyms HIP4
MMRRC Submission 040982-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.688) question?
Stock # R4089 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31831602-31856170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 31851980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 8 (C8G)
Ref Sequence ENSEMBL: ENSMUSP00000117454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067801] [ENSMUST00000078509] [ENSMUST00000118504] [ENSMUST00000135425] [ENSMUST00000151718] [ENSMUST00000155814]
AlphaFold Q91WT9
Predicted Effect probably benign
Transcript: ENSMUST00000067801
AA Change: C8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: C8G

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: C8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: C8G

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: C8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: C8G

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: ENSMUST00000135425
AA Change: C8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118785
Gene: ENSMUSG00000024039
AA Change: C8G

DomainStartEndE-ValueType
Pfam:PALP 77 175 4.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151718
AA Change: C8G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117454
Gene: ENSMUSG00000024039
AA Change: C8G

DomainStartEndE-ValueType
PDB:4COO|B 1 86 2e-25 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000155814
AA Change: C8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118472
Gene: ENSMUSG00000024039
AA Change: C8G

DomainStartEndE-ValueType
Pfam:PALP 77 193 2.3e-32 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (51/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A530064D06Rik A G 17: 48,473,678 (GRCm39) S80P probably damaging Het
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Actr5 T C 2: 158,467,022 (GRCm39) probably benign Het
Arhgef17 T A 7: 100,533,006 (GRCm39) E1173V probably damaging Het
Brca1 T C 11: 101,415,002 (GRCm39) N1044S possibly damaging Het
Cap1 A G 4: 122,756,202 (GRCm39) V398A probably benign Het
Csmd1 T A 8: 16,042,738 (GRCm39) I2332F probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dip2a T C 10: 76,114,323 (GRCm39) probably null Het
Dock9 A T 14: 121,820,883 (GRCm39) C1494S probably damaging Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fbn2 C T 18: 58,186,841 (GRCm39) D1687N probably benign Het
Flt1 C A 5: 147,501,051 (GRCm39) L1327F probably benign Het
Frem3 T C 8: 81,341,802 (GRCm39) F1365S probably damaging Het
Gigyf2 A G 1: 87,371,394 (GRCm39) E1169G probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm14443 T C 2: 175,013,685 (GRCm39) Y29C probably damaging Het
Gpr108 A G 17: 57,544,925 (GRCm39) Y313H probably damaging Het
Ifngr1 T C 10: 19,477,233 (GRCm39) probably null Het
Il31ra C T 13: 112,688,453 (GRCm39) W41* probably null Het
Ints4 T A 7: 97,178,462 (GRCm39) Y687* probably null Het
Jpt2 A G 17: 25,175,076 (GRCm39) S37P probably benign Het
Kcnk9 A G 15: 72,418,112 (GRCm39) V6A probably benign Het
Lamc3 C T 2: 31,810,520 (GRCm39) R797* probably null Het
Lrig1 A G 6: 94,586,840 (GRCm39) I612T possibly damaging Het
Mapk4 C A 18: 74,063,530 (GRCm39) C564F probably damaging Het
Marveld2 T A 13: 100,736,988 (GRCm39) H215L probably benign Het
Mindy3 T C 2: 12,369,327 (GRCm39) M84V probably benign Het
Nek3 T C 8: 22,639,929 (GRCm39) D182G probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Pkp3 G A 7: 140,664,056 (GRCm39) R411H probably damaging Het
Plau A G 14: 20,891,134 (GRCm39) D366G probably damaging Het
Prkd3 A G 17: 79,278,817 (GRCm39) M423T possibly damaging Het
Prmt9 A T 8: 78,299,174 (GRCm39) I623L probably benign Het
Rgs6 A T 12: 83,110,261 (GRCm39) E175D probably damaging Het
Rnf135 G A 11: 80,089,872 (GRCm39) G403S probably damaging Het
Scn11a C T 9: 119,624,719 (GRCm39) probably null Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sos1 A G 17: 80,756,781 (GRCm39) V257A probably benign Het
Sox10 C T 15: 79,040,563 (GRCm39) V165M possibly damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Tex14 A G 11: 87,403,029 (GRCm39) D533G probably damaging Het
Topbp1 T C 9: 103,201,700 (GRCm39) probably null Het
Trim30d T C 7: 104,137,007 (GRCm39) N66D probably damaging Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Trip4 A G 9: 65,765,565 (GRCm39) V378A probably benign Het
Vmn2r115 A C 17: 23,565,358 (GRCm39) Q415P probably benign Het
Washc2 A T 6: 116,233,253 (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
R0466:Cbs UTSW 17 31,835,126 (GRCm39) missense probably benign
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
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'- ACTTACAGCACTGTGTGATAATGTG -3'
(R):5'- TTCAATTGCTGCGTCAGATGG -3'

Sequencing Primer
(F):5'- ATAATGTGGGGAGTCCGCC -3'
(R):5'- CGTCAGATGGTAGTTTATGTTTAACC -3'
Posted On 2015-05-15