Incidental Mutation 'R3829:Cbs'
ID 273919
Institutional Source Beutler Lab
Gene Symbol Cbs
Ensembl Gene ENSMUSG00000024039
Gene Name cystathionine beta-synthase
Synonyms HIP4
MMRRC Submission 040776-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.688) question?
Stock # R3829 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31831602-31856170 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 31836355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067801] [ENSMUST00000078509] [ENSMUST00000118504]
AlphaFold Q91WT9
Predicted Effect probably benign
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 benign
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 benign
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 noncoding transcript
Transcript: ENSMUST00000143982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151597
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G T 14: 54,821,966 (GRCm39) H466Q probably damaging Het
4933411K16Rik A T 19: 42,041,322 (GRCm39) H151L probably damaging Het
A330008L17Rik A G 8: 100,148,389 (GRCm39) noncoding transcript Het
Abcc5 C A 16: 20,184,615 (GRCm39) V1015L probably benign Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Birc6 A G 17: 74,962,173 (GRCm39) K3929R probably damaging Het
C1qtnf2 A G 11: 43,382,148 (GRCm39) D320G probably benign Het
Cbr2 A T 11: 120,621,278 (GRCm39) H140Q probably benign Het
Cdc42bpg T C 19: 6,367,675 (GRCm39) V1015A probably damaging Het
Cep104 T G 4: 154,069,400 (GRCm39) M207R probably damaging Het
Chil6 A T 3: 106,313,274 (GRCm39) M25K probably benign Het
Cln5 A G 14: 103,310,795 (GRCm39) D154G probably damaging Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cplane2 C T 4: 140,945,900 (GRCm39) R148C probably damaging Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Cyct T C 2: 76,184,512 (GRCm39) K80E probably damaging Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
Etl4 T C 2: 20,790,232 (GRCm39) V628A probably benign Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Foxp2 C T 6: 15,379,830 (GRCm39) probably benign Het
Frem1 A T 4: 82,917,167 (GRCm39) F592Y probably damaging Het
Gm10259 T G 3: 25,266,693 (GRCm39) noncoding transcript Het
Gm17521 C A X: 121,938,922 (GRCm39) G149C unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
Hap1 G T 11: 100,246,847 (GRCm39) D19E probably damaging Het
Lpcat1 T C 13: 73,637,212 (GRCm39) I114T possibly damaging Het
Mast4 G T 13: 102,875,319 (GRCm39) H1350N probably damaging Het
Mrpl50 T C 4: 49,514,539 (GRCm39) E44G probably damaging Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Ncapg2 A T 12: 116,370,938 (GRCm39) probably benign Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Neo1 A G 9: 58,820,452 (GRCm39) Y824H possibly damaging Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Orc1 T A 4: 108,462,828 (GRCm39) M635K probably damaging Het
Phip A G 9: 82,753,698 (GRCm39) I1682T probably benign Het
Ppp2r1b A G 9: 50,773,794 (GRCm39) N223S probably benign Het
Ralb A T 1: 119,399,447 (GRCm39) C204S probably benign Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Srrm3 A G 5: 135,886,068 (GRCm39) D336G probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Tiam2 C G 17: 3,557,976 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmprss11b T C 5: 86,809,449 (GRCm39) T348A probably damaging Het
Ube3b C A 5: 114,538,012 (GRCm39) Q368K probably damaging Het
Veph1 T A 3: 66,066,748 (GRCm39) E413D possibly damaging Het
Vmn2r91 T G 17: 18,325,759 (GRCm39) W126G probably damaging Het
Yrdc T A 4: 124,745,554 (GRCm39) M1K probably null Het
Zfp445 T C 9: 122,682,142 (GRCm39) M600V probably benign 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
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'- ATGGTGTCCTCACAGGTGAC -3'
(R):5'- GGCATCCTTTCATCCTATGTGG -3'

Sequencing Primer
(F):5'- TCCTCACAGGTGACCGTGG -3'
(R):5'- TCCTATGTGGAAACAGTAAGACC -3'
Posted On 2015-04-02