Incidental Mutation 'R5194:Cbs'
| ID |
400026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbs
|
| Ensembl Gene |
ENSMUSG00000024039 |
| Gene Name |
cystathionine beta-synthase |
| Synonyms |
HIP4 |
| MMRRC Submission |
042770-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
R5194 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 31843198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067801]
[ENSMUST00000078509]
[ENSMUST00000118504]
[ENSMUST00000135425]
[ENSMUST00000151718]
[ENSMUST00000155814]
|
| AlphaFold |
Q91WT9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067801
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000135425
|
| SMART Domains |
Protein: ENSMUSP00000118785
Gene: ENSMUSG00000024039
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4COO|B
|
1 |
86 |
2e-25 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155814
|
| SMART Domains |
Protein: ENSMUSP00000118472
Gene: ENSMUSG00000024039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
77 |
193 |
2.3e-32 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
C |
17: 48,348,059 (GRCm39) |
N82D |
probably benign |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,281,652 (GRCm39) |
V380A |
probably benign |
Het |
| Acadm |
C |
T |
3: 153,638,755 (GRCm39) |
R206H |
possibly damaging |
Het |
| Acly |
T |
A |
11: 100,414,372 (GRCm39) |
Y18F |
probably benign |
Het |
| Acnat2 |
G |
T |
4: 49,380,452 (GRCm39) |
Q291K |
probably benign |
Het |
| Agtpbp1 |
T |
C |
13: 59,648,453 (GRCm39) |
I456V |
probably benign |
Het |
| Ankrd7 |
A |
G |
6: 18,868,076 (GRCm39) |
N114S |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,275,132 (GRCm39) |
L307I |
probably benign |
Het |
| Arhgef2 |
A |
T |
3: 88,542,956 (GRCm39) |
I383F |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,763,624 (GRCm39) |
V538A |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,532,936 (GRCm39) |
E254G |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,788,345 (GRCm39) |
V236A |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,723,302 (GRCm39) |
Q169* |
probably null |
Het |
| Egfem1 |
G |
A |
3: 29,411,345 (GRCm39) |
|
probably null |
Het |
| Eif2ak3 |
T |
C |
6: 70,835,462 (GRCm39) |
S130P |
possibly damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,032,355 (GRCm39) |
N297S |
unknown |
Het |
| F13a1 |
T |
G |
13: 37,156,037 (GRCm39) |
D192A |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,034,411 (GRCm39) |
V1067A |
probably benign |
Het |
| Gm17490 |
T |
C |
2: 11,631,062 (GRCm39) |
Y5C |
unknown |
Het |
| Gm57859 |
T |
C |
11: 113,579,654 (GRCm39) |
S350P |
possibly damaging |
Het |
| Gm8587 |
C |
T |
12: 88,056,556 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Ab1 |
C |
T |
17: 34,488,352 (GRCm39) |
|
probably benign |
Het |
| Hoxd12 |
T |
C |
2: 74,505,447 (GRCm39) |
L6P |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,576,910 (GRCm39) |
D564N |
possibly damaging |
Het |
| Irak2 |
T |
C |
6: 113,667,751 (GRCm39) |
V444A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,235,526 (GRCm39) |
N877H |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,079,495 (GRCm39) |
I388V |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,801,733 (GRCm39) |
A1286V |
probably benign |
Het |
| Myt1l |
A |
C |
12: 29,861,647 (GRCm39) |
D143A |
unknown |
Het |
| Ngfr |
T |
C |
11: 95,471,808 (GRCm39) |
N63S |
probably benign |
Het |
| Or2ag16 |
A |
T |
7: 106,352,426 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4c3 |
T |
A |
2: 89,851,870 (GRCm39) |
Y180F |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,071 (GRCm39) |
I255V |
probably benign |
Het |
| Or6c70 |
C |
T |
10: 129,709,967 (GRCm39) |
V220I |
probably benign |
Het |
| Or6z6 |
A |
G |
7: 6,491,519 (GRCm39) |
L118P |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,811,858 (GRCm39) |
S390P |
probably benign |
Het |
| Pcdhga4 |
A |
C |
18: 37,820,794 (GRCm39) |
Q781P |
probably benign |
Het |
| Phip |
G |
A |
9: 82,790,915 (GRCm39) |
S677F |
probably benign |
Het |
| Ptpdc1 |
C |
A |
13: 48,740,265 (GRCm39) |
V389F |
possibly damaging |
Het |
| Rab2a |
T |
A |
4: 8,604,381 (GRCm39) |
I161N |
probably benign |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,111 (GRCm39) |
M1K |
probably null |
Het |
| Schip1 |
T |
C |
3: 68,402,205 (GRCm39) |
V122A |
probably benign |
Het |
| Sdr16c5 |
C |
A |
4: 4,006,663 (GRCm39) |
A210S |
probably benign |
Het |
| Sh3bp1 |
A |
G |
15: 78,787,301 (GRCm39) |
K83E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,166,012 (GRCm39) |
S1541G |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,870,673 (GRCm39) |
Y4C |
probably damaging |
Het |
| Smco1 |
C |
T |
16: 32,092,592 (GRCm39) |
H88Y |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,084,336 (GRCm39) |
D697G |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,200 (GRCm39) |
N334S |
possibly damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,346,847 (GRCm39) |
I64T |
probably benign |
Het |
| Vstm2b |
T |
A |
7: 40,551,912 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,140,639 (GRCm39) |
F238L |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,596,822 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,579,434 (GRCm39) |
S560G |
probably benign |
Het |
|
| Other mutations in Cbs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GGAACCACACTCGACTGAATATG -3'
(R):5'- TAGGACTTGTTGACCCGCATG -3'
Sequencing Primer
(F):5'- AAGACCCATGTTTCTTGCAATGGG -3'
(R):5'- TGTTGACCCGCATGGAGCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation