Incidental Mutation 'IGL02733:Cbs'
| ID |
305541 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cbs
|
| Ensembl Gene |
ENSMUSG00000024039 |
| Gene Name |
cystathionine beta-synthase |
| Synonyms |
HIP4 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
IGL02733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31844005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 209
(N209Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113209
(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: N209Y
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: N209Y
| 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 benign
Transcript: ENSMUST00000078509
AA Change: N209Y
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: N209Y
| 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 benign
Transcript: ENSMUST00000118504
AA Change: N209Y
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: N209Y
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
T |
A |
4: 49,447,793 (GRCm39) |
T245S |
probably benign |
Het |
| Agl |
T |
C |
3: 116,574,646 (GRCm39) |
I718V |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,302,300 (GRCm39) |
C955R |
probably damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,662 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,536,079 (GRCm39) |
R59Q |
possibly damaging |
Het |
| Dtx1 |
A |
G |
5: 120,819,500 (GRCm39) |
L566P |
probably damaging |
Het |
| Fgf14 |
G |
T |
14: 124,221,213 (GRCm39) |
P197Q |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,094 (GRCm39) |
R83G |
probably benign |
Het |
| Gcc1 |
G |
A |
6: 28,420,661 (GRCm39) |
Q66* |
probably null |
Het |
| Gypc |
T |
C |
18: 32,692,879 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,876,819 (GRCm39) |
A1225V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,358,274 (GRCm39) |
T2452A |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,943,152 (GRCm39) |
I2V |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,394,025 (GRCm39) |
I14T |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,658,677 (GRCm39) |
D400V |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,711,184 (GRCm39) |
Y3206H |
probably damaging |
Het |
| Lce1k |
T |
A |
3: 92,714,192 (GRCm39) |
|
probably benign |
Het |
| Mcpt4 |
C |
T |
14: 56,298,124 (GRCm39) |
M142I |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,775,076 (GRCm39) |
E2168G |
probably benign |
Het |
| Myom3 |
G |
T |
4: 135,541,614 (GRCm39) |
E1402* |
probably null |
Het |
| Nfyb |
G |
T |
10: 82,590,867 (GRCm39) |
Q55K |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,284,136 (GRCm39) |
K137E |
possibly damaging |
Het |
| Pnlip |
T |
A |
19: 58,669,220 (GRCm39) |
D406E |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,594 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2b |
T |
C |
18: 42,781,793 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 31,279,701 (GRCm39) |
T178A |
probably damaging |
Het |
| Prr11 |
C |
T |
11: 86,994,371 (GRCm39) |
A92T |
possibly damaging |
Het |
| Racgap1 |
G |
T |
15: 99,537,585 (GRCm39) |
S67R |
probably damaging |
Het |
| Scn10a |
G |
A |
9: 119,445,771 (GRCm39) |
P1462S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,147,747 (GRCm39) |
E29G |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,021 (GRCm39) |
T133S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,430,296 (GRCm39) |
H269R |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,054,118 (GRCm39) |
N526K |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation