Incidental Mutation 'IGL02274:Cbs'
| ID |
287281 |
| 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 # |
IGL02274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1577 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 31844922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067801]
[ENSMUST00000078509]
[ENSMUST00000118504]
[ENSMUST00000135425]
[ENSMUST00000151718]
[ENSMUST00000155814]
|
| AlphaFold |
Q91WT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067801
AA Change: D126G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: D126G
| 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 damaging
Transcript: ENSMUST00000078509
AA Change: D126G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: D126G
| 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 damaging
Transcript: ENSMUST00000118504
AA Change: D126G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: D126G
| 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 damaging
Transcript: ENSMUST00000135425
AA Change: D126G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118785
Gene: ENSMUSG00000024039
AA Change: D126G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
77 |
175 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143982
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151718
|
| SMART Domains |
Protein: ENSMUSP00000117454
Gene: ENSMUSG00000024039
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4COO|B
|
1 |
86 |
2e-25 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155814
AA Change: D126G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118472
Gene: ENSMUSG00000024039
AA Change: D126G
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
A |
G |
8: 14,997,205 (GRCm39) |
D48G |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,734 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna2d3 |
G |
T |
14: 28,678,827 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
C |
A |
11: 6,540,808 (GRCm39) |
T216K |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,220,473 (GRCm39) |
W131* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,047,621 (GRCm39) |
R318G |
possibly damaging |
Het |
| Gsta3 |
T |
G |
1: 21,320,012 (GRCm39) |
V6G |
possibly damaging |
Het |
| Hdlbp |
A |
T |
1: 93,336,229 (GRCm39) |
|
probably null |
Het |
| Igkv13-55-1 |
T |
G |
6: 69,577,132 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rd |
A |
G |
14: 26,821,867 (GRCm39) |
Y387C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,369,742 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
C |
T |
5: 23,705,758 (GRCm39) |
T1344I |
probably benign |
Het |
| L3mbtl4 |
A |
C |
17: 69,071,579 (GRCm39) |
H502P |
probably benign |
Het |
| Lrig1 |
A |
T |
6: 94,640,919 (GRCm39) |
N95K |
possibly damaging |
Het |
| Neurl2 |
G |
T |
2: 164,675,012 (GRCm39) |
R117S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,035,845 (GRCm39) |
A449T |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,975,767 (GRCm39) |
V435E |
probably benign |
Het |
| Parp9 |
C |
T |
16: 35,768,317 (GRCm39) |
R166W |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,445,735 (GRCm39) |
I158T |
probably damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,142,218 (GRCm39) |
Y143H |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,285 (GRCm39) |
V35A |
probably damaging |
Het |
| Rab3gap1 |
T |
G |
1: 127,866,817 (GRCm39) |
S881A |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,992,329 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,064,839 (GRCm39) |
I418F |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,503,941 (GRCm39) |
H1300P |
probably damaging |
Het |
| Tmppe |
A |
G |
9: 114,234,499 (GRCm39) |
H266R |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,232,896 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,338,995 (GRCm39) |
E412G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,419,429 (GRCm39) |
V2910A |
unknown |
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 |
|
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 |
|
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