Incidental Mutation 'IGL01568:Cbs'
ID |
91061 |
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: 0.730)
|
Stock # |
IGL01568
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31840488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 290
(L290P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067801]
[ENSMUST00000078509]
[ENSMUST00000118504]
[ENSMUST00000135425]
[ENSMUST00000155814]
|
AlphaFold |
Q91WT9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067801
AA Change: L290P
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066878 Gene: ENSMUSG00000024039 AA Change: L290P
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 |
possibly damaging
Transcript: ENSMUST00000078509
AA Change: L290P
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000077597 Gene: ENSMUSG00000024039 AA Change: L290P
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 |
possibly damaging
Transcript: ENSMUST00000118504
AA Change: L290P
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113209 Gene: ENSMUSG00000024039 AA Change: L290P
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 |
noncoding transcript
Transcript: ENSMUST00000151597
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
A |
7: 75,258,270 (GRCm39) |
L298* |
probably null |
Het |
Capn15 |
G |
T |
17: 26,184,419 (GRCm39) |
R21S |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,229,798 (GRCm39) |
I144T |
probably benign |
Het |
Dok4 |
T |
A |
8: 95,593,430 (GRCm39) |
I119F |
probably benign |
Het |
Dpp9 |
T |
C |
17: 56,498,159 (GRCm39) |
N599S |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,867,361 (GRCm39) |
T984A |
unknown |
Het |
Fcrl2 |
T |
C |
3: 87,163,986 (GRCm39) |
N381S |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,253,219 (GRCm39) |
I1390V |
probably benign |
Het |
Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
Gimap9 |
A |
G |
6: 48,654,550 (GRCm39) |
T46A |
probably benign |
Het |
Gm3696 |
T |
C |
14: 18,435,020 (GRCm39) |
N88S |
probably benign |
Het |
Gm5277 |
A |
G |
3: 78,799,743 (GRCm39) |
|
noncoding transcript |
Het |
Gpr153 |
C |
A |
4: 152,366,825 (GRCm39) |
|
probably null |
Het |
Hgf |
A |
T |
5: 16,769,812 (GRCm39) |
K95N |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,902,872 (GRCm39) |
S2393P |
possibly damaging |
Het |
Ikbke |
C |
A |
1: 131,185,633 (GRCm39) |
|
probably null |
Het |
Il17re |
G |
T |
6: 113,447,013 (GRCm39) |
R588L |
probably damaging |
Het |
Itch |
T |
C |
2: 155,054,382 (GRCm39) |
|
probably benign |
Het |
Krt1c |
T |
A |
15: 101,721,646 (GRCm39) |
D465V |
probably damaging |
Het |
Krt28 |
G |
T |
11: 99,262,243 (GRCm39) |
P249Q |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,608,038 (GRCm39) |
D234E |
probably benign |
Het |
Mtmr3 |
A |
G |
11: 4,477,861 (GRCm39) |
I61T |
probably damaging |
Het |
Naip5 |
G |
T |
13: 100,353,609 (GRCm39) |
Q1217K |
probably benign |
Het |
Nt5dc3 |
A |
G |
10: 86,669,802 (GRCm39) |
T466A |
probably benign |
Het |
Or5bw2 |
A |
T |
7: 6,573,569 (GRCm39) |
H193L |
possibly damaging |
Het |
Or8s2 |
T |
C |
15: 98,276,787 (GRCm39) |
D68G |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,435,054 (GRCm39) |
V340A |
possibly damaging |
Het |
Pclo |
C |
T |
5: 14,728,443 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
C |
T |
18: 63,163,463 (GRCm39) |
V2152I |
probably benign |
Het |
Pip4k2b |
A |
T |
11: 97,620,378 (GRCm39) |
|
probably null |
Het |
Ptprs |
G |
A |
17: 56,720,958 (GRCm39) |
H1432Y |
probably damaging |
Het |
Rars1 |
A |
G |
11: 35,716,808 (GRCm39) |
|
probably benign |
Het |
Scrn1 |
A |
G |
6: 54,499,739 (GRCm39) |
|
probably benign |
Het |
Sdr42e1 |
T |
C |
8: 118,390,182 (GRCm39) |
Y153C |
probably damaging |
Het |
Slc18a1 |
A |
T |
8: 69,518,278 (GRCm39) |
S245R |
probably damaging |
Het |
Spmip4 |
A |
G |
6: 50,550,678 (GRCm39) |
|
probably benign |
Het |
Tns1 |
T |
G |
1: 73,992,668 (GRCm39) |
D670A |
probably damaging |
Het |
Trim16 |
T |
A |
11: 62,711,684 (GRCm39) |
D118E |
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,129,269 (GRCm39) |
D62G |
probably benign |
Het |
Tyr |
A |
G |
7: 87,087,156 (GRCm39) |
L452P |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,148,684 (GRCm39) |
C1723R |
probably damaging |
Het |
Uqcrb |
G |
A |
13: 67,049,459 (GRCm39) |
|
probably benign |
Het |
Vax2 |
G |
T |
6: 83,688,519 (GRCm39) |
V81L |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,463,106 (GRCm39) |
V691A |
unknown |
Het |
Zfp335 |
A |
G |
2: 164,736,708 (GRCm39) |
S976P |
possibly damaging |
Het |
Zfp384 |
C |
T |
6: 125,001,095 (GRCm39) |
P56S |
probably damaging |
Het |
|
Other mutations in Cbs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-09 |