Incidental Mutation 'R0466:Cbs'
ID |
41662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cbs
|
Ensembl Gene |
ENSMUSG00000024039 |
Gene Name |
cystathionine beta-synthase |
Synonyms |
HIP4 |
MMRRC Submission |
038666-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.688)
|
Stock # |
R0466 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 31835126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 450
(A450V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067801]
[ENSMUST00000078509]
[ENSMUST00000118504]
|
AlphaFold |
Q91WT9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067801
AA Change: A450V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066878 Gene: ENSMUSG00000024039 AA Change: A450V
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: A450V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077597 Gene: ENSMUSG00000024039 AA Change: A450V
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: A450V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113209 Gene: ENSMUSG00000024039 AA Change: A450V
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 |
noncoding transcript
Transcript: ENSMUST00000151597
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
97% (63/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,887,321 (GRCm39) |
Y373C |
probably benign |
Het |
Abca12 |
T |
G |
1: 71,341,822 (GRCm39) |
Q1046H |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,714,415 (GRCm39) |
F956S |
probably benign |
Het |
Alk |
A |
G |
17: 72,212,152 (GRCm39) |
V797A |
possibly damaging |
Het |
Ascl2 |
A |
G |
7: 142,522,217 (GRCm39) |
L77P |
probably benign |
Het |
Aspm |
A |
T |
1: 139,405,639 (GRCm39) |
I1509F |
probably damaging |
Het |
AY358078 |
A |
T |
14: 52,043,089 (GRCm39) |
Y259F |
unknown |
Het |
Cdh11 |
T |
A |
8: 103,396,690 (GRCm39) |
Q213L |
possibly damaging |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cfap126 |
T |
C |
1: 170,953,769 (GRCm39) |
I113T |
probably damaging |
Het |
Clk4 |
A |
G |
11: 51,158,155 (GRCm39) |
D53G |
possibly damaging |
Het |
Dab1 |
T |
C |
4: 104,577,747 (GRCm39) |
L272P |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,182,454 (GRCm39) |
|
probably null |
Het |
Dph5 |
A |
C |
3: 115,722,359 (GRCm39) |
D279A |
probably benign |
Het |
Fbxw19 |
T |
A |
9: 109,307,717 (GRCm39) |
T461S |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gcg |
T |
C |
2: 62,307,282 (GRCm39) |
D93G |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,901,365 (GRCm39) |
T395A |
probably damaging |
Het |
H2-Ob |
A |
G |
17: 34,461,633 (GRCm39) |
D124G |
probably damaging |
Het |
Itga8 |
G |
T |
2: 12,237,697 (GRCm39) |
A341E |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,634,831 (GRCm39) |
|
probably null |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kif2c |
C |
T |
4: 117,029,489 (GRCm39) |
R215Q |
possibly damaging |
Het |
Letm1 |
A |
C |
5: 33,919,074 (GRCm39) |
|
probably benign |
Het |
Lypd8l |
T |
C |
11: 58,503,331 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nfib |
A |
C |
4: 82,416,775 (GRCm39) |
Y87D |
probably damaging |
Het |
Nlrp4a |
T |
C |
7: 26,162,045 (GRCm39) |
|
probably benign |
Het |
Nsmce1 |
A |
T |
7: 125,071,408 (GRCm39) |
|
probably benign |
Het |
Odad2 |
T |
A |
18: 7,286,758 (GRCm39) |
I158F |
probably benign |
Het |
Or7g12 |
T |
G |
9: 18,899,551 (GRCm39) |
V89G |
probably benign |
Het |
Or7g27 |
A |
T |
9: 19,250,475 (GRCm39) |
T240S |
probably damaging |
Het |
Patj |
C |
A |
4: 98,576,393 (GRCm39) |
Q1193K |
probably damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,455,596 (GRCm39) |
V659M |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pmis2 |
T |
C |
7: 30,370,817 (GRCm39) |
I46V |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,509,216 (GRCm39) |
|
probably benign |
Het |
Prom2 |
A |
G |
2: 127,370,709 (GRCm39) |
F825S |
probably damaging |
Het |
Rab11fip2 |
G |
A |
19: 59,894,675 (GRCm39) |
A524V |
possibly damaging |
Het |
Rb1cc1 |
A |
C |
1: 6,333,491 (GRCm39) |
|
probably null |
Het |
Rwdd3 |
G |
C |
3: 120,952,668 (GRCm39) |
Q180E |
possibly damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Sgcg |
A |
T |
14: 61,459,135 (GRCm39) |
C265S |
probably damaging |
Het |
Slc16a3 |
T |
C |
11: 120,848,878 (GRCm39) |
S445P |
possibly damaging |
Het |
Slc22a3 |
G |
A |
17: 12,677,380 (GRCm39) |
Q263* |
probably null |
Het |
Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
Tbc1d15 |
T |
C |
10: 115,055,077 (GRCm39) |
K322E |
probably damaging |
Het |
Tecta |
G |
T |
9: 42,284,369 (GRCm39) |
F905L |
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,636,853 (GRCm39) |
I184V |
possibly damaging |
Het |
Ttf1 |
A |
G |
2: 28,955,419 (GRCm39) |
H261R |
possibly damaging |
Het |
Ttll6 |
T |
A |
11: 96,036,417 (GRCm39) |
L349M |
probably damaging |
Het |
Ubac2 |
G |
A |
14: 122,211,031 (GRCm39) |
V134M |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r25 |
T |
G |
6: 123,829,008 (GRCm39) |
I89L |
probably benign |
Het |
Vmn2r6 |
A |
C |
3: 64,463,723 (GRCm39) |
F370L |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,445,748 (GRCm39) |
Y412* |
probably null |
Het |
Zfp142 |
A |
G |
1: 74,624,570 (GRCm39) |
S85P |
possibly damaging |
Het |
Zfp516 |
G |
A |
18: 82,975,579 (GRCm39) |
|
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACTTCTGGCACAGGACACACTAC -3'
(R):5'- AGCCTGATGCGGTTTCCTAGCAAC -3'
Sequencing Primer
(F):5'- ACACTACCCCCTGCCTTTAG -3'
(R):5'- tgtgatggtggcagttagag -3'
|
Posted On |
2013-05-23 |