Incidental Mutation 'R8237:Cbs'
| ID |
637443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbs
|
| Ensembl Gene |
ENSMUSG00000024039 |
| Gene Name |
cystathionine beta-synthase |
| Synonyms |
HIP4 |
| MMRRC Submission |
067669-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
R8237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31834454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 512
(I512V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067801]
[ENSMUST00000078509]
[ENSMUST00000118504]
|
| AlphaFold |
Q91WT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067801
AA Change: I512V
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: I512V
| 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: I512V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: I512V
| 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: I512V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: I512V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,373 (GRCm39) |
L285P |
probably damaging |
Het |
| Abca4 |
T |
C |
3: 121,955,952 (GRCm39) |
I1905T |
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,200,981 (GRCm39) |
I473K |
probably benign |
Het |
| Adgrl3 |
CAA |
CA |
5: 81,935,408 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
C |
A |
7: 44,550,220 (GRCm39) |
R959L |
probably damaging |
Het |
| Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
| Ccn4 |
C |
A |
15: 66,791,083 (GRCm39) |
T295N |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,897,082 (GRCm39) |
Y683H |
|
Het |
| Chd8 |
C |
T |
14: 52,450,809 (GRCm39) |
S1426N |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,782,923 (GRCm39) |
D122G |
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,842,376 (GRCm39) |
Q1772* |
probably null |
Het |
| Cspg4 |
T |
C |
9: 56,799,964 (GRCm39) |
F1576S |
probably damaging |
Het |
| Ctse |
T |
A |
1: 131,590,467 (GRCm39) |
V63E |
probably benign |
Het |
| Dnah3 |
G |
T |
7: 119,525,636 (GRCm39) |
T3917N |
probably benign |
Het |
| Dst |
C |
T |
1: 34,208,874 (GRCm39) |
T1124M |
possibly damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,306,785 (GRCm39) |
Q59R |
probably damaging |
Het |
| Fsip1 |
A |
G |
2: 118,063,483 (GRCm39) |
S329P |
probably damaging |
Het |
| Ginm1 |
G |
T |
10: 7,668,419 (GRCm39) |
S56R |
unknown |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,871,124 (GRCm39) |
D2815G |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,047 (GRCm39) |
V217A |
probably damaging |
Het |
| Hsd3b1 |
C |
T |
3: 98,760,426 (GRCm39) |
M188I |
possibly damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,876 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
C |
2: 79,487,614 (GRCm39) |
S566P |
probably benign |
Het |
| Kif1b |
T |
A |
4: 149,275,642 (GRCm39) |
N1423I |
probably benign |
Het |
| Lmntd1 |
G |
A |
6: 145,373,146 (GRCm39) |
T129M |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,839,854 (GRCm39) |
T414S |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,741,786 (GRCm39) |
D3161G |
|
Het |
| Lyst |
T |
C |
13: 13,826,317 (GRCm39) |
I1608T |
probably benign |
Het |
| Map9 |
C |
T |
3: 82,284,467 (GRCm39) |
P347L |
probably damaging |
Het |
| Mixl1 |
G |
A |
1: 180,524,322 (GRCm39) |
Q86* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,411,697 (GRCm39) |
S1548P |
unknown |
Het |
| Myo15b |
A |
G |
11: 115,767,827 (GRCm39) |
K1376E |
|
Het |
| Nlrc5 |
A |
G |
8: 95,252,753 (GRCm39) |
T105A |
unknown |
Het |
| Npepps |
A |
G |
11: 97,139,026 (GRCm39) |
|
probably null |
Het |
| Nup205 |
T |
A |
6: 35,204,438 (GRCm39) |
F1441L |
possibly damaging |
Het |
| Or5p69 |
A |
C |
7: 107,967,234 (GRCm39) |
H179P |
probably damaging |
Het |
| Pbx4 |
A |
G |
8: 70,317,093 (GRCm39) |
T117A |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,976,514 (GRCm39) |
T234S |
unknown |
Het |
| Pik3r2 |
G |
A |
8: 71,224,794 (GRCm39) |
A194V |
probably benign |
Het |
| Plaat1 |
C |
A |
16: 29,039,106 (GRCm39) |
T62K |
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Plpp2 |
G |
A |
10: 79,363,294 (GRCm39) |
A235V |
possibly damaging |
Het |
| Prkce |
G |
T |
17: 86,866,646 (GRCm39) |
R502L |
probably damaging |
Het |
| Psrc1 |
C |
T |
3: 108,293,930 (GRCm39) |
A249V |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,124,841 (GRCm39) |
C347R |
probably damaging |
Het |
| Serpina1b |
C |
A |
12: 103,785,063 (GRCm39) |
|
probably null |
Het |
| Spcs1 |
C |
G |
14: 30,722,658 (GRCm39) |
A113P |
noncoding transcript |
Het |
| Stxbp2 |
C |
T |
8: 3,685,695 (GRCm39) |
T247M |
|
Het |
| Tex15 |
A |
G |
8: 34,067,427 (GRCm39) |
T2286A |
possibly damaging |
Het |
| Usp45 |
T |
G |
4: 21,834,274 (GRCm39) |
V736G |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,340 (GRCm39) |
S415P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,578,269 (GRCm39) |
E948G |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,226 (GRCm39) |
C468S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,016,544 (GRCm39) |
E775G |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,250,677 (GRCm39) |
R283G |
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 |
|
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 |
|
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'- ACCAGGACTCAGGATGTCAG -3'
(R):5'- AATTTACCTGAGCAGCTATGGC -3'
Sequencing Primer
(F):5'- ACTCAGGATGTCAGATGCTATG -3'
(R):5'- CTATGGCGAGCGTTGTGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation