Incidental Mutation 'R4089:Cbs'
ID |
317534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cbs
|
Ensembl Gene |
ENSMUSG00000024039 |
Gene Name |
cystathionine beta-synthase |
Synonyms |
HIP4 |
MMRRC Submission |
040982-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.688)
|
Stock # |
R4089 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 31851980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 8
(C8G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117454
(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: C8G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066878 Gene: ENSMUSG00000024039 AA Change: C8G
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: C8G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077597 Gene: ENSMUSG00000024039 AA Change: C8G
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: C8G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113209 Gene: ENSMUSG00000024039 AA Change: C8G
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: ENSMUST00000135425
AA Change: C8G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118785 Gene: ENSMUSG00000024039 AA Change: C8G
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
77 |
175 |
4.1e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151718
AA Change: C8G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000117454 Gene: ENSMUSG00000024039 AA Change: C8G
Domain | Start | End | E-Value | Type |
PDB:4COO|B
|
1 |
86 |
2e-25 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155814
AA Change: C8G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118472 Gene: ENSMUSG00000024039 AA Change: C8G
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
77 |
193 |
2.3e-32 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (51/52) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
Actr5 |
T |
C |
2: 158,467,022 (GRCm39) |
|
probably benign |
Het |
Arhgef17 |
T |
A |
7: 100,533,006 (GRCm39) |
E1173V |
probably damaging |
Het |
Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
Cap1 |
A |
G |
4: 122,756,202 (GRCm39) |
V398A |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,114,323 (GRCm39) |
|
probably null |
Het |
Dock9 |
A |
T |
14: 121,820,883 (GRCm39) |
C1494S |
probably damaging |
Het |
Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,186,841 (GRCm39) |
D1687N |
probably benign |
Het |
Flt1 |
C |
A |
5: 147,501,051 (GRCm39) |
L1327F |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,341,802 (GRCm39) |
F1365S |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,371,394 (GRCm39) |
E1169G |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm14443 |
T |
C |
2: 175,013,685 (GRCm39) |
Y29C |
probably damaging |
Het |
Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
Ifngr1 |
T |
C |
10: 19,477,233 (GRCm39) |
|
probably null |
Het |
Il31ra |
C |
T |
13: 112,688,453 (GRCm39) |
W41* |
probably null |
Het |
Ints4 |
T |
A |
7: 97,178,462 (GRCm39) |
Y687* |
probably null |
Het |
Jpt2 |
A |
G |
17: 25,175,076 (GRCm39) |
S37P |
probably benign |
Het |
Kcnk9 |
A |
G |
15: 72,418,112 (GRCm39) |
V6A |
probably benign |
Het |
Lamc3 |
C |
T |
2: 31,810,520 (GRCm39) |
R797* |
probably null |
Het |
Lrig1 |
A |
G |
6: 94,586,840 (GRCm39) |
I612T |
possibly damaging |
Het |
Mapk4 |
C |
A |
18: 74,063,530 (GRCm39) |
C564F |
probably damaging |
Het |
Marveld2 |
T |
A |
13: 100,736,988 (GRCm39) |
H215L |
probably benign |
Het |
Mindy3 |
T |
C |
2: 12,369,327 (GRCm39) |
M84V |
probably benign |
Het |
Nek3 |
T |
C |
8: 22,639,929 (GRCm39) |
D182G |
probably damaging |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Pkp3 |
G |
A |
7: 140,664,056 (GRCm39) |
R411H |
probably damaging |
Het |
Plau |
A |
G |
14: 20,891,134 (GRCm39) |
D366G |
probably damaging |
Het |
Prkd3 |
A |
G |
17: 79,278,817 (GRCm39) |
M423T |
possibly damaging |
Het |
Prmt9 |
A |
T |
8: 78,299,174 (GRCm39) |
I623L |
probably benign |
Het |
Rgs6 |
A |
T |
12: 83,110,261 (GRCm39) |
E175D |
probably damaging |
Het |
Rnf135 |
G |
A |
11: 80,089,872 (GRCm39) |
G403S |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,624,719 (GRCm39) |
|
probably null |
Het |
Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
Sox10 |
C |
T |
15: 79,040,563 (GRCm39) |
V165M |
possibly damaging |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Tex14 |
A |
G |
11: 87,403,029 (GRCm39) |
D533G |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,201,700 (GRCm39) |
|
probably null |
Het |
Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
Trip4 |
A |
G |
9: 65,765,565 (GRCm39) |
V378A |
probably benign |
Het |
Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
Washc2 |
A |
T |
6: 116,233,253 (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 |
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 |
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'- ACTTACAGCACTGTGTGATAATGTG -3'
(R):5'- TTCAATTGCTGCGTCAGATGG -3'
Sequencing Primer
(F):5'- ATAATGTGGGGAGTCCGCC -3'
(R):5'- CGTCAGATGGTAGTTTATGTTTAACC -3'
|
Posted On |
2015-05-15 |