Incidental Mutation 'R5029:Cbs'
| ID |
391589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbs
|
| Ensembl Gene |
ENSMUSG00000024039 |
| Gene Name |
cystathionine beta-synthase |
| Synonyms |
HIP4 |
| MMRRC Submission |
042620-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R5029 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31834456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 511
(Q511L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067801]
[ENSMUST00000078509]
[ENSMUST00000118504]
|
| AlphaFold |
Q91WT9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067801
AA Change: Q511L
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: Q511L
| 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: Q511L
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: Q511L
| 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: Q511L
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: Q511L
| 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: ENSMUST00000151597
|
| Meta Mutation Damage Score |
0.4185 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (61/63) |
| 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 |
|---|
| Actbl2 |
T |
A |
13: 111,392,127 (GRCm39) |
M154K |
probably benign |
Het |
| Ank |
T |
C |
15: 27,590,439 (GRCm39) |
V341A |
probably benign |
Het |
| Bnip3 |
T |
A |
7: 138,499,848 (GRCm39) |
|
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,931 (GRCm39) |
K4E |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,897 (GRCm39) |
H109R |
possibly damaging |
Het |
| Cdh4 |
T |
A |
2: 179,523,742 (GRCm39) |
V440D |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,054,962 (GRCm39) |
N109S |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,114 (GRCm39) |
S695R |
probably benign |
Het |
| Defa21 |
A |
T |
8: 21,516,381 (GRCm39) |
E75V |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,093,630 (GRCm39) |
D274G |
probably null |
Het |
| Dstyk |
G |
T |
1: 132,377,062 (GRCm39) |
V223L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,444 (GRCm39) |
S616T |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,515,769 (GRCm39) |
I1619F |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,926,341 (GRCm39) |
Y83F |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hpx |
T |
G |
7: 105,240,971 (GRCm39) |
Y434S |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,158,981 (GRCm39) |
D451G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,879,417 (GRCm39) |
|
probably benign |
Het |
| Jph1 |
T |
A |
1: 17,161,615 (GRCm39) |
N349I |
possibly damaging |
Het |
| Klrg1 |
A |
G |
6: 122,259,694 (GRCm39) |
L26P |
probably benign |
Het |
| M1ap |
A |
C |
6: 82,980,813 (GRCm39) |
D233A |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,393,946 (GRCm39) |
S2762P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,489 (GRCm39) |
Q1556L |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,972,123 (GRCm39) |
D1428G |
probably damaging |
Het |
| Ndc80 |
A |
C |
17: 71,815,760 (GRCm39) |
C342G |
probably benign |
Het |
| Nxn |
A |
C |
11: 76,165,356 (GRCm39) |
Y199* |
probably null |
Het |
| Or6c206 |
T |
A |
10: 129,097,707 (GRCm39) |
N292K |
probably benign |
Het |
| Or7c19 |
C |
T |
8: 85,957,835 (GRCm39) |
A237V |
probably benign |
Het |
| Or8j3b |
A |
G |
2: 86,205,234 (GRCm39) |
I174T |
probably damaging |
Het |
| Pacs1 |
A |
G |
19: 5,192,299 (GRCm39) |
F691L |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,899,864 (GRCm39) |
V232A |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,936,113 (GRCm39) |
M773K |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,723 (GRCm39) |
Y1937H |
probably damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,693,304 (GRCm39) |
T603N |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,662 (GRCm39) |
Y119C |
probably damaging |
Het |
| Saraf |
G |
T |
8: 34,628,412 (GRCm39) |
R86L |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stpg3 |
T |
C |
2: 25,104,576 (GRCm39) |
N13S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,177,273 (GRCm39) |
D50E |
possibly damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,024 (GRCm39) |
N518Y |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,719,993 (GRCm39) |
|
probably null |
Het |
| Tomm70a |
T |
A |
16: 56,942,514 (GRCm39) |
L97Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,173 (GRCm39) |
V809E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,852 (GRCm39) |
I914V |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,097 (GRCm39) |
H291Q |
probably damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably damaging |
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 |
|
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'- ACACCAGGACTCAGGATGTC -3'
(R):5'- TTTACCTGAGCAGCTATGGC -3'
Sequencing Primer
(F):5'- ACTCAGGATGTCAGATGCTATG -3'
(R):5'- CTATGGCGAGCGTTGTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation