Incidental Mutation 'R8990:Cbs'
| ID |
684381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbs
|
| Ensembl Gene |
ENSMUSG00000024039 |
| Gene Name |
cystathionine beta-synthase |
| Synonyms |
HIP4 |
| MMRRC Submission |
068822-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R8990 (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 31834523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 489
(T489A)
|
| 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: T489A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: T489A
| 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: T489A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: T489A
| 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: T489A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: T489A
| 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 |
|
| Meta Mutation Damage Score |
0.0620 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| Abcb11 |
C |
T |
2: 69,104,494 (GRCm39) |
V731M |
|
Het |
| Ank2 |
A |
G |
3: 126,841,829 (GRCm39) |
|
probably null |
Het |
| Ano8 |
G |
C |
8: 71,929,201 (GRCm39) |
P1004R |
unknown |
Het |
| Aopep |
G |
A |
13: 63,304,428 (GRCm39) |
C480Y |
probably damaging |
Het |
| Asnsd1 |
C |
T |
1: 53,385,901 (GRCm39) |
G491D |
probably damaging |
Het |
| Atp6v1c2 |
A |
G |
12: 17,341,647 (GRCm39) |
V248A |
probably benign |
Het |
| BC035947 |
C |
T |
1: 78,475,486 (GRCm39) |
V349M |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,630 (GRCm39) |
D17G |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,975,370 (GRCm39) |
S681P |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,208,655 (GRCm39) |
K533R |
probably benign |
Het |
| Cenpx |
A |
G |
11: 120,602,591 (GRCm39) |
F53S |
unknown |
Het |
| Col4a4 |
A |
G |
1: 82,473,555 (GRCm39) |
S657P |
unknown |
Het |
| Csnk2a1 |
A |
G |
2: 152,096,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,427,168 (GRCm39) |
R748* |
probably null |
Het |
| Diaph1 |
A |
T |
18: 37,988,857 (GRCm39) |
L959H |
probably damaging |
Het |
| Dnaaf5 |
T |
G |
5: 139,155,951 (GRCm39) |
L544R |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,814,057 (GRCm39) |
D399G |
|
Het |
| Eif2b4 |
T |
C |
5: 31,347,971 (GRCm39) |
E247G |
probably benign |
Het |
| Fmnl2 |
T |
C |
2: 53,016,971 (GRCm39) |
I1050T |
unknown |
Het |
| Gm10272 |
T |
A |
10: 77,542,658 (GRCm39) |
S67T |
probably damaging |
Het |
| Gm32742 |
G |
A |
9: 51,058,802 (GRCm39) |
P1072S |
probably damaging |
Het |
| Hdac11 |
T |
A |
6: 91,145,799 (GRCm39) |
L151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,841,752 (GRCm39) |
D80G |
possibly damaging |
Het |
| Kazn |
T |
C |
4: 141,868,947 (GRCm39) |
D413G |
probably damaging |
Het |
| Kcnc1 |
T |
A |
7: 46,077,733 (GRCm39) |
*512R |
probably null |
Het |
| Kcnf1 |
G |
A |
12: 17,225,336 (GRCm39) |
T295I |
probably benign |
Het |
| Klhl9 |
A |
G |
4: 88,640,205 (GRCm39) |
V12A |
probably benign |
Het |
| Klk6 |
T |
A |
7: 43,476,254 (GRCm39) |
H31Q |
probably benign |
Het |
| Ldhal6b |
A |
T |
17: 5,468,020 (GRCm39) |
S305T |
probably damaging |
Het |
| Lta4h |
C |
A |
10: 93,314,315 (GRCm39) |
D462E |
probably damaging |
Het |
| Ly75 |
T |
G |
2: 60,188,903 (GRCm39) |
R274S |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,218,380 (GRCm39) |
T527A |
probably benign |
Het |
| Mn1 |
A |
G |
5: 111,566,381 (GRCm39) |
N117S |
possibly damaging |
Het |
| Mrgprd |
T |
C |
7: 144,875,915 (GRCm39) |
V262A |
probably benign |
Het |
| Mtres1 |
A |
G |
10: 43,401,233 (GRCm39) |
S239P |
unknown |
Het |
| Muc4 |
C |
A |
16: 32,574,009 (GRCm39) |
H696N |
probably benign |
Het |
| Nlrp3 |
A |
T |
11: 59,439,584 (GRCm39) |
Q387L |
probably damaging |
Het |
| Nme7 |
A |
G |
1: 164,155,902 (GRCm39) |
D34G |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,007,988 (GRCm39) |
L250* |
probably null |
Het |
| Or13p8 |
T |
C |
4: 118,584,224 (GRCm39) |
V260A |
probably benign |
Het |
| Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,879,364 (GRCm39) |
D973G |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,264,471 (GRCm39) |
Y120H |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,824,273 (GRCm39) |
T627S |
unknown |
Het |
| Pkhd1 |
A |
G |
1: 20,417,529 (GRCm39) |
S2541P |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,102,047 (GRCm39) |
S91P |
probably damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,106,833 (GRCm39) |
R229C |
probably damaging |
Het |
| Sectm1a |
G |
T |
11: 120,960,701 (GRCm39) |
T38K |
probably damaging |
Het |
| Serpinb2 |
A |
T |
1: 107,450,428 (GRCm39) |
I142F |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,895 (GRCm39) |
V112E |
possibly damaging |
Het |
| Snap23 |
G |
T |
2: 120,415,516 (GRCm39) |
|
probably benign |
Het |
| Sp8 |
T |
A |
12: 118,813,122 (GRCm39) |
Y326N |
possibly damaging |
Het |
| Speer4c2 |
G |
A |
5: 15,858,598 (GRCm39) |
R141C |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
| Trpc2 |
T |
C |
7: 101,745,195 (GRCm39) |
Y804H |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,485 (GRCm39) |
N562S |
possibly damaging |
Het |
| Trpm6 |
G |
A |
19: 18,792,799 (GRCm39) |
G741E |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,570,759 (GRCm39) |
H37Q |
probably damaging |
Het |
| Vmn1r174 |
G |
T |
7: 23,453,956 (GRCm39) |
M207I |
possibly damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
|
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 |
|
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'- TGTGTACCACGAGAACCTGG -3'
(R):5'- ACCAGAAAGCCATGGAGTTG -3'
Sequencing Primer
(F):5'- ACGAGAACCTGGGCCAG -3'
(R):5'- CCATGGAGTTGGAGTCAAATCTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation