Incidental Mutation 'IGL02089:Cbs'
| ID |
279347 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cbs
|
| Ensembl Gene |
ENSMUSG00000024039 |
| Gene Name |
cystathionine beta-synthase |
| Synonyms |
HIP4 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
IGL02089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 31834519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 490
(D490A)
|
| 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: D490A
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: D490A
| 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: D490A
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: D490A
| 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: D490A
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: D490A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330160F10Rik |
C |
T |
11: 68,951,013 (GRCm39) |
|
silent |
Het |
| Adck1 |
G |
T |
12: 88,413,480 (GRCm39) |
V271F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,507,437 (GRCm39) |
D116G |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,505,853 (GRCm39) |
V661E |
probably damaging |
Het |
| Apoa5 |
T |
C |
9: 46,180,437 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
C |
T |
14: 60,264,369 (GRCm39) |
|
probably null |
Het |
| Bnipl |
A |
T |
3: 95,157,577 (GRCm39) |
|
probably benign |
Het |
| Chrdl1 |
G |
T |
X: 142,086,510 (GRCm39) |
H199N |
possibly damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,740,310 (GRCm39) |
T1232I |
probably benign |
Het |
| Ddx19b |
T |
C |
8: 111,735,477 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,369,024 (GRCm39) |
K805E |
probably damaging |
Het |
| Ergic3 |
A |
G |
2: 155,852,395 (GRCm39) |
N135D |
probably benign |
Het |
| Fbxw18 |
C |
T |
9: 109,530,390 (GRCm39) |
V74I |
probably benign |
Het |
| Fmo4 |
G |
T |
1: 162,626,649 (GRCm39) |
T299N |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,953,147 (GRCm39) |
K540E |
probably damaging |
Het |
| H60c |
T |
A |
10: 3,209,826 (GRCm39) |
S154C |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,388,151 (GRCm39) |
L3812S |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,261,724 (GRCm39) |
D937G |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,398 (GRCm39) |
D1079G |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,631,774 (GRCm39) |
W438R |
probably benign |
Het |
| Lypla2 |
C |
T |
4: 135,696,932 (GRCm39) |
V117I |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,216,220 (GRCm39) |
Y516C |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,654,213 (GRCm39) |
G397D |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
| Muc5b |
T |
G |
7: 141,416,987 (GRCm39) |
V3311G |
probably benign |
Het |
| Naca |
A |
G |
10: 127,872,358 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,395,829 (GRCm39) |
V109A |
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,053,680 (GRCm39) |
D279A |
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,934,066 (GRCm39) |
I126F |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,721,460 (GRCm39) |
S20P |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,074,361 (GRCm39) |
V305E |
possibly damaging |
Het |
| Pcdh19 |
A |
T |
X: 132,489,245 (GRCm39) |
M977K |
probably benign |
Het |
| Pdzph1 |
T |
A |
17: 59,274,334 (GRCm39) |
I837F |
possibly damaging |
Het |
| Phip |
A |
T |
9: 82,753,372 (GRCm39) |
L1791M |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,700,489 (GRCm39) |
V1816I |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,033,447 (GRCm39) |
V1063M |
probably damaging |
Het |
| Qprt |
A |
T |
7: 126,707,528 (GRCm39) |
M220K |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,937,475 (GRCm39) |
K391E |
possibly damaging |
Het |
| Rbbp7 |
C |
A |
X: 161,554,052 (GRCm39) |
P162Q |
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,701,095 (GRCm39) |
N1864I |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,669,556 (GRCm39) |
I84T |
possibly damaging |
Het |
| Rnase2b |
A |
T |
14: 51,400,240 (GRCm39) |
K107I |
probably benign |
Het |
| Sbf1 |
C |
A |
15: 89,186,708 (GRCm39) |
E864* |
probably null |
Het |
| Strip2 |
G |
A |
6: 29,917,179 (GRCm39) |
|
probably benign |
Het |
| Stx4a |
T |
C |
7: 127,447,570 (GRCm39) |
I238T |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,104,412 (GRCm39) |
V577I |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,591 (GRCm39) |
T71A |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 81,712,343 (GRCm39) |
E564G |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,280,689 (GRCm39) |
L644Q |
probably damaging |
Het |
| Zfp267 |
T |
C |
3: 36,218,877 (GRCm39) |
F300S |
possibly damaging |
Het |
| Zpld1 |
A |
G |
16: 55,071,974 (GRCm39) |
I95T |
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation