Incidental Mutation 'R1586:Cbs'
| ID |
177532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbs
|
| Ensembl Gene |
ENSMUSG00000024039 |
| Gene Name |
cystathionine beta-synthase |
| Synonyms |
HIP4 |
| MMRRC Submission |
039623-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
R1586 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31831602-31856170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31841448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 258
(I258F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067801]
[ENSMUST00000078509]
[ENSMUST00000118504]
[ENSMUST00000135425]
[ENSMUST00000155814]
|
| AlphaFold |
Q91WT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067801
AA Change: I258F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: I258F
| 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 damaging
Transcript: ENSMUST00000078509
AA Change: I258F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: I258F
| 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 damaging
Transcript: ENSMUST00000118504
AA Change: I258F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: I258F
| 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: ENSMUST00000128351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135425
|
| SMART Domains |
Protein: ENSMUSP00000118785
Gene: ENSMUSG00000024039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
77 |
175 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155814
|
| SMART Domains |
Protein: ENSMUSP00000118472
Gene: ENSMUSG00000024039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
77 |
193 |
2.3e-32 |
PFAM |
|
| Meta Mutation Damage Score |
0.8574 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
93% (65/70) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,337,228 (GRCm39) |
A2361V |
probably damaging |
Het |
| Alpi |
A |
G |
1: 87,027,923 (GRCm39) |
I219T |
probably damaging |
Het |
| Anapc10 |
T |
A |
8: 80,501,772 (GRCm39) |
M180K |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,713,708 (GRCm39) |
I431V |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,815,894 (GRCm39) |
D182E |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,678,808 (GRCm39) |
I945F |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,882,570 (GRCm39) |
S1019P |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,985,386 (GRCm39) |
S277P |
probably damaging |
Het |
| Cidea |
T |
A |
18: 67,493,230 (GRCm39) |
V83E |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,516,477 (GRCm39) |
I373T |
possibly damaging |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,317,147 (GRCm39) |
N122S |
probably benign |
Het |
| Dmap1 |
T |
C |
4: 117,533,319 (GRCm39) |
E245G |
probably damaging |
Het |
| Epha2 |
C |
T |
4: 141,045,916 (GRCm39) |
|
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,347 (GRCm39) |
L303F |
probably damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,542,492 (GRCm39) |
D105G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,009 (GRCm39) |
L634Q |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,423 (GRCm39) |
F279L |
probably damaging |
Het |
| Guk1 |
A |
G |
11: 59,077,675 (GRCm39) |
S22P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,762,934 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,403,639 (GRCm39) |
S727T |
probably benign |
Het |
| Mki67 |
T |
A |
7: 135,315,701 (GRCm39) |
K54* |
probably null |
Het |
| Ms4a8a |
T |
C |
19: 11,053,696 (GRCm39) |
T137A |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,174,313 (GRCm39) |
Y557H |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,689,115 (GRCm39) |
K387N |
probably damaging |
Het |
| Oga |
T |
G |
19: 45,765,349 (GRCm39) |
T153P |
possibly damaging |
Het |
| Or5bb10 |
G |
T |
19: 12,206,241 (GRCm39) |
A223E |
probably damaging |
Het |
| Pde4c |
T |
A |
8: 71,199,508 (GRCm39) |
Y223N |
probably damaging |
Het |
| Psd |
T |
G |
19: 46,303,237 (GRCm39) |
E715A |
probably damaging |
Het |
| Rpl7 |
A |
T |
1: 16,172,807 (GRCm39) |
S171T |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,116,112 (GRCm39) |
*66W |
probably null |
Het |
| Scgb1b3 |
T |
A |
7: 31,075,388 (GRCm39) |
H79Q |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,199,469 (GRCm39) |
M255L |
probably benign |
Het |
| Slc35a4 |
T |
C |
18: 36,816,058 (GRCm39) |
V296A |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,722,596 (GRCm39) |
A9T |
possibly damaging |
Het |
| Snx11 |
C |
A |
11: 96,661,522 (GRCm39) |
W161L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,929,068 (GRCm39) |
K533E |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,512 (GRCm39) |
I282V |
probably benign |
Het |
| Speer4b |
A |
G |
5: 27,702,011 (GRCm39) |
S250P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,041,061 (GRCm39) |
H1287L |
probably benign |
Het |
| Surf2 |
T |
C |
2: 26,809,767 (GRCm39) |
F239S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,235,852 (GRCm39) |
|
probably null |
Het |
| Tbcd |
A |
G |
11: 121,387,886 (GRCm39) |
Q339R |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 45,994,445 (GRCm39) |
H281R |
probably benign |
Het |
| Tomm5 |
A |
G |
4: 45,107,915 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
T |
C |
17: 87,669,373 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
A |
T |
5: 110,937,382 (GRCm39) |
F638Y |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,409,195 (GRCm39) |
I612N |
probably damaging |
Het |
| Wdr93 |
C |
A |
7: 79,418,109 (GRCm39) |
D277E |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,477 (GRCm39) |
R583G |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,641 (GRCm39) |
I716F |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCCAGATTCCTACCAGGTGAC -3'
(R):5'- AGTGCAGAAAGCAGCTCCTTCG -3'
Sequencing Primer
(F):5'- TTCCTACCAGGTGACTGGAAATG -3'
(R):5'- AAGCAGCTCCTTCGCCATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation