Incidental Mutation 'IGL03128:Cth'
| ID |
410219 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cth
|
| Ensembl Gene |
ENSMUSG00000028179 |
| Gene Name |
cystathionine gamma lyase |
| Synonyms |
CSE, 0610010I13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
157599885-157630714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 157626672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 56
(G56D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118539]
|
| AlphaFold |
Q8VCN5 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000029827
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118539
AA Change: G56D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: G56D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cys_Met_Meta_PP
|
18 |
394 |
5.8e-157 |
PFAM |
|
Pfam:Aminotran_1_2
|
32 |
235 |
4.3e-9 |
PFAM |
|
Pfam:DegT_DnrJ_EryC1
|
53 |
246 |
1.9e-7 |
PFAM |
|
Pfam:Aminotran_5
|
68 |
232 |
4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198623
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit hypertension associated with impaired endothelium-dependent vasorelaxation. Mice homozygous for another knock-out allele exhibit normal blood pressure but sensitivty to a low cysteine diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,072,829 (GRCm39) |
L114M |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,159,260 (GRCm39) |
|
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,959 (GRCm39) |
I226N |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,883,621 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,909,491 (GRCm39) |
M271K |
probably benign |
Het |
| Fam78b |
T |
A |
1: 166,906,510 (GRCm39) |
L223Q |
probably damaging |
Het |
| Fgl2 |
A |
T |
5: 21,578,291 (GRCm39) |
M193L |
probably benign |
Het |
| Ifi205 |
A |
T |
1: 173,842,652 (GRCm39) |
V348E |
probably damaging |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,998 (GRCm39) |
K74N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,960,480 (GRCm39) |
K1355M |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,832 (GRCm39) |
N576K |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,395,005 (GRCm39) |
|
probably null |
Het |
| Nfic |
T |
C |
10: 81,242,025 (GRCm39) |
T328A |
probably benign |
Het |
| Npat |
T |
A |
9: 53,461,333 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,798 (GRCm39) |
I524V |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,054 (GRCm39) |
E486K |
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,678,884 (GRCm39) |
H216Y |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,174,337 (GRCm39) |
P31Q |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,518,608 (GRCm39) |
|
probably benign |
Het |
| Raver1 |
A |
T |
9: 20,992,038 (GRCm39) |
L385Q |
probably damaging |
Het |
| Slc10a7 |
C |
A |
8: 79,251,846 (GRCm39) |
T80K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,802,282 (GRCm39) |
K272R |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,615,708 (GRCm39) |
I200V |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,892,714 (GRCm39) |
N4S |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,781 (GRCm39) |
S356P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,891,829 (GRCm39) |
Y903C |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,268,795 (GRCm39) |
F333V |
probably damaging |
Het |
|
| Other mutations in Cth |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Cth
|
APN |
3 |
157,610,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01744:Cth
|
APN |
3 |
157,630,572 (GRCm39) |
missense |
probably benign |
|
|
R0477:Cth
|
UTSW |
3 |
157,610,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Cth
|
UTSW |
3 |
157,625,752 (GRCm39) |
splice site |
probably benign |
|
|
R1699:Cth
|
UTSW |
3 |
157,613,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1724:Cth
|
UTSW |
3 |
157,619,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Cth
|
UTSW |
3 |
157,611,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3822:Cth
|
UTSW |
3 |
157,624,136 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3937:Cth
|
UTSW |
3 |
157,625,677 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3982:Cth
|
UTSW |
3 |
157,619,334 (GRCm39) |
nonsense |
probably null |
|
|
R4342:Cth
|
UTSW |
3 |
157,630,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Cth
|
UTSW |
3 |
157,600,463 (GRCm39) |
missense |
probably benign |
|
|
R7466:Cth
|
UTSW |
3 |
157,630,522 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8348:Cth
|
UTSW |
3 |
157,630,657 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8448:Cth
|
UTSW |
3 |
157,630,657 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9441:Cth
|
UTSW |
3 |
157,616,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation