Incidental Mutation 'R7742:Csad'
ID |
596627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csad
|
Ensembl Gene |
ENSMUSG00000023044 |
Gene Name |
cysteine sulfinic acid decarboxylase |
Synonyms |
|
MMRRC Submission |
045798-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7742 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
102085432-102112685 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102095599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 153
(S153P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023805]
[ENSMUST00000229043]
[ENSMUST00000229252]
[ENSMUST00000229345]
[ENSMUST00000229470]
[ENSMUST00000229514]
[ENSMUST00000229770]
[ENSMUST00000229938]
[ENSMUST00000230288]
[ENSMUST00000230322]
[ENSMUST00000230656]
[ENSMUST00000230687]
[ENSMUST00000230708]
[ENSMUST00000231030]
[ENSMUST00000231048]
|
AlphaFold |
Q9DBE0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023805
AA Change: S153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023805 Gene: ENSMUSG00000023044 AA Change: S153P
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
49 |
417 |
1.4e-113 |
PFAM |
Pfam:Aminotran_5
|
120 |
281 |
4.9e-7 |
PFAM |
low complexity region
|
482 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229043
AA Change: S153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229252
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229345
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229470
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229514
AA Change: S153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229938
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230288
AA Change: S153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230322
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230342
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230656
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230687
AA Change: S153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230708
AA Change: S14P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231030
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231048
AA Change: S153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9588 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,714 (GRCm39) |
K417R |
possibly damaging |
Het |
Adgrl2 |
A |
T |
3: 148,542,064 (GRCm39) |
I886N |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,133,928 (GRCm39) |
T417A |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,538 (GRCm39) |
M1V |
probably null |
Het |
Col3a1 |
A |
G |
1: 45,384,161 (GRCm39) |
H1155R |
unknown |
Het |
Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
Dmtf1 |
C |
T |
5: 9,172,457 (GRCm39) |
|
probably benign |
Het |
Dna2 |
T |
C |
10: 62,809,073 (GRCm39) |
I1055T |
probably benign |
Het |
Dnai4 |
C |
T |
4: 102,947,630 (GRCm39) |
M215I |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,076,232 (GRCm39) |
D2975G |
probably benign |
Het |
Eif1ad7 |
A |
T |
12: 88,238,476 (GRCm39) |
Y95N |
probably damaging |
Het |
F5 |
G |
T |
1: 164,035,453 (GRCm39) |
V1876F |
possibly damaging |
Het |
Fam81b |
T |
A |
13: 76,399,809 (GRCm39) |
I150F |
probably damaging |
Het |
Fbl |
T |
A |
7: 27,877,684 (GRCm39) |
V252E |
probably damaging |
Het |
Fbln1 |
A |
G |
15: 85,124,917 (GRCm39) |
D475G |
probably damaging |
Het |
Fshr |
T |
A |
17: 89,293,590 (GRCm39) |
I363F |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,568,635 (GRCm39) |
L1328P |
probably damaging |
Het |
Hcfc2 |
T |
A |
10: 82,547,659 (GRCm39) |
|
probably null |
Het |
Ifi209 |
C |
A |
1: 173,470,198 (GRCm39) |
T262K |
probably damaging |
Het |
Kif2b |
T |
A |
11: 91,467,411 (GRCm39) |
I291F |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 40,712,641 (GRCm39) |
D3231V |
|
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nudcd1 |
T |
C |
15: 44,268,754 (GRCm39) |
K209E |
probably benign |
Het |
Nup98 |
C |
T |
7: 101,802,464 (GRCm39) |
|
probably null |
Het |
Odad3 |
T |
C |
9: 21,904,193 (GRCm39) |
D361G |
possibly damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,829 (GRCm39) |
Q65R |
probably damaging |
Het |
Or2j6 |
T |
A |
7: 139,980,234 (GRCm39) |
I242F |
probably benign |
Het |
Pign |
T |
C |
1: 105,480,122 (GRCm39) |
I851V |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,341,204 (GRCm39) |
L19Q |
unknown |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
Prkcg |
T |
C |
7: 3,378,459 (GRCm39) |
I627T |
possibly damaging |
Het |
Prl7b1 |
A |
T |
13: 27,791,031 (GRCm39) |
M18K |
probably benign |
Het |
Ptpn3 |
T |
A |
4: 57,265,092 (GRCm39) |
|
probably null |
Het |
Rp1 |
A |
T |
1: 4,240,457 (GRCm39) |
F899I |
unknown |
Het |
Sis |
T |
A |
3: 72,832,431 (GRCm39) |
Y1026F |
probably benign |
Het |
Slc4a10 |
T |
G |
2: 62,127,194 (GRCm39) |
V879G |
probably damaging |
Het |
Specc1l |
T |
C |
10: 75,082,251 (GRCm39) |
I549T |
probably benign |
Het |
Spmip11 |
T |
A |
15: 98,483,250 (GRCm39) |
V60E |
probably damaging |
Het |
Sprr2a3 |
G |
A |
3: 92,196,066 (GRCm39) |
V58M |
unknown |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Syne2 |
C |
T |
12: 76,106,209 (GRCm39) |
H785Y |
probably benign |
Het |
Tat |
T |
A |
8: 110,718,242 (GRCm39) |
N42K |
probably benign |
Het |
Tmem184a |
C |
T |
5: 139,792,744 (GRCm39) |
A271T |
probably benign |
Het |
Tmprss11d |
T |
C |
5: 86,451,493 (GRCm39) |
I411V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,733,872 (GRCm39) |
I4468V |
unknown |
Het |
Vcam1 |
T |
C |
3: 115,909,734 (GRCm39) |
N531S |
possibly damaging |
Het |
Vmn1r257 |
C |
T |
7: 22,391,343 (GRCm39) |
V134I |
probably benign |
Het |
Xcl1 |
T |
C |
1: 164,763,041 (GRCm39) |
T7A |
unknown |
Het |
Zc3h11a |
A |
G |
1: 133,565,173 (GRCm39) |
V242A |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,971,025 (GRCm39) |
Y335N |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,731,731 (GRCm39) |
I675V |
unknown |
Het |
|
Other mutations in Csad |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01563:Csad
|
APN |
15 |
102,095,598 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01769:Csad
|
APN |
15 |
102,088,516 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02254:Csad
|
APN |
15 |
102,094,872 (GRCm39) |
nonsense |
probably null |
|
dejavu
|
UTSW |
15 |
102,088,407 (GRCm39) |
missense |
probably damaging |
1.00 |
dell
|
UTSW |
15 |
102,087,041 (GRCm39) |
missense |
probably damaging |
1.00 |
farmer
|
UTSW |
15 |
102,095,599 (GRCm39) |
missense |
probably damaging |
1.00 |
lenovo
|
UTSW |
15 |
102,087,469 (GRCm39) |
missense |
probably null |
1.00 |
PIT4382001:Csad
|
UTSW |
15 |
102,097,085 (GRCm39) |
missense |
probably benign |
0.00 |
R0701:Csad
|
UTSW |
15 |
102,087,571 (GRCm39) |
missense |
probably benign |
0.42 |
R1595:Csad
|
UTSW |
15 |
102,086,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Csad
|
UTSW |
15 |
102,088,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Csad
|
UTSW |
15 |
102,087,469 (GRCm39) |
missense |
probably null |
1.00 |
R2196:Csad
|
UTSW |
15 |
102,096,028 (GRCm39) |
missense |
probably benign |
0.00 |
R2275:Csad
|
UTSW |
15 |
102,095,557 (GRCm39) |
missense |
probably damaging |
0.98 |
R2504:Csad
|
UTSW |
15 |
102,097,102 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
R2928:Csad
|
UTSW |
15 |
102,086,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R3924:Csad
|
UTSW |
15 |
102,086,991 (GRCm39) |
missense |
probably benign |
0.05 |
R6235:Csad
|
UTSW |
15 |
102,087,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R6418:Csad
|
UTSW |
15 |
102,087,958 (GRCm39) |
missense |
probably damaging |
0.96 |
R7612:Csad
|
UTSW |
15 |
102,097,357 (GRCm39) |
unclassified |
probably benign |
|
R8158:Csad
|
UTSW |
15 |
102,086,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:Csad
|
UTSW |
15 |
102,097,102 (GRCm39) |
start codon destroyed |
probably null |
0.45 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCGGCCTCCTTAGAAGGG -3'
(R):5'- GAAATGTGCTATTTGTGAACCCTG -3'
Sequencing Primer
(F):5'- AAGACTTGAAGGGTCTCTGACTG -3'
(R):5'- AACCCTGGGAATTTGTGGC -3'
|
Posted On |
2019-11-26 |