Incidental Mutation 'R3924:Csad'
| ID |
307107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csad
|
| Ensembl Gene |
ENSMUSG00000023044 |
| Gene Name |
cysteine sulfinic acid decarboxylase |
| Synonyms |
|
| MMRRC Submission |
040915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102085432-102112685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102086991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 427
(S427G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023805]
[ENSMUST00000230288]
[ENSMUST00000230322]
[ENSMUST00000230708]
[ENSMUST00000231048]
|
| AlphaFold |
Q9DBE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023805
AA Change: S427G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: S427G
| 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 |
noncoding transcript
Transcript: ENSMUST00000230253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230708
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231029
AA Change: S40G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231048
|
| Meta Mutation Damage Score |
0.0766 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (39/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,343,705 (GRCm39) |
V119F |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,221 (GRCm39) |
V533D |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Aldh3b3 |
A |
G |
19: 4,018,491 (GRCm39) |
N402S |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Arpin |
A |
G |
7: 79,579,435 (GRCm39) |
Y63H |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,073,778 (GRCm39) |
L781P |
probably damaging |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,339 (GRCm39) |
V443A |
probably damaging |
Het |
| Dlat |
A |
G |
9: 50,569,490 (GRCm39) |
S160P |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,098 (GRCm39) |
R165G |
possibly damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Fa2h |
A |
G |
8: 112,120,147 (GRCm39) |
Y80H |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,610,902 (GRCm39) |
F509S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,221 (GRCm39) |
S350P |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,799,596 (GRCm39) |
|
probably benign |
Het |
| Gm3604 |
A |
G |
13: 62,518,044 (GRCm39) |
S105P |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,200,420 (GRCm39) |
L362F |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,149,624 (GRCm39) |
V86A |
probably benign |
Het |
| Lpcat4 |
G |
T |
2: 112,077,061 (GRCm39) |
Q468H |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,168 (GRCm39) |
I797T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,963 (GRCm39) |
I912F |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,029,350 (GRCm39) |
G1038* |
probably null |
Het |
| Nptx1 |
G |
T |
11: 119,438,333 (GRCm39) |
T28N |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,516,105 (GRCm39) |
N317S |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,434 (GRCm39) |
M417V |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,698,607 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rasd2 |
A |
G |
8: 75,948,602 (GRCm39) |
N176S |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,124,785 (GRCm39) |
V339A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,859,048 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,827 (GRCm39) |
W676R |
probably benign |
Het |
| Sipa1 |
G |
A |
19: 5,710,407 (GRCm39) |
T201I |
probably benign |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Zfp946 |
G |
T |
17: 22,674,682 (GRCm39) |
G479C |
probably benign |
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 |
|
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 |
|
|
R7742:Csad
|
UTSW |
15 |
102,095,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTGGTGACTTCCTCTGGTAACC -3'
(R):5'- TGTTCCAGACATGAAGCCTC -3'
Sequencing Primer
(F):5'- AGAAATATATTTTTCTCCCTACCTGC -3'
(R):5'- TGTTCCAGACATGAAGCCTCATAAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation