Incidental Mutation 'R2196:Csad'
| ID |
238382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csad
|
| Ensembl Gene |
ENSMUSG00000023044 |
| Gene Name |
cysteine sulfinic acid decarboxylase |
| Synonyms |
|
| MMRRC Submission |
040198-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2196 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102085432-102112685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102096028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 142
(N142D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023805]
[ENSMUST00000229043]
[ENSMUST00000229252]
[ENSMUST00000229345]
[ENSMUST00000229470]
[ENSMUST00000229514]
[ENSMUST00000229770]
[ENSMUST00000231048]
[ENSMUST00000230288]
[ENSMUST00000230322]
[ENSMUST00000230708]
[ENSMUST00000231030]
[ENSMUST00000230687]
[ENSMUST00000229938]
[ENSMUST00000230656]
|
| AlphaFold |
Q9DBE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023805
AA Change: N142D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: N142D
| 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 benign
Transcript: ENSMUST00000229043
AA Change: N142D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229252
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229470
AA Change: N142D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229514
AA Change: N142D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231048
AA Change: N142D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230288
AA Change: N142D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230322
AA Change: N142D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230708
AA Change: N3D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231030
AA Change: N142D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230687
AA Change: N142D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230656
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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 |
|---|
| Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
| Acvr2a |
A |
T |
2: 48,760,324 (GRCm39) |
T27S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,781,432 (GRCm39) |
N2161K |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,107,542 (GRCm39) |
Y350C |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,157,181 (GRCm39) |
R47S |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
| Cep112 |
G |
A |
11: 108,461,187 (GRCm39) |
E329K |
probably damaging |
Het |
| Cep55 |
T |
A |
19: 38,057,558 (GRCm39) |
Y187N |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,306,595 (GRCm39) |
I195N |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,050,698 (GRCm39) |
L2454Q |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,093,841 (GRCm39) |
E650D |
probably benign |
Het |
| Enam |
A |
G |
5: 88,650,603 (GRCm39) |
D704G |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,683 (GRCm39) |
I2220N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,566 (GRCm39) |
S3073P |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
| Gcsh |
G |
A |
8: 117,715,909 (GRCm39) |
T58M |
possibly damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,726 (GRCm39) |
Y108H |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,780,058 (GRCm39) |
I566N |
probably damaging |
Het |
| Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,141,492 (GRCm39) |
S875R |
probably benign |
Het |
| Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,336,314 (GRCm39) |
E113G |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,900,116 (GRCm39) |
E934G |
probably damaging |
Het |
| Mkx |
A |
G |
18: 7,000,675 (GRCm39) |
L89P |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,400,847 (GRCm39) |
Y2982* |
probably null |
Het |
| Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
| Nom1 |
A |
G |
5: 29,641,019 (GRCm39) |
D353G |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,353,816 (GRCm39) |
L1937* |
probably null |
Het |
| Nrxn2 |
A |
T |
19: 6,540,139 (GRCm39) |
D820V |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,032,226 (GRCm39) |
N47K |
probably benign |
Het |
| Or1j12 |
T |
A |
2: 36,342,600 (GRCm39) |
M1K |
probably null |
Het |
| Or4p21 |
G |
A |
2: 88,277,054 (GRCm39) |
T76I |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,533,578 (GRCm39) |
Q64L |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,576,742 (GRCm39) |
I338F |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,046 (GRCm39) |
M2755T |
possibly damaging |
Het |
| Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,209,872 (GRCm39) |
S51P |
probably benign |
Het |
| Scn10a |
G |
A |
9: 119,438,070 (GRCm39) |
A1933V |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,862,370 (GRCm39) |
Y315F |
probably damaging |
Het |
| Slc29a4 |
A |
C |
5: 142,698,650 (GRCm39) |
I104L |
possibly damaging |
Het |
| Spag16 |
G |
A |
1: 69,897,681 (GRCm39) |
V144I |
possibly damaging |
Het |
| Spata22 |
A |
G |
11: 73,236,660 (GRCm39) |
K322R |
probably benign |
Het |
| Sult2a8 |
T |
A |
7: 14,161,778 (GRCm39) |
I23L |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,986,300 (GRCm39) |
V344D |
probably damaging |
Het |
| Tnn |
G |
C |
1: 159,924,798 (GRCm39) |
Y1185* |
probably null |
Het |
| Trpc4 |
A |
G |
3: 54,209,614 (GRCm39) |
I660V |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
| Usp4 |
A |
G |
9: 108,250,885 (GRCm39) |
E531G |
probably benign |
Het |
| Vmn2r93 |
C |
T |
17: 18,525,428 (GRCm39) |
S362L |
probably damaging |
Het |
| Zfhx3 |
G |
T |
8: 109,526,885 (GRCm39) |
E927D |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,786,469 (GRCm39) |
M1K |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
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 |
|
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 |
|
|
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'- TTTCACGGAACAGCTCCAGG -3'
(R):5'- TGGTTCTTTGACACCTGCCG -3'
Sequencing Primer
(F):5'- TGAGCTGCCCGATAGAGAC -3'
(R):5'- GCCGATTTCTCTCTTGGGATC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation