Incidental Mutation 'IGL00471:Cst13'
| ID |
7004 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cst13
|
| Ensembl Gene |
ENSMUSG00000036924 |
| Gene Name |
cystatin 13 |
| Synonyms |
cystatin T, Cymg1, 1700006C19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL00471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
148662001-148672330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 148672224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 133
(M133K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028935]
[ENSMUST00000046589]
|
| AlphaFold |
Q80ZN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028935
|
| SMART Domains |
Protein: ENSMUSP00000028935
Gene: ENSMUSG00000027445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
25 |
N/A |
INTRINSIC |
|
CY
|
27 |
137 |
2.38e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046589
AA Change: M133K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036005
Gene: ENSMUSG00000036924
AA Change: M133K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CY
|
29 |
139 |
2.2e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
| Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
| Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
| Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
| Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
| Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
| Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
| Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
| Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Cst13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0800:Cst13
|
UTSW |
2 |
148,672,247 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1037:Cst13
|
UTSW |
2 |
148,672,251 (GRCm39) |
unclassified |
probably benign |
|
|
R1401:Cst13
|
UTSW |
2 |
148,665,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2206:Cst13
|
UTSW |
2 |
148,665,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2207:Cst13
|
UTSW |
2 |
148,665,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4350:Cst13
|
UTSW |
2 |
148,672,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4667:Cst13
|
UTSW |
2 |
148,665,001 (GRCm39) |
start gained |
probably benign |
|
|
R5193:Cst13
|
UTSW |
2 |
148,670,143 (GRCm39) |
nonsense |
probably null |
|
|
R5854:Cst13
|
UTSW |
2 |
148,670,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6391:Cst13
|
UTSW |
2 |
148,670,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Cst13
|
UTSW |
2 |
148,665,129 (GRCm39) |
nonsense |
probably null |
|
|
R7532:Cst13
|
UTSW |
2 |
148,665,127 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8407:Cst13
|
UTSW |
2 |
148,665,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9377:Cst13
|
UTSW |
2 |
148,670,165 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2012-04-20 |
Incidental Mutation