Incidental Mutation 'IGL01829:Csn1s2a'
ID |
154737 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csn1s2a
|
Ensembl Gene |
ENSMUSG00000061937 |
Gene Name |
casein alpha s2-like A |
Synonyms |
Csn1s2a, Csng |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL01829
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87922426-87936656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87934569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 173
(T173S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076379]
[ENSMUST00000196585]
[ENSMUST00000196749]
[ENSMUST00000200322]
|
AlphaFold |
Q02862 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076379
AA Change: T181S
|
SMART Domains |
Protein: ENSMUSP00000075716 Gene: ENSMUSG00000061937 AA Change: T181S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
86 |
N/A |
INTRINSIC |
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000196585
AA Change: T166S
|
SMART Domains |
Protein: ENSMUSP00000143515 Gene: ENSMUSG00000061937 AA Change: T166S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
low complexity region
|
51 |
80 |
N/A |
INTRINSIC |
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000196749
AA Change: T180S
|
SMART Domains |
Protein: ENSMUSP00000143715 Gene: ENSMUSG00000061937 AA Change: T180S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
coiled coil region
|
57 |
85 |
N/A |
INTRINSIC |
low complexity region
|
101 |
114 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200200
|
Predicted Effect |
unknown
Transcript: ENSMUST00000200322
AA Change: T173S
|
SMART Domains |
Protein: ENSMUSP00000142901 Gene: ENSMUSG00000061937 AA Change: T173S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
low complexity region
|
51 |
57 |
N/A |
INTRINSIC |
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
low complexity region
|
94 |
107 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200350
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bod1l |
A |
G |
5: 41,977,811 (GRCm39) |
S1168P |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,404,604 (GRCm39) |
D2646V |
probably damaging |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnah7a |
G |
T |
1: 53,657,227 (GRCm39) |
R850S |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,596,668 (GRCm39) |
D396G |
probably damaging |
Het |
E2f7 |
A |
G |
10: 110,614,955 (GRCm39) |
Y553C |
probably benign |
Het |
Elf2 |
A |
G |
3: 51,215,521 (GRCm39) |
M63T |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
Kcnk13 |
T |
A |
12: 100,027,257 (GRCm39) |
|
probably benign |
Het |
Nr1h5 |
T |
A |
3: 102,856,395 (GRCm39) |
I295L |
probably benign |
Het |
Or9s23 |
A |
T |
1: 92,501,051 (GRCm39) |
I53F |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,449,383 (GRCm39) |
H986R |
probably damaging |
Het |
Rufy1 |
T |
A |
11: 50,307,071 (GRCm39) |
R300* |
probably null |
Het |
Sfxn4 |
C |
A |
19: 60,847,172 (GRCm39) |
S37I |
probably damaging |
Het |
Slc12a9 |
A |
T |
5: 137,325,627 (GRCm39) |
|
probably benign |
Het |
Slc37a1 |
T |
C |
17: 31,541,180 (GRCm39) |
I224T |
possibly damaging |
Het |
Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,536,927 (GRCm39) |
K4233E |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,377 (GRCm39) |
M1141K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,612,011 (GRCm39) |
D17297G |
probably damaging |
Het |
Vmn1r12 |
T |
C |
6: 57,136,649 (GRCm39) |
Y205H |
probably damaging |
Het |
Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
Vmn2r129 |
T |
C |
4: 156,685,614 (GRCm39) |
|
noncoding transcript |
Het |
Vps13a |
T |
C |
19: 16,596,807 (GRCm39) |
T3104A |
probably benign |
Het |
|
Other mutations in Csn1s2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00985:Csn1s2a
|
APN |
5 |
87,932,439 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0137:Csn1s2a
|
UTSW |
5 |
87,926,826 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1503:Csn1s2a
|
UTSW |
5 |
87,923,658 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1799:Csn1s2a
|
UTSW |
5 |
87,926,052 (GRCm39) |
missense |
probably damaging |
0.97 |
R1870:Csn1s2a
|
UTSW |
5 |
87,926,058 (GRCm39) |
missense |
probably benign |
0.27 |
R2400:Csn1s2a
|
UTSW |
5 |
87,928,014 (GRCm39) |
critical splice donor site |
probably null |
|
R2897:Csn1s2a
|
UTSW |
5 |
87,929,680 (GRCm39) |
missense |
unknown |
|
R4034:Csn1s2a
|
UTSW |
5 |
87,929,746 (GRCm39) |
missense |
probably benign |
0.27 |
R4360:Csn1s2a
|
UTSW |
5 |
87,929,700 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4377:Csn1s2a
|
UTSW |
5 |
87,923,680 (GRCm39) |
missense |
probably benign |
|
R4834:Csn1s2a
|
UTSW |
5 |
87,929,637 (GRCm39) |
missense |
probably benign |
0.27 |
R4965:Csn1s2a
|
UTSW |
5 |
87,929,697 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6807:Csn1s2a
|
UTSW |
5 |
87,929,731 (GRCm39) |
missense |
probably benign |
|
R7115:Csn1s2a
|
UTSW |
5 |
87,929,664 (GRCm39) |
missense |
probably benign |
0.00 |
R7353:Csn1s2a
|
UTSW |
5 |
87,933,161 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7420:Csn1s2a
|
UTSW |
5 |
87,927,865 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8932:Csn1s2a
|
UTSW |
5 |
87,933,164 (GRCm39) |
missense |
probably benign |
0.05 |
R9074:Csn1s2a
|
UTSW |
5 |
87,934,458 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-02-04 |