Incidental Mutation 'IGL02689:Csn1s2b'
| ID |
303655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csn1s2b
|
| Ensembl Gene |
ENSMUSG00000061388 |
| Gene Name |
casein alpha s2-like B |
| Synonyms |
Csne, Csnd |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02689
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87955980-87972280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87957780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 5
(I5V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072539]
[ENSMUST00000101057]
[ENSMUST00000113279]
[ENSMUST00000197301]
|
| AlphaFold |
P02664 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072539
AA Change: I5V
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072352
Gene: ENSMUSG00000061388
AA Change: I5V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Casein
|
58 |
136 |
4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101057
AA Change: I5V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113279
AA Change: I5V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108904
Gene: ENSMUSG00000061388
AA Change: I5V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Casein
|
55 |
133 |
5.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197301
AA Change: I5V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142449
Gene: ENSMUSG00000061388
AA Change: I5V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Casein
|
45 |
127 |
7.2e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200098
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a member of the alpha-s2-like casein gene family, and this gene product is a calcium-sensitive casein. Members of this gene family are organized as a gene cluster that is conserved in its order, but with greater conservation amongst orthologs than paralogs. The protein encoded by this gene interacts with other casein proteins to form a micelle structure, and is a major source of protein in milk. This structure is important for the transport of calcium, phosphate, and protein. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Aug 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
G |
T |
4: 86,835,692 (GRCm39) |
A235S |
probably benign |
Het |
| Add2 |
A |
G |
6: 86,084,388 (GRCm39) |
I479V |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,168 (GRCm39) |
M28K |
probably benign |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,993 (GRCm39) |
S87G |
probably benign |
Het |
| Atraid |
T |
C |
5: 31,209,826 (GRCm39) |
L46P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,916,772 (GRCm39) |
Y509* |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,739,128 (GRCm39) |
L1257Q |
probably damaging |
Het |
| Dhps |
T |
C |
8: 85,800,379 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,962 (GRCm39) |
S717P |
probably damaging |
Het |
| Dppa5a |
G |
T |
9: 78,275,113 (GRCm39) |
S63Y |
probably damaging |
Het |
| Eif3l |
A |
T |
15: 78,970,719 (GRCm39) |
D331V |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,412,253 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,253,662 (GRCm39) |
Q18K |
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,251,918 (GRCm39) |
K56R |
probably damaging |
Het |
| H2-M3 |
T |
A |
17: 37,581,432 (GRCm39) |
Y31* |
probably null |
Het |
| Herc2 |
T |
C |
7: 55,815,031 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,782,687 (GRCm39) |
A675S |
possibly damaging |
Het |
| Lipo5 |
G |
A |
19: 33,445,186 (GRCm39) |
H128Y |
unknown |
Het |
| Or2bd2 |
T |
C |
7: 6,443,574 (GRCm39) |
L225P |
possibly damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,171 (GRCm39) |
I89V |
probably benign |
Het |
| Pdk4 |
C |
T |
6: 5,487,408 (GRCm39) |
V281I |
probably benign |
Het |
| Pkn3 |
G |
A |
2: 29,970,858 (GRCm39) |
G202D |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,462,149 (GRCm39) |
N260S |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,487,594 (GRCm39) |
F1623L |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,907,934 (GRCm39) |
F203S |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,596 (GRCm39) |
L210S |
probably damaging |
Het |
| Taf5 |
T |
C |
19: 47,065,704 (GRCm39) |
|
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,475,270 (GRCm39) |
F226S |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,289,839 (GRCm39) |
|
probably benign |
Het |
| Tmx3 |
A |
G |
18: 90,555,240 (GRCm39) |
N319S |
possibly damaging |
Het |
| Trmt1 |
G |
T |
8: 85,426,385 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Csn1s2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01559:Csn1s2b
|
APN |
5 |
87,968,810 (GRCm39) |
nonsense |
probably null |
|
|
IGL01704:Csn1s2b
|
APN |
5 |
87,960,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01785:Csn1s2b
|
APN |
5 |
87,957,772 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1596:Csn1s2b
|
UTSW |
5 |
87,966,917 (GRCm39) |
splice site |
probably benign |
|
|
R1649:Csn1s2b
|
UTSW |
5 |
87,966,943 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1682:Csn1s2b
|
UTSW |
5 |
87,970,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1747:Csn1s2b
|
UTSW |
5 |
87,964,529 (GRCm39) |
splice site |
probably benign |
|
|
R3123:Csn1s2b
|
UTSW |
5 |
87,966,917 (GRCm39) |
splice site |
probably benign |
|
|
R4667:Csn1s2b
|
UTSW |
5 |
87,970,170 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4781:Csn1s2b
|
UTSW |
5 |
87,966,952 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4965:Csn1s2b
|
UTSW |
5 |
87,961,820 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6013:Csn1s2b
|
UTSW |
5 |
87,972,098 (GRCm39) |
splice site |
probably null |
|
|
R6730:Csn1s2b
|
UTSW |
5 |
87,970,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8028:Csn1s2b
|
UTSW |
5 |
87,966,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9651:Csn1s2b
|
UTSW |
5 |
87,968,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation