Incidental Mutation 'IGL01704:Csn1s2b'
ID |
104542 |
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: 0.058)
|
Stock # |
IGL01704
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87955980-87972280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 87960970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 25
(S25R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072539]
[ENSMUST00000101057]
[ENSMUST00000113279]
[ENSMUST00000197301]
|
AlphaFold |
P02664 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072539
AA Change: S25R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000072352 Gene: ENSMUSG00000061388 AA Change: S25R
Domain | Start | End | E-Value | Type |
Pfam:Casein
|
58 |
136 |
4e-20 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000101057
AA Change: S25R
|
Predicted Effect |
unknown
Transcript: ENSMUST00000113279
AA Change: S25R
|
SMART Domains |
Protein: ENSMUSP00000108904 Gene: ENSMUSG00000061388 AA Change: S25R
Domain | Start | End | E-Value | Type |
Pfam:Casein
|
55 |
133 |
5.1e-17 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197301
AA Change: S25R
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142449 Gene: ENSMUSG00000061388 AA Change: S25R
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 |
Brsk1 |
A |
G |
7: 4,707,260 (GRCm39) |
E271G |
probably benign |
Het |
Card9 |
A |
G |
2: 26,246,874 (GRCm39) |
F325L |
probably benign |
Het |
Cct8l1 |
T |
A |
5: 25,722,097 (GRCm39) |
S271T |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,800,979 (GRCm39) |
Y125H |
probably benign |
Het |
Dnmt1 |
C |
T |
9: 20,821,476 (GRCm39) |
V1227I |
probably damaging |
Het |
Fpr1 |
G |
A |
17: 18,097,234 (GRCm39) |
R252W |
possibly damaging |
Het |
Gm15155 |
T |
A |
X: 155,086,252 (GRCm39) |
D69E |
unknown |
Het |
Hltf |
T |
C |
3: 20,137,910 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,056,692 (GRCm39) |
I130V |
possibly damaging |
Het |
Klra9 |
G |
T |
6: 130,166,744 (GRCm39) |
S40* |
probably null |
Het |
Ldoc1 |
C |
A |
X: 60,753,537 (GRCm39) |
Y74* |
probably null |
Het |
Lias |
G |
T |
5: 65,562,673 (GRCm39) |
V318F |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,926,932 (GRCm39) |
V48A |
possibly damaging |
Het |
Myo9b |
C |
T |
8: 71,812,286 (GRCm39) |
P2019L |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,059,588 (GRCm39) |
|
probably benign |
Het |
Or5b97 |
T |
C |
19: 12,879,103 (GRCm39) |
I14V |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,839,783 (GRCm39) |
D497G |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,717,504 (GRCm39) |
D1535G |
probably damaging |
Het |
Pcx |
G |
T |
19: 4,671,088 (GRCm39) |
K1103N |
probably damaging |
Het |
Pdgfd |
G |
A |
9: 6,337,327 (GRCm39) |
V220M |
probably damaging |
Het |
Pola2 |
A |
G |
19: 5,992,047 (GRCm39) |
S542P |
probably damaging |
Het |
Ppip5k1 |
G |
A |
2: 121,142,555 (GRCm39) |
T1278M |
possibly damaging |
Het |
Pramel11 |
C |
T |
4: 143,622,201 (GRCm39) |
D385N |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,262,795 (GRCm39) |
V11A |
possibly damaging |
Het |
Rhox2f |
T |
A |
X: 36,753,634 (GRCm39) |
V124E |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,340,702 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,041,913 (GRCm39) |
|
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,704 (GRCm39) |
V125A |
probably benign |
Het |
Tg |
A |
T |
15: 66,543,200 (GRCm39) |
Q38L |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,630,192 (GRCm39) |
S633T |
possibly damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,168,073 (GRCm39) |
F776L |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,895,676 (GRCm39) |
V724G |
possibly damaging |
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 |
|
IGL01785:Csn1s2b
|
APN |
5 |
87,957,772 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02689:Csn1s2b
|
APN |
5 |
87,957,780 (GRCm39) |
missense |
probably benign |
0.41 |
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 |
2014-01-21 |