Incidental Mutation 'IGL01666:Csn3'
ID |
103317 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csn3
|
Ensembl Gene |
ENSMUSG00000001622 |
Gene Name |
casein kappa |
Synonyms |
Csnk, CSN10 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01666
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
88073438-88080409 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88078016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001667]
[ENSMUST00000113267]
[ENSMUST00000113271]
|
AlphaFold |
P06796 |
Predicted Effect |
unknown
Transcript: ENSMUST00000001667
AA Change: V174A
|
SMART Domains |
Protein: ENSMUSP00000001667 Gene: ENSMUSG00000001622 AA Change: V174A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Casein_kappa
|
22 |
180 |
2.5e-64 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000113267
AA Change: V174A
|
SMART Domains |
Protein: ENSMUSP00000108892 Gene: ENSMUSG00000001622 AA Change: V174A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Casein_kappa
|
22 |
181 |
2.7e-70 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000113271
AA Change: V174A
|
SMART Domains |
Protein: ENSMUSP00000108896 Gene: ENSMUSG00000001622 AA Change: V174A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Casein_kappa
|
22 |
181 |
2.7e-70 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140690
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144929
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190123
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display lactation failure and abnormal milk composition, but are fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
A |
1: 25,499,832 (GRCm39) |
A664S |
probably damaging |
Het |
Ankrd61 |
T |
A |
5: 143,827,954 (GRCm39) |
L297F |
probably damaging |
Het |
Chrnd |
A |
T |
1: 87,126,458 (GRCm39) |
S513C |
possibly damaging |
Het |
Col24a1 |
G |
A |
3: 145,050,447 (GRCm39) |
V645M |
possibly damaging |
Het |
D630039A03Rik |
C |
T |
4: 57,910,570 (GRCm39) |
V81I |
possibly damaging |
Het |
Deptor |
G |
A |
15: 55,012,775 (GRCm39) |
R54Q |
probably damaging |
Het |
Ell |
A |
G |
8: 71,038,463 (GRCm39) |
H400R |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,852,717 (GRCm39) |
V1335M |
probably damaging |
Het |
Itga2 |
A |
G |
13: 114,973,627 (GRCm39) |
|
probably null |
Het |
Itpr3 |
A |
G |
17: 27,336,152 (GRCm39) |
I2293V |
probably benign |
Het |
Matcap2 |
A |
G |
9: 22,342,994 (GRCm39) |
D163G |
probably benign |
Het |
Mmut |
T |
C |
17: 41,269,702 (GRCm39) |
L687P |
probably damaging |
Het |
Mrps27 |
A |
G |
13: 99,546,324 (GRCm39) |
E241G |
probably damaging |
Het |
Myh9 |
C |
T |
15: 77,646,131 (GRCm39) |
A1951T |
probably benign |
Het |
Oca2 |
G |
A |
7: 55,964,559 (GRCm39) |
|
probably null |
Het |
Or2n1c |
C |
T |
17: 38,519,780 (GRCm39) |
L215F |
probably benign |
Het |
Or6d15 |
T |
A |
6: 116,559,296 (GRCm39) |
I204F |
possibly damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,918,274 (GRCm39) |
F264L |
probably benign |
Het |
Ptpn23 |
T |
C |
9: 110,215,613 (GRCm39) |
T1384A |
possibly damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,174,718 (GRCm39) |
D170E |
probably damaging |
Het |
Rnf20 |
C |
T |
4: 49,654,486 (GRCm39) |
Q848* |
probably null |
Het |
|
Other mutations in Csn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02153:Csn3
|
APN |
5 |
88,077,956 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02936:Csn3
|
APN |
5 |
88,077,992 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0617:Csn3
|
UTSW |
5 |
88,077,730 (GRCm39) |
missense |
probably benign |
0.18 |
R1502:Csn3
|
UTSW |
5 |
88,077,983 (GRCm39) |
missense |
probably damaging |
0.98 |
R2329:Csn3
|
UTSW |
5 |
88,077,862 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3710:Csn3
|
UTSW |
5 |
88,077,882 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4514:Csn3
|
UTSW |
5 |
88,077,997 (GRCm39) |
missense |
unknown |
|
R5079:Csn3
|
UTSW |
5 |
88,077,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5233:Csn3
|
UTSW |
5 |
88,077,694 (GRCm39) |
missense |
probably benign |
0.13 |
R5573:Csn3
|
UTSW |
5 |
88,077,910 (GRCm39) |
missense |
probably benign |
|
R5913:Csn3
|
UTSW |
5 |
88,075,470 (GRCm39) |
missense |
probably damaging |
0.99 |
R7175:Csn3
|
UTSW |
5 |
88,077,586 (GRCm39) |
missense |
probably damaging |
0.98 |
R7577:Csn3
|
UTSW |
5 |
88,077,821 (GRCm39) |
missense |
not run |
|
R8953:Csn3
|
UTSW |
5 |
88,077,809 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9422:Csn3
|
UTSW |
5 |
88,077,872 (GRCm39) |
missense |
probably benign |
0.11 |
|
Posted On |
2014-01-21 |