Incidental Mutation 'IGL00588:Csn1s1'
| ID |
5598 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csn1s1
|
| Ensembl Gene |
ENSMUSG00000070702 |
| Gene Name |
casein alpha s1 |
| Synonyms |
Csna |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87814067-87830437 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87815118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 5
(I5V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094641]
[ENSMUST00000197157]
[ENSMUST00000197631]
[ENSMUST00000199506]
|
| AlphaFold |
P19228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094641
AA Change: I5V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: I5V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
148 |
7.63e-5 |
PROSPERO |
|
internal_repeat_1
|
141 |
172 |
7.63e-5 |
PROSPERO |
|
low complexity region
|
173 |
198 |
N/A |
INTRINSIC |
|
Pfam:Casein
|
215 |
304 |
5.7e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197157
|
| SMART Domains |
Protein: ENSMUSP00000142839
Gene: ENSMUSG00000070702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197631
AA Change: I5V
|
| SMART Domains |
Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: I5V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
148 |
3.17e-5 |
PROSPERO |
|
internal_repeat_1
|
141 |
172 |
3.17e-5 |
PROSPERO |
|
low complexity region
|
173 |
198 |
N/A |
INTRINSIC |
|
Pfam:Casein
|
215 |
282 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199506
|
| SMART Domains |
Protein: ENSMUSP00000143694
Gene: ENSMUSG00000070702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
47 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display reduced milk prodution and abnormal milk composition with reduced protein, calcium and phosphate concentrations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc5 |
G |
A |
17: 56,601,262 (GRCm39) |
P288S |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,916,863 (GRCm39) |
I487M |
probably damaging |
Het |
| Cd1d1 |
T |
C |
3: 86,905,480 (GRCm39) |
D171G |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,858,917 (GRCm39) |
N530S |
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,622,857 (GRCm39) |
Y278* |
probably null |
Het |
| Fam186a |
T |
C |
15: 99,825,572 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
G |
A |
3: 85,579,925 (GRCm39) |
T760M |
probably benign |
Het |
| Gimap6 |
T |
C |
6: 48,679,355 (GRCm39) |
K227R |
possibly damaging |
Het |
| Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
| Gm12888 |
A |
T |
4: 121,176,642 (GRCm39) |
M53K |
possibly damaging |
Het |
| Klhl9 |
C |
T |
4: 88,639,056 (GRCm39) |
S395N |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,663,938 (GRCm39) |
M280T |
probably damaging |
Het |
| Ly96 |
A |
G |
1: 16,776,452 (GRCm39) |
|
probably null |
Het |
| Mamdc2 |
T |
A |
19: 23,330,680 (GRCm39) |
T376S |
possibly damaging |
Het |
| Man2b1 |
C |
A |
8: 85,811,267 (GRCm39) |
|
probably null |
Het |
| Ndufs8 |
G |
A |
19: 3,961,740 (GRCm39) |
R3C |
probably benign |
Het |
| Prox1 |
T |
C |
1: 189,855,607 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,089,536 (GRCm39) |
N97S |
probably damaging |
Het |
| Rfx3 |
G |
A |
19: 27,803,476 (GRCm39) |
Q270* |
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,346 (GRCm39) |
I317V |
probably benign |
Het |
| Smim15 |
T |
C |
13: 108,184,063 (GRCm39) |
L23P |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 136,001,003 (GRCm39) |
N338Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,658,071 (GRCm39) |
|
probably benign |
Het |
| Zfp61 |
T |
A |
7: 23,990,520 (GRCm39) |
I544F |
probably benign |
Het |
| Zfp954 |
C |
T |
7: 7,118,366 (GRCm39) |
A393T |
probably benign |
Het |
|
| Other mutations in Csn1s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01984:Csn1s1
|
APN |
5 |
87,824,369 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02183:Csn1s1
|
APN |
5 |
87,825,477 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02335:Csn1s1
|
APN |
5 |
87,828,704 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02496:Csn1s1
|
APN |
5 |
87,825,453 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02502:Csn1s1
|
APN |
5 |
87,828,784 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02622:Csn1s1
|
APN |
5 |
87,825,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03403:Csn1s1
|
APN |
5 |
87,815,152 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0004:Csn1s1
|
UTSW |
5 |
87,819,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0472:Csn1s1
|
UTSW |
5 |
87,825,486 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1076:Csn1s1
|
UTSW |
5 |
87,824,242 (GRCm39) |
splice site |
probably null |
|
|
R1364:Csn1s1
|
UTSW |
5 |
87,825,443 (GRCm39) |
unclassified |
probably benign |
|
|
R1761:Csn1s1
|
UTSW |
5 |
87,826,894 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2056:Csn1s1
|
UTSW |
5 |
87,819,387 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2937:Csn1s1
|
UTSW |
5 |
87,824,995 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2938:Csn1s1
|
UTSW |
5 |
87,824,995 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3793:Csn1s1
|
UTSW |
5 |
87,828,702 (GRCm39) |
nonsense |
probably null |
|
|
R4274:Csn1s1
|
UTSW |
5 |
87,828,820 (GRCm39) |
makesense |
probably null |
|
|
R4568:Csn1s1
|
UTSW |
5 |
87,828,763 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4959:Csn1s1
|
UTSW |
5 |
87,821,120 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4973:Csn1s1
|
UTSW |
5 |
87,821,120 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5133:Csn1s1
|
UTSW |
5 |
87,828,737 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5611:Csn1s1
|
UTSW |
5 |
87,825,503 (GRCm39) |
splice site |
probably null |
|
|
R6008:Csn1s1
|
UTSW |
5 |
87,825,944 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6663:Csn1s1
|
UTSW |
5 |
87,823,599 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6940:Csn1s1
|
UTSW |
5 |
87,822,882 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7164:Csn1s1
|
UTSW |
5 |
87,822,087 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7990:Csn1s1
|
UTSW |
5 |
87,827,912 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7998:Csn1s1
|
UTSW |
5 |
87,822,087 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8729:Csn1s1
|
UTSW |
5 |
87,824,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8950:Csn1s1
|
UTSW |
5 |
87,824,482 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation