Incidental Mutation 'IGL01984:Csn1s1'
| ID |
181844 |
| 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 # |
IGL01984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87814067-87830437 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 87824369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094641]
[ENSMUST00000197157]
[ENSMUST00000197631]
[ENSMUST00000199506]
|
| AlphaFold |
P19228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094641
|
| SMART Domains |
Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
| 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 |
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 |
probably benign
Transcript: ENSMUST00000197631
|
| SMART Domains |
Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
| 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: ENSMUST00000197788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198432
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
T |
3: 89,970,537 (GRCm39) |
L24F |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,935,266 (GRCm39) |
D442G |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,487 (GRCm39) |
T634A |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,982,630 (GRCm39) |
|
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,270 (GRCm39) |
L202P |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,382,614 (GRCm39) |
S325T |
probably damaging |
Het |
| Clec2d |
A |
T |
6: 129,161,192 (GRCm39) |
E96D |
possibly damaging |
Het |
| Dcun1d5 |
T |
A |
9: 7,205,307 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,741,174 (GRCm39) |
|
probably null |
Het |
| Dpcd |
C |
T |
19: 45,565,469 (GRCm39) |
H148Y |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,629,134 (GRCm39) |
D937E |
probably benign |
Het |
| Erg |
T |
G |
16: 95,210,786 (GRCm39) |
D15A |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,547 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,103,926 (GRCm39) |
R1083Q |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,299,533 (GRCm39) |
S1012P |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,159,057 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,951,525 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
T |
6: 93,685,155 (GRCm39) |
V740D |
probably damaging |
Het |
| Nme8 |
C |
A |
13: 19,873,150 (GRCm39) |
V165L |
probably damaging |
Het |
| Odf2l |
G |
T |
3: 144,845,590 (GRCm39) |
E5* |
probably null |
Het |
| Or14j4 |
T |
C |
17: 37,934,552 (GRCm39) |
|
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,451,927 (GRCm39) |
L164S |
probably benign |
Het |
| Or56a5 |
A |
T |
7: 104,792,923 (GRCm39) |
D192E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,183 (GRCm39) |
V1001A |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,459,922 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,526,643 (GRCm39) |
A1305T |
probably benign |
Het |
| Rnps1 |
T |
C |
17: 24,643,371 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
T |
C |
18: 77,336,157 (GRCm39) |
F197L |
probably benign |
Het |
| Sult3a1 |
G |
T |
10: 33,755,205 (GRCm39) |
G257* |
probably null |
Het |
| Svep1 |
A |
C |
4: 58,068,877 (GRCm39) |
Y2970D |
possibly damaging |
Het |
| Tns3 |
G |
T |
11: 8,498,992 (GRCm39) |
Y30* |
probably null |
Het |
| Ubr1 |
G |
T |
2: 120,751,867 (GRCm39) |
P791T |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,392 (GRCm39) |
V1039A |
probably benign |
Het |
|
| Other mutations in Csn1s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Csn1s1
|
APN |
5 |
87,815,118 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2014-05-07 |
Incidental Mutation