Incidental Mutation 'IGL02335:Csn1s1'
| ID |
289671 |
| 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 # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87666208-87682578 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87680845 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 275
(D275V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094641]
[ENSMUST00000197157]
[ENSMUST00000197631]
|
| AlphaFold |
P19228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094641
AA Change: D275V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: D275V
| 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: ENSMUST00000198432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199533
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830411N06Rik |
A |
T |
7: 140,296,540 (GRCm38) |
N526Y |
probably damaging |
Het |
| A4gnt |
C |
T |
9: 99,620,213 (GRCm38) |
T142I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,214,258 (GRCm38) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,799,750 (GRCm38) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,135,638 (GRCm38) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,666,929 (GRCm38) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,876,134 (GRCm38) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,146,847 (GRCm38) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm38) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,463,769 (GRCm38) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,784,101 (GRCm38) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,899,077 (GRCm38) |
G42W |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,427,834 (GRCm38) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,275,821 (GRCm38) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,342,740 (GRCm38) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,334,644 (GRCm38) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,223,309 (GRCm38) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,128,390 (GRCm38) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,369,158 (GRCm38) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,447,595 (GRCm38) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,881,763 (GRCm38) |
I572M |
probably benign |
Het |
| Gm5538 |
G |
A |
3: 59,743,605 (GRCm38) |
M49I |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,256,937 (GRCm38) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,715,854 (GRCm38) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,166,216 (GRCm38) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,620,081 (GRCm38) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,977,147 (GRCm38) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,707,782 (GRCm38) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,323,636 (GRCm38) |
|
probably null |
Het |
| Olfr1442 |
T |
C |
19: 12,674,238 (GRCm38) |
I11T |
probably damaging |
Het |
| Olfr1494 |
A |
G |
19: 13,749,934 (GRCm38) |
D276G |
probably benign |
Het |
| Olfr96 |
A |
G |
17: 37,225,326 (GRCm38) |
N67S |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,784,183 (GRCm38) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,702,512 (GRCm38) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 18,056,117 (GRCm38) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,122,691 (GRCm38) |
E15G |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,277,661 (GRCm38) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,526,215 (GRCm38) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,050,093 (GRCm38) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,023,080 (GRCm38) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,328,523 (GRCm38) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,638,092 (GRCm38) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,474,543 (GRCm38) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 54,897,437 (GRCm38) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 43,187,267 (GRCm38) |
L34Q |
probably damaging |
Het |
|
| Other mutations in Csn1s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Csn1s1
|
APN |
5 |
87,667,259 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01984:Csn1s1
|
APN |
5 |
87,676,510 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02183:Csn1s1
|
APN |
5 |
87,677,618 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02496:Csn1s1
|
APN |
5 |
87,677,594 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02502:Csn1s1
|
APN |
5 |
87,680,925 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02622:Csn1s1
|
APN |
5 |
87,677,642 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03403:Csn1s1
|
APN |
5 |
87,667,293 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0004:Csn1s1
|
UTSW |
5 |
87,671,531 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0472:Csn1s1
|
UTSW |
5 |
87,677,627 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1076:Csn1s1
|
UTSW |
5 |
87,676,383 (GRCm38) |
splice site |
probably null |
|
|
R1364:Csn1s1
|
UTSW |
5 |
87,677,584 (GRCm38) |
unclassified |
probably benign |
|
|
R1761:Csn1s1
|
UTSW |
5 |
87,679,035 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2056:Csn1s1
|
UTSW |
5 |
87,671,528 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R2937:Csn1s1
|
UTSW |
5 |
87,677,136 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R2938:Csn1s1
|
UTSW |
5 |
87,677,136 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R3793:Csn1s1
|
UTSW |
5 |
87,680,843 (GRCm38) |
nonsense |
probably null |
|
|
R4274:Csn1s1
|
UTSW |
5 |
87,680,961 (GRCm38) |
makesense |
probably null |
|
|
R4568:Csn1s1
|
UTSW |
5 |
87,680,904 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4959:Csn1s1
|
UTSW |
5 |
87,673,261 (GRCm38) |
missense |
probably benign |
0.27 |
|
R4973:Csn1s1
|
UTSW |
5 |
87,673,261 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5133:Csn1s1
|
UTSW |
5 |
87,680,878 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5611:Csn1s1
|
UTSW |
5 |
87,677,644 (GRCm38) |
splice site |
probably null |
|
|
R6008:Csn1s1
|
UTSW |
5 |
87,678,085 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6663:Csn1s1
|
UTSW |
5 |
87,675,740 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6940:Csn1s1
|
UTSW |
5 |
87,675,023 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7164:Csn1s1
|
UTSW |
5 |
87,674,228 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7990:Csn1s1
|
UTSW |
5 |
87,680,053 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7998:Csn1s1
|
UTSW |
5 |
87,674,228 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8729:Csn1s1
|
UTSW |
5 |
87,677,139 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8950:Csn1s1
|
UTSW |
5 |
87,676,623 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation