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 |
87814067-87830437 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87828704 bp (GRCm39)
|
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 |
A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
Cd22 |
A |
G |
7: 30,575,559 (GRCm39) |
I161T |
probably damaging |
Het |
Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
Fbxw20 |
T |
C |
9: 109,052,377 (GRCm39) |
K249E |
possibly damaging |
Het |
Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
Gpatch2l |
T |
A |
12: 86,303,711 (GRCm39) |
|
probably benign |
Het |
Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
Lingo1 |
A |
G |
9: 56,527,365 (GRCm39) |
L408P |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,931,865 (GRCm39) |
|
probably null |
Het |
Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
Scart2 |
A |
T |
7: 139,876,453 (GRCm39) |
N526Y |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
Het |
Zfp936 |
T |
A |
7: 42,836,691 (GRCm39) |
L34Q |
probably damaging |
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 |
IGL01984:Csn1s1
|
APN |
5 |
87,824,369 (GRCm39) |
unclassified |
probably benign |
|
IGL02183:Csn1s1
|
APN |
5 |
87,825,477 (GRCm39) |
missense |
possibly damaging |
0.52 |
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 |
2015-04-16 |