Incidental Mutation 'R4568:Csn1s1'
| ID |
341937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csn1s1
|
| Ensembl Gene |
ENSMUSG00000070702 |
| Gene Name |
casein alpha s1 |
| Synonyms |
Csna |
| MMRRC Submission |
041792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87814067-87830437 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87828763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 276
(V276I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094641]
[ENSMUST00000197157]
[ENSMUST00000197631]
|
| AlphaFold |
P19228 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094641
AA Change: V295I
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: V295I
| 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 |
possibly damaging
Transcript: ENSMUST00000197631
AA Change: V276I
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: V276I
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,162,740 (GRCm39) |
W5R |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,645 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,555,031 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,299,175 (GRCm39) |
I83T |
probably damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,688,588 (GRCm39) |
T344M |
possibly damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,098,258 (GRCm39) |
P378S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gpr139 |
C |
T |
7: 118,744,028 (GRCm39) |
V186M |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,386,657 (GRCm39) |
T422A |
probably damaging |
Het |
| Lgals8 |
T |
G |
13: 12,468,254 (GRCm39) |
Y125S |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,079 (GRCm39) |
G107D |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,702,448 (GRCm39) |
Y599* |
probably null |
Het |
| Omt2b |
T |
A |
9: 78,235,529 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,035 (GRCm39) |
E180G |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,525,113 (GRCm39) |
M291L |
probably benign |
Het |
| Pga5 |
A |
G |
19: 10,649,216 (GRCm39) |
Y235H |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,598,081 (GRCm39) |
K869* |
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,972,355 (GRCm39) |
M268V |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,717,977 (GRCm39) |
D624G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,129,873 (GRCm39) |
I1817F |
probably damaging |
Het |
| Psmg3 |
A |
G |
5: 139,812,004 (GRCm39) |
I32T |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,607,789 (GRCm39) |
E757G |
probably damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
T |
A |
16: 94,136,688 (GRCm39) |
D116E |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,118 (GRCm39) |
V263A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,303 (GRCm39) |
H1008R |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,730,722 (GRCm39) |
V379A |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,198,658 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,806 (GRCm39) |
E1121G |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,268,710 (GRCm39) |
|
probably benign |
Het |
| Trpv6 |
G |
T |
6: 41,603,503 (GRCm39) |
P206H |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,583,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
C |
T |
7: 84,596,677 (GRCm39) |
C126Y |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTGACCTTAAGAAGCTG -3'
(R):5'- CTCTCCGTGTTACTGAGAAGG -3'
Sequencing Primer
(F):5'- CTGAGATACAGCTCTTGAGAGACAC -3'
(R):5'- GCATGACATCATCACTGACTGGTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation