Incidental Mutation 'R1364:Csn1s1'
ID |
162853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csn1s1
|
Ensembl Gene |
ENSMUSG00000070702 |
Gene Name |
casein alpha s1 |
Synonyms |
Csna |
MMRRC Submission |
039429-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1364 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87814067-87830437 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 87825443 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: ENSMUST00000198432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200344
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199533
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
Validation Efficiency |
100% (38/38) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
A |
10: 20,848,055 (GRCm39) |
L488I |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,041,179 (GRCm39) |
F2519S |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,956,654 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 103,985,363 (GRCm39) |
S1920T |
possibly damaging |
Het |
Dnah17 |
T |
A |
11: 118,016,432 (GRCm39) |
|
probably benign |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,949,043 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
A |
9: 66,307,375 (GRCm39) |
L1023Q |
probably damaging |
Het |
Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
Hycc1 |
T |
C |
5: 24,170,351 (GRCm39) |
T333A |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,798,106 (GRCm39) |
M906V |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,858,672 (GRCm39) |
L1130Q |
probably damaging |
Het |
Nebl |
A |
T |
2: 17,397,848 (GRCm39) |
|
probably benign |
Het |
Or10q1b |
T |
C |
19: 13,682,809 (GRCm39) |
V206A |
probably benign |
Het |
Otud7b |
A |
G |
3: 96,058,768 (GRCm39) |
D320G |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,225,310 (GRCm39) |
E563G |
possibly damaging |
Het |
Prkd3 |
T |
C |
17: 79,264,687 (GRCm39) |
T643A |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Ripk3 |
A |
C |
14: 56,022,717 (GRCm39) |
|
probably null |
Het |
Sgsm3 |
T |
C |
15: 80,892,143 (GRCm39) |
F237S |
probably damaging |
Het |
Slit3 |
G |
A |
11: 35,560,934 (GRCm39) |
V960I |
probably benign |
Het |
Sptbn2 |
T |
C |
19: 4,782,693 (GRCm39) |
L543P |
probably damaging |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Unkl |
A |
G |
17: 25,408,597 (GRCm39) |
I54V |
probably benign |
Het |
Wdr75 |
A |
G |
1: 45,838,222 (GRCm39) |
T44A |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCATCCTGATTTTGCATAGGGCTG -3'
(R):5'- CTGACACTGTACTACTGTGCTTGCTAC -3'
Sequencing Primer
(F):5'- ATAGGGCTGTCATGCTATTTCAC -3'
(R):5'- AGTTTCCTTTGGTAAATGTCAAGT -3'
|
Posted On |
2014-03-17 |