Incidental Mutation 'R6663:Csn1s1'
| ID |
526868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csn1s1
|
| Ensembl Gene |
ENSMUSG00000070702 |
| Gene Name |
casein alpha s1 |
| Synonyms |
Csna |
| MMRRC Submission |
044783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87814067-87830437 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87823599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 154
(V154A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094641]
[ENSMUST00000197157]
[ENSMUST00000197631]
[ENSMUST00000199506]
|
| AlphaFold |
P19228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094641
AA Change: V154A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092225
Gene: ENSMUSG00000070702
AA Change: V154A
| 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 |
unknown
Transcript: ENSMUST00000197157
AA Change: Y129H
|
| SMART Domains |
Protein: ENSMUSP00000142839
Gene: ENSMUSG00000070702
AA Change: Y129H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197631
AA Change: V154A
|
| SMART Domains |
Protein: ENSMUSP00000142794
Gene: ENSMUSG00000070702
AA Change: V154A
| 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 |
probably benign
Transcript: ENSMUST00000199506
|
| SMART Domains |
Protein: ENSMUSP00000143694
Gene: ENSMUSG00000070702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200344
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
| Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
possibly 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 |
|
|
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 |
|
|
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'- AAAGCTTCCCTGGCTAAGG -3'
(R):5'- ATCCTCCTCTTAGCATATTGATTGG -3'
Sequencing Primer
(F):5'- TTCCCTGTTTCAGGTGAG -3'
(R):5'- CCTCTTAGCATATTGATTGGCATATG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation