Incidental Mutation 'R4034:Csn1s2a'
ID |
313618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csn1s2a
|
Ensembl Gene |
ENSMUSG00000061937 |
Gene Name |
casein alpha s2-like A |
Synonyms |
Csn1s2a, Csng |
MMRRC Submission |
040962-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4034 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
87922426-87936656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87929746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 115
(Q115R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076379]
[ENSMUST00000196585]
[ENSMUST00000196749]
[ENSMUST00000200322]
|
AlphaFold |
Q02862 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076379
AA Change: Q123R
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000075716 Gene: ENSMUSG00000061937 AA Change: Q123R
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
86 |
N/A |
INTRINSIC |
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196585
AA Change: Q108R
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143515 Gene: ENSMUSG00000061937 AA Change: Q108R
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
low complexity region
|
51 |
80 |
N/A |
INTRINSIC |
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196749
AA Change: Q122R
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143715 Gene: ENSMUSG00000061937 AA Change: Q122R
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
coiled coil region
|
57 |
85 |
N/A |
INTRINSIC |
low complexity region
|
101 |
114 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197544
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199200
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200322
AA Change: Q115R
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142901 Gene: ENSMUSG00000061937 AA Change: Q115R
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
low complexity region
|
51 |
57 |
N/A |
INTRINSIC |
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
low complexity region
|
94 |
107 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200210
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
Aarsd1 |
C |
T |
11: 101,302,158 (GRCm39) |
V301I |
probably damaging |
Het |
Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
Aspa |
T |
C |
11: 73,199,597 (GRCm39) |
K227E |
possibly damaging |
Het |
Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cngb1 |
C |
A |
8: 95,991,078 (GRCm39) |
C708F |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,908,122 (GRCm39) |
|
probably null |
Het |
Muc5ac |
G |
A |
7: 141,353,581 (GRCm39) |
|
probably null |
Het |
Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
Pgm5 |
T |
A |
19: 24,839,021 (GRCm39) |
I45F |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
Sgpp1 |
A |
G |
12: 75,762,964 (GRCm39) |
Y406H |
probably damaging |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
T |
A |
18: 42,652,598 (GRCm39) |
N75K |
unknown |
Het |
Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Vmn1r14 |
G |
A |
6: 57,211,310 (GRCm39) |
R252H |
possibly damaging |
Het |
Wapl |
T |
C |
14: 34,459,871 (GRCm39) |
V1013A |
possibly damaging |
Het |
Zfp37 |
G |
A |
4: 62,109,933 (GRCm39) |
T414I |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably damaging |
Het |
|
Other mutations in Csn1s2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00985:Csn1s2a
|
APN |
5 |
87,932,439 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01829:Csn1s2a
|
APN |
5 |
87,934,569 (GRCm39) |
missense |
unknown |
|
R0137:Csn1s2a
|
UTSW |
5 |
87,926,826 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1503:Csn1s2a
|
UTSW |
5 |
87,923,658 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1799:Csn1s2a
|
UTSW |
5 |
87,926,052 (GRCm39) |
missense |
probably damaging |
0.97 |
R1870:Csn1s2a
|
UTSW |
5 |
87,926,058 (GRCm39) |
missense |
probably benign |
0.27 |
R2400:Csn1s2a
|
UTSW |
5 |
87,928,014 (GRCm39) |
critical splice donor site |
probably null |
|
R2897:Csn1s2a
|
UTSW |
5 |
87,929,680 (GRCm39) |
missense |
unknown |
|
R4360:Csn1s2a
|
UTSW |
5 |
87,929,700 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4377:Csn1s2a
|
UTSW |
5 |
87,923,680 (GRCm39) |
missense |
probably benign |
|
R4834:Csn1s2a
|
UTSW |
5 |
87,929,637 (GRCm39) |
missense |
probably benign |
0.27 |
R4965:Csn1s2a
|
UTSW |
5 |
87,929,697 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6807:Csn1s2a
|
UTSW |
5 |
87,929,731 (GRCm39) |
missense |
probably benign |
|
R7115:Csn1s2a
|
UTSW |
5 |
87,929,664 (GRCm39) |
missense |
probably benign |
0.00 |
R7353:Csn1s2a
|
UTSW |
5 |
87,933,161 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7420:Csn1s2a
|
UTSW |
5 |
87,927,865 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8932:Csn1s2a
|
UTSW |
5 |
87,933,164 (GRCm39) |
missense |
probably benign |
0.05 |
R9074:Csn1s2a
|
UTSW |
5 |
87,934,458 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTTGTCAAACTGGCATAG -3'
(R):5'- TCACACATGAATGGTTTTGCGTG -3'
Sequencing Primer
(F):5'- AAACTTGACCTATGAAGAATAGTCAC -3'
(R):5'- CACATGAATGGTTTTGCGTGATTTAC -3'
|
Posted On |
2015-04-30 |