Incidental Mutation 'R2400:Csn1s2a'
| ID |
248652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csn1s2a
|
| Ensembl Gene |
ENSMUSG00000061937 |
| Gene Name |
casein alpha s2-like A |
| Synonyms |
Csn1s2a, Csng |
| MMRRC Submission |
040366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R2400 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87922426-87936656 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 87928014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076379]
[ENSMUST00000196585]
[ENSMUST00000196749]
[ENSMUST00000200322]
|
| AlphaFold |
Q02862 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076379
|
| SMART Domains |
Protein: ENSMUSP00000075716
Gene: ENSMUSG00000061937
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143515
Gene: ENSMUSG00000061937
| 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 null
Transcript: ENSMUST00000196749
|
| SMART Domains |
Protein: ENSMUSP00000143715
Gene: ENSMUSG00000061937
| 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 |
noncoding transcript
Transcript: ENSMUST00000200200
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200322
|
| SMART Domains |
Protein: ENSMUSP00000142901
Gene: ENSMUSG00000061937
| 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: ENSMUST00000200210
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,377,566 (GRCm39) |
T133A |
unknown |
Het |
| Adgrl2 |
G |
T |
3: 148,557,570 (GRCm39) |
S519R |
probably damaging |
Het |
| AU041133 |
A |
T |
10: 81,986,742 (GRCm39) |
K132* |
probably null |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,615 (GRCm39) |
N222D |
probably damaging |
Het |
| Cep72 |
C |
A |
13: 74,197,096 (GRCm39) |
A69S |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,900,030 (GRCm39) |
F872I |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,845 (GRCm39) |
D746G |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,210 (GRCm39) |
|
probably null |
Het |
| Fgg |
A |
G |
3: 82,915,494 (GRCm39) |
D37G |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,386,941 (GRCm39) |
S958R |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,064,330 (GRCm39) |
D640G |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,738,828 (GRCm39) |
T2389K |
possibly damaging |
Het |
| Hmgcl |
C |
A |
4: 135,679,679 (GRCm39) |
|
probably null |
Het |
| Mmp11 |
T |
A |
10: 75,761,344 (GRCm39) |
T419S |
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nkiras1 |
T |
A |
14: 18,280,011 (GRCm38) |
V108E |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,238,245 (GRCm39) |
L22P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,021 (GRCm39) |
Y3077H |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,681 (GRCm39) |
N182D |
unknown |
Het |
| Serpinb5 |
A |
G |
1: 106,809,682 (GRCm39) |
T363A |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,110 (GRCm39) |
S197T |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,928 (GRCm39) |
E508D |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,861 (GRCm39) |
F1376L |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,126 (GRCm39) |
S9P |
possibly 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 |
|
R2897:Csn1s2a
|
UTSW |
5 |
87,929,680 (GRCm39) |
missense |
unknown |
|
|
R4034:Csn1s2a
|
UTSW |
5 |
87,929,746 (GRCm39) |
missense |
probably benign |
0.27 |
|
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'- ACCCCTGACTTTCTACTAAAATCATCG -3'
(R):5'- GCATTTGGACTAATTACATGACTGAGG -3'
Sequencing Primer
(F):5'- TCTTCCGAGGAAGTCAGT -3'
(R):5'- CATGACTGAGGTAATACACAGATATC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation