Incidental Mutation 'R0002:Sbk3'
| ID |
157134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbk3
|
| Ensembl Gene |
ENSMUSG00000085272 |
| Gene Name |
SH3 domain binding kinase family, member 3 |
| Synonyms |
LOC381835, Gm1078 |
| MMRRC Submission |
038298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0002 (G1)
|
| Quality Score |
51 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4968259-4974167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4973630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 17
(D17G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133272]
[ENSMUST00000144863]
|
| AlphaFold |
P0C5K0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133272
AA Change: D17G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120654
Gene: ENSMUSG00000085272
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
43 |
268 |
1.8e-17 |
PFAM |
|
Pfam:Pkinase
|
43 |
304 |
1.7e-30 |
PFAM |
|
Pfam:Kinase-like
|
130 |
262 |
1.6e-8 |
PFAM |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144863
|
| SMART Domains |
Protein: ENSMUSP00000122507
Gene: ENSMUSG00000085272
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
24 |
248 |
3.1e-17 |
PFAM |
|
Pfam:Pkinase
|
24 |
284 |
5.6e-32 |
PFAM |
|
Pfam:Kinase-like
|
111 |
237 |
2.5e-7 |
PFAM |
|
low complexity region
|
290 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
328 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2110 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2 |
T |
C |
1: 106,640,241 (GRCm39) |
R124G |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,391,551 (GRCm39) |
|
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,830,114 (GRCm39) |
Q295* |
probably null |
Het |
| Cdhr5 |
G |
T |
7: 140,849,933 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
A |
C |
3: 62,388,260 (GRCm39) |
L625W |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,801 (GRCm39) |
D121E |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,340,885 (GRCm39) |
V849A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,211,231 (GRCm39) |
W286R |
probably damaging |
Het |
| Pate14 |
A |
T |
9: 36,548,655 (GRCm39) |
D59E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,783,947 (GRCm39) |
D312G |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,803 (GRCm39) |
I59V |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,606 (GRCm39) |
A234V |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,701,770 (GRCm39) |
Y624H |
probably damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,813 (GRCm39) |
Y683C |
probably damaging |
Het |
|
| Other mutations in Sbk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0344:Sbk3
|
UTSW |
7 |
4,970,404 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1396:Sbk3
|
UTSW |
7 |
4,970,452 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2115:Sbk3
|
UTSW |
7 |
4,970,415 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4073:Sbk3
|
UTSW |
7 |
4,973,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Sbk3
|
UTSW |
7 |
4,972,979 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5347:Sbk3
|
UTSW |
7 |
4,970,422 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5819:Sbk3
|
UTSW |
7 |
4,972,996 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6535:Sbk3
|
UTSW |
7 |
4,972,840 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6957:Sbk3
|
UTSW |
7 |
4,970,522 (GRCm39) |
missense |
probably benign |
|
|
R8360:Sbk3
|
UTSW |
7 |
4,970,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Sbk3
|
UTSW |
7 |
4,972,991 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGAGAATTTGAAGTCCACCCC -3'
(R):5'- ATATCTGGCTGCCTCCCTCAAGTG -3'
Sequencing Primer
(F):5'- ACCCCTTGGTGGCTGAAC -3'
(R):5'- GACCCCTAATTCTGCTAGGAC -3'
|
| Posted On |
2014-02-14 |
Incidental Mutation