Incidental Mutation 'R6535:Sbk3'
| ID |
520329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbk3
|
| Ensembl Gene |
ENSMUSG00000085272 |
| Gene Name |
SH3 domain binding kinase family, member 3 |
| Synonyms |
LOC381835, Gm1078 |
| MMRRC Submission |
044661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4968259-4974167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 4972840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 110
(M110R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133272]
[ENSMUST00000144863]
|
| AlphaFold |
P0C5K0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133272
AA Change: M129R
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120654
Gene: ENSMUSG00000085272
AA Change: M129R
| 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 |
possibly damaging
Transcript: ENSMUST00000144863
AA Change: M110R
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122507
Gene: ENSMUSG00000085272
AA Change: M110R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,750,920 (GRCm39) |
S495N |
probably benign |
Het |
| Ank3 |
G |
T |
10: 69,713,684 (GRCm39) |
A448S |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,781,950 (GRCm39) |
*47W |
probably null |
Het |
| B4gat1 |
T |
C |
19: 5,089,558 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cers1 |
T |
A |
8: 70,782,804 (GRCm39) |
V58D |
probably damaging |
Het |
| Chrm1 |
T |
A |
19: 8,656,437 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,751,122 (GRCm39) |
E177V |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,415,788 (GRCm39) |
|
probably null |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,070,570 (GRCm39) |
L400P |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,493,924 (GRCm39) |
S2P |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,351 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 26,980,127 (GRCm39) |
L1896R |
probably damaging |
Het |
| Ly6g6g |
T |
C |
15: 74,644,074 (GRCm39) |
S81G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,365,728 (GRCm39) |
V3011D |
possibly damaging |
Het |
| Macrod1 |
A |
G |
19: 7,034,515 (GRCm39) |
D86G |
probably damaging |
Het |
| Mettl8 |
G |
T |
2: 70,803,733 (GRCm39) |
H185N |
possibly damaging |
Het |
| Mipol1 |
A |
C |
12: 57,352,886 (GRCm39) |
Q75P |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,118,900 (GRCm39) |
V125M |
probably damaging |
Het |
| Pole |
A |
C |
5: 110,472,673 (GRCm39) |
Y1618S |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,381,241 (GRCm39) |
V21A |
unknown |
Het |
| Rhbdl1 |
A |
T |
17: 26,054,799 (GRCm39) |
Y111* |
probably null |
Het |
| Scn8a |
G |
A |
15: 100,857,588 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,190 (GRCm39) |
S10P |
probably damaging |
Het |
| Tshz3 |
T |
C |
7: 36,468,214 (GRCm39) |
S68P |
probably damaging |
Het |
| Vmn1r88 |
C |
T |
7: 12,912,112 (GRCm39) |
T156I |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,826,131 (GRCm39) |
H177R |
probably damaging |
Het |
|
| Other mutations in Sbk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0002:Sbk3
|
UTSW |
7 |
4,973,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGCCTCGAAGCTGTATACAC -3'
(R):5'- AACTGTGGCCCTTAAGCTCC -3'
Sequencing Primer
(F):5'- TCCTAGCTTGCGTTTGGAC -3'
(R):5'- GCCCTTAAGCTCCTCCGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation