Incidental Mutation 'R5211:Sbk2'
| ID |
403129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbk2
|
| Ensembl Gene |
ENSMUSG00000030433 |
| Gene Name |
SH3-binding domain kinase family, member 2 |
| Synonyms |
LOC381836 |
| MMRRC Submission |
042785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4959133-4967405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4965966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 73
(F73L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032598]
[ENSMUST00000133272]
[ENSMUST00000144863]
[ENSMUST00000182214]
[ENSMUST00000183170]
[ENSMUST00000208109]
|
| AlphaFold |
P0C5K1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032598
AA Change: F73L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032598
Gene: ENSMUSG00000030433
AA Change: F73L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
50 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
62 |
296 |
2.8e-21 |
PFAM |
|
Pfam:Pkinase
|
62 |
329 |
1.5e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133272
|
| SMART Domains |
Protein: ENSMUSP00000120654
Gene: ENSMUSG00000085272
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182214
AA Change: F73L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138504
Gene: ENSMUSG00000030433
AA Change: F73L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
50 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
62 |
296 |
3.7e-21 |
PFAM |
|
Pfam:Pkinase
|
62 |
329 |
6.8e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183170
AA Change: F73L
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138187
Gene: ENSMUSG00000030433
AA Change: F73L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
50 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
62 |
211 |
1.9e-18 |
PFAM |
|
Pfam:Pkinase
|
62 |
212 |
3.2e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208109
AA Change: F73L
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,394,233 (GRCm39) |
S181P |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,733,511 (GRCm39) |
T112S |
probably benign |
Het |
| Ascc2 |
T |
C |
11: 4,623,399 (GRCm39) |
V545A |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,396,550 (GRCm39) |
S69C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,973,962 (GRCm39) |
I1378K |
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,695 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,704,894 (GRCm39) |
V635D |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,731,648 (GRCm39) |
E1218G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,804,145 (GRCm39) |
I319V |
probably benign |
Het |
| Esd |
T |
C |
14: 74,978,632 (GRCm39) |
S65P |
probably damaging |
Het |
| Exoc1l |
C |
A |
5: 76,664,250 (GRCm39) |
T113K |
possibly damaging |
Het |
| Fstl3 |
A |
T |
10: 79,616,012 (GRCm39) |
Q166L |
probably benign |
Het |
| Garin1a |
A |
T |
6: 29,286,098 (GRCm39) |
K128* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,757,371 (GRCm39) |
S2445T |
probably benign |
Het |
| Gfy |
C |
A |
7: 44,827,282 (GRCm39) |
L271F |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,284 (GRCm39) |
V66A |
possibly damaging |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Itm2c |
T |
A |
1: 85,834,249 (GRCm39) |
V188E |
probably damaging |
Het |
| Jmjd1c |
C |
G |
10: 67,067,795 (GRCm39) |
S1766C |
probably damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,538 (GRCm39) |
T255A |
probably benign |
Het |
| Kdm4d |
A |
C |
9: 14,374,400 (GRCm39) |
V486G |
probably benign |
Het |
| Krt18 |
T |
G |
15: 101,939,888 (GRCm39) |
I362S |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Ly6f |
G |
A |
15: 75,143,652 (GRCm39) |
V120M |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,451,321 (GRCm39) |
V1524A |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,889 (GRCm39) |
V43A |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,348,633 (GRCm39) |
M269L |
probably damaging |
Het |
| Myrfl |
C |
T |
10: 116,634,535 (GRCm39) |
V620I |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,783,381 (GRCm39) |
C908Y |
probably damaging |
Het |
| Nyap2 |
T |
A |
1: 81,064,991 (GRCm39) |
M1K |
probably null |
Het |
| Olfml3 |
A |
T |
3: 103,644,515 (GRCm39) |
H51Q |
probably benign |
Het |
| Or11h6 |
C |
T |
14: 50,880,710 (GRCm39) |
T324I |
possibly damaging |
Het |
| Pcdhb1 |
G |
A |
18: 37,399,704 (GRCm39) |
V552I |
probably benign |
Het |
| Pm20d1 |
T |
A |
1: 131,734,647 (GRCm39) |
I353N |
possibly damaging |
Het |
| Scn10a |
A |
C |
9: 119,490,298 (GRCm39) |
L548R |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,204,117 (GRCm39) |
Y68C |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,707,093 (GRCm39) |
V611A |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,769,814 (GRCm39) |
M164V |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,041,626 (GRCm39) |
S43G |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,723,651 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,746,257 (GRCm39) |
Y535C |
possibly damaging |
Het |
|
| Other mutations in Sbk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Sbk2
|
APN |
7 |
4,960,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01595:Sbk2
|
APN |
7 |
4,960,712 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01688:Sbk2
|
APN |
7 |
4,960,716 (GRCm39) |
intron |
probably benign |
|
|
IGL02901:Sbk2
|
APN |
7 |
4,960,289 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03392:Sbk2
|
APN |
7 |
4,960,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Sbk2
|
UTSW |
7 |
4,966,121 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2679:Sbk2
|
UTSW |
7 |
4,960,119 (GRCm39) |
splice site |
probably null |
|
|
R3158:Sbk2
|
UTSW |
7 |
4,960,526 (GRCm39) |
nonsense |
probably null |
|
|
R4088:Sbk2
|
UTSW |
7 |
4,960,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Sbk2
|
UTSW |
7 |
4,960,577 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5906:Sbk2
|
UTSW |
7 |
4,960,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Sbk2
|
UTSW |
7 |
4,960,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Sbk2
|
UTSW |
7 |
4,967,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7045:Sbk2
|
UTSW |
7 |
4,961,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7537:Sbk2
|
UTSW |
7 |
4,966,148 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7810:Sbk2
|
UTSW |
7 |
4,961,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:Sbk2
|
UTSW |
7 |
4,960,289 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9304:Sbk2
|
UTSW |
7 |
4,960,507 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9507:Sbk2
|
UTSW |
7 |
4,960,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9749:Sbk2
|
UTSW |
7 |
4,960,333 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGGAAAACTCTGGGGCTC -3'
(R):5'- GCCAATGGAAGTGTCAACTG -3'
Sequencing Primer
(F):5'- TCAGAGAGGTTAAAGCAACTCCCTG -3'
(R):5'- CCAATGGAAGTGTCAACTGTGGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation