Incidental Mutation 'IGL02243:Brsk2'
| ID |
286071 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brsk2
|
| Ensembl Gene |
ENSMUSG00000053046 |
| Gene Name |
BR serine/threonine kinase 2 |
| Synonyms |
SAD-A, 4833424K13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
141503488-141557981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141547036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 493
(F493S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018971]
[ENSMUST00000075528]
[ENSMUST00000078200]
[ENSMUST00000105989]
[ENSMUST00000172652]
[ENSMUST00000174237]
[ENSMUST00000174499]
[ENSMUST00000174309]
[ENSMUST00000174405]
[ENSMUST00000173705]
|
| AlphaFold |
Q69Z98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018971
AA Change: F493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046
AA Change: F493S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075528
AA Change: F493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: F493S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078200
AA Change: F493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046
AA Change: F493S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105989
AA Change: F493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046
AA Change: F493S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172652
AA Change: F515S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046
AA Change: F515S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
432 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172967
AA Change: F461S
|
| SMART Domains |
Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046
AA Change: F461S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
3 |
240 |
6.78e-85 |
SMART |
|
low complexity region
|
379 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173285
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174237
AA Change: F49S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134566
Gene: ENSMUSG00000053046
AA Change: F49S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Blast:S_TKc
|
32 |
79 |
6e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174499
AA Change: F493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: F493S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174309
AA Change: F304S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134310
Gene: ENSMUSG00000053046
AA Change: F304S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
82 |
7.1e-13 |
PFAM |
|
low complexity region
|
221 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173313
AA Change: F30S
|
| SMART Domains |
Protein: ENSMUSP00000133868
Gene: ENSMUSG00000053046
AA Change: F30S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Blast:S_TKc
|
14 |
61 |
3e-21 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173924
AA Change: F321S
|
| SMART Domains |
Protein: ENSMUSP00000134153
Gene: ENSMUSG00000053046
AA Change: F321S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
98 |
3.7e-13 |
PFAM |
|
Pfam:Pkinase
|
1 |
209 |
2.6e-29 |
PFAM |
|
low complexity region
|
239 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174405
|
| SMART Domains |
Protein: ENSMUSP00000134289
Gene: ENSMUSG00000053046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
92 |
1e-13 |
PFAM |
|
Pfam:Pkinase_Tyr
|
20 |
92 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173705
|
| SMART Domains |
Protein: ENSMUSP00000134170
Gene: ENSMUSG00000053046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
111 |
4.4e-10 |
PFAM |
|
Pfam:Pkinase
|
1 |
113 |
2e-24 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice are healthy and fertile. Mice homozygous for a condition allele activated in sensory and motor neurons exhibit partial neonatal lethality, hypokinesis, absnece of gastric milk and abnormal type Ia proprioceptive sensory neuron projections [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
T |
C |
16: 38,162,142 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
| Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
| Glce |
A |
G |
9: 61,977,422 (GRCm39) |
F154S |
probably damaging |
Het |
| Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,525 (GRCm39) |
S164P |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
A |
T |
9: 110,799,125 (GRCm39) |
N158I |
probably damaging |
Het |
| M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
| Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,762,473 (GRCm39) |
H554R |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,399,097 (GRCm39) |
|
probably benign |
Het |
| Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
| Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
| Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
| Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
| Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,276 (GRCm39) |
D494G |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
Het |
|
| Other mutations in Brsk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01576:Brsk2
|
APN |
7 |
141,535,292 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0400:Brsk2
|
UTSW |
7 |
141,552,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Brsk2
|
UTSW |
7 |
141,552,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0972:Brsk2
|
UTSW |
7 |
141,547,441 (GRCm39) |
splice site |
probably benign |
|
|
R1699:Brsk2
|
UTSW |
7 |
141,539,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3928:Brsk2
|
UTSW |
7 |
141,552,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5357:Brsk2
|
UTSW |
7 |
141,538,248 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5411:Brsk2
|
UTSW |
7 |
141,554,594 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5461:Brsk2
|
UTSW |
7 |
141,541,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Brsk2
|
UTSW |
7 |
141,556,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6966:Brsk2
|
UTSW |
7 |
141,538,270 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7560:Brsk2
|
UTSW |
7 |
141,554,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Brsk2
|
UTSW |
7 |
141,539,157 (GRCm39) |
splice site |
probably null |
|
|
R7922:Brsk2
|
UTSW |
7 |
141,546,957 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8254:Brsk2
|
UTSW |
7 |
141,538,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Brsk2
|
UTSW |
7 |
141,538,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Brsk2
|
UTSW |
7 |
141,541,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Brsk2
|
UTSW |
7 |
141,552,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Brsk2
|
UTSW |
7 |
141,547,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Brsk2
|
UTSW |
7 |
141,552,375 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9347:Brsk2
|
UTSW |
7 |
141,552,133 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9445:Brsk2
|
UTSW |
7 |
141,538,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Brsk2
|
UTSW |
7 |
141,536,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9494:Brsk2
|
UTSW |
7 |
141,555,955 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9516:Brsk2
|
UTSW |
7 |
141,546,852 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2015-04-16 |
Incidental Mutation