Incidental Mutation 'IGL01576:Brsk2'
| ID |
91253 |
| 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 # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
141503488-141557981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141535292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 38
(I38T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018971]
[ENSMUST00000075528]
[ENSMUST00000078200]
[ENSMUST00000105989]
[ENSMUST00000172652]
[ENSMUST00000173705]
[ENSMUST00000174499]
[ENSMUST00000174405]
[ENSMUST00000174309]
|
| AlphaFold |
Q69Z98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018971
AA Change: I38T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046
AA Change: I38T
| 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 benign
Transcript: ENSMUST00000075528
AA Change: I38T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: I38T
| 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 benign
Transcript: ENSMUST00000078200
AA Change: I38T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046
AA Change: I38T
| 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 benign
Transcript: ENSMUST00000105989
AA Change: I38T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046
AA Change: I38T
| 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 |
possibly damaging
Transcript: ENSMUST00000172652
AA Change: I38T
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046
AA Change: I38T
| 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: I6T
|
| SMART Domains |
Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046
AA Change: I6T
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174499
AA Change: I38T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: I38T
| 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 benign
Transcript: ENSMUST00000174405
AA Change: I38T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134289
Gene: ENSMUSG00000053046
AA Change: I38T
| 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: ENSMUST00000174309
|
| SMART Domains |
Protein: ENSMUSP00000134310
Gene: ENSMUSG00000053046
| 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 |
probably benign
Transcript: ENSMUST00000173924
|
| SMART Domains |
Protein: ENSMUSP00000134153
Gene: ENSMUSG00000053046
| 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 |
|
| 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 |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
possibly damaging |
Het |
|
| Other mutations in Brsk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02243:Brsk2
|
APN |
7 |
141,547,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation