Incidental Mutation 'R5411:Brsk2'
ID |
427478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brsk2
|
Ensembl Gene |
ENSMUSG00000053046 |
Gene Name |
BR serine/threonine kinase 2 |
Synonyms |
SAD-A, 4833424K13Rik |
MMRRC Submission |
042980-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5411 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
141503488-141557981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141554594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 653
(M653T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018971]
[ENSMUST00000075528]
[ENSMUST00000078200]
[ENSMUST00000105989]
[ENSMUST00000172652]
[ENSMUST00000174499]
[ENSMUST00000174309]
[ENSMUST00000173705]
[ENSMUST00000174237]
[ENSMUST00000174405]
|
AlphaFold |
Q69Z98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018971
|
SMART Domains |
Protein: ENSMUSP00000018971 Gene: ENSMUSG00000053046
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: M653T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000074969 Gene: ENSMUSG00000053046 AA Change: M653T
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
|
SMART Domains |
Protein: ENSMUSP00000077330 Gene: ENSMUSG00000053046
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
|
SMART Domains |
Protein: ENSMUSP00000101610 Gene: ENSMUSG00000053046
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: ENSMUST00000172652
|
SMART Domains |
Protein: ENSMUSP00000133438 Gene: ENSMUSG00000053046
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 |
probably benign
Transcript: ENSMUST00000172967
|
SMART Domains |
Protein: ENSMUSP00000133750 Gene: ENSMUSG00000053046
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 |
unknown
Transcript: ENSMUST00000173941
AA Change: M26T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173330
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174499
AA Change: M653T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000134201 Gene: ENSMUSG00000053046 AA Change: M653T
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 |
unknown
Transcript: ENSMUST00000173313
AA Change: M190T
|
SMART Domains |
Protein: ENSMUSP00000133868 Gene: ENSMUSG00000053046 AA Change: M190T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
Blast:S_TKc
|
14 |
61 |
3e-21 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210065
|
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: 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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174237
|
SMART Domains |
Protein: ENSMUSP00000134566 Gene: ENSMUSG00000053046
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 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
C |
A |
9: 53,493,946 (GRCm39) |
V392F |
probably damaging |
Het |
Ache |
C |
T |
5: 137,288,326 (GRCm39) |
P11S |
possibly damaging |
Het |
Ache |
T |
A |
5: 137,288,692 (GRCm39) |
|
probably null |
Het |
Acoxl |
A |
T |
2: 127,696,821 (GRCm39) |
H23L |
probably benign |
Het |
Adamtsl1 |
G |
A |
4: 86,306,650 (GRCm39) |
|
probably null |
Het |
Adar |
T |
A |
3: 89,646,519 (GRCm39) |
F45I |
probably benign |
Het |
Adgrf4 |
A |
C |
17: 42,978,104 (GRCm39) |
L413R |
probably damaging |
Het |
Atp6v1g3 |
A |
T |
1: 138,215,627 (GRCm39) |
I96F |
probably benign |
Het |
Cacna1s |
G |
T |
1: 136,033,549 (GRCm39) |
V1275L |
probably benign |
Het |
Ces3b |
T |
C |
8: 105,815,264 (GRCm39) |
V5A |
possibly damaging |
Het |
Chpt1 |
A |
T |
10: 88,312,969 (GRCm39) |
I281N |
probably damaging |
Het |
Col10a1 |
A |
G |
10: 34,270,553 (GRCm39) |
E175G |
probably damaging |
Het |
Col27a1 |
T |
C |
4: 63,142,902 (GRCm39) |
S197P |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,960,471 (GRCm39) |
R3315W |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 77,091,914 (GRCm39) |
E443G |
probably damaging |
Het |
Dhx9 |
G |
T |
1: 153,356,969 (GRCm39) |
S93R |
probably benign |
Het |
Efcab8 |
A |
G |
2: 153,625,676 (GRCm39) |
H112R |
probably damaging |
Het |
Eif3d |
A |
T |
15: 77,843,887 (GRCm39) |
N486K |
probably damaging |
Het |
Esp8 |
C |
T |
17: 40,840,909 (GRCm39) |
R57* |
probably null |
Het |
Eya3 |
A |
T |
4: 132,417,090 (GRCm39) |
I130F |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,143,052 (GRCm39) |
L4266I |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,793,019 (GRCm39) |
D983E |
probably benign |
Het |
Gcc2 |
T |
C |
10: 58,106,791 (GRCm39) |
S640P |
probably damaging |
Het |
Gys2 |
C |
T |
6: 142,394,147 (GRCm39) |
G464R |
probably damaging |
Het |
Heatr5a |
G |
A |
12: 51,935,026 (GRCm39) |
T1659I |
probably damaging |
Het |
Il17ra |
A |
G |
6: 120,458,403 (GRCm39) |
D518G |
probably damaging |
Het |
Kcnk13 |
A |
G |
12: 100,027,510 (GRCm39) |
Y195C |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,759,782 (GRCm39) |
H722L |
probably damaging |
Het |
Luzp1 |
C |
A |
4: 136,270,653 (GRCm39) |
Q959K |
possibly damaging |
Het |
Mep1b |
T |
A |
18: 21,219,306 (GRCm39) |
H153Q |
probably damaging |
Het |
Mfsd13b |
A |
T |
7: 120,599,346 (GRCm39) |
I381F |
probably benign |
Het |
Mvk |
A |
G |
5: 114,597,034 (GRCm39) |
T334A |
probably benign |
Het |
Naa30 |
T |
C |
14: 49,425,008 (GRCm39) |
V320A |
probably damaging |
Het |
Naip5 |
C |
T |
13: 100,382,254 (GRCm39) |
G152S |
possibly damaging |
Het |
Neb |
A |
C |
2: 52,185,384 (GRCm39) |
S949R |
probably damaging |
Het |
Nfya |
A |
T |
17: 48,699,046 (GRCm39) |
I214N |
possibly damaging |
Het |
Nsf |
G |
T |
11: 103,773,637 (GRCm39) |
N292K |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,653,945 (GRCm39) |
T505A |
probably benign |
Het |
Or4c1 |
A |
C |
2: 89,133,920 (GRCm39) |
S5R |
probably benign |
Het |
Or4p7 |
A |
G |
2: 88,221,605 (GRCm39) |
T5A |
probably benign |
Het |
Or5h24 |
T |
A |
16: 58,919,067 (GRCm39) |
H96L |
unknown |
Het |
Or9s23 |
A |
T |
1: 92,501,546 (GRCm39) |
T218S |
probably benign |
Het |
P4ha3 |
A |
T |
7: 99,943,022 (GRCm39) |
R136W |
probably damaging |
Het |
Parp12 |
A |
G |
6: 39,067,142 (GRCm39) |
V550A |
probably damaging |
Het |
Phf11a |
T |
C |
14: 59,532,387 (GRCm39) |
D16G |
probably benign |
Het |
Pramel31 |
T |
A |
4: 144,088,207 (GRCm39) |
M1K |
probably null |
Het |
Rab3gap2 |
A |
G |
1: 185,009,342 (GRCm39) |
|
probably null |
Het |
Sco1 |
A |
G |
11: 66,954,784 (GRCm39) |
D263G |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sfpq |
T |
A |
4: 126,915,516 (GRCm39) |
S103T |
unknown |
Het |
Shisa7 |
G |
A |
7: 4,832,975 (GRCm39) |
R263C |
probably damaging |
Het |
Ssc4d |
T |
A |
5: 135,992,254 (GRCm39) |
D144V |
probably benign |
Het |
Stxbp5l |
G |
A |
16: 36,950,213 (GRCm39) |
P1044L |
probably damaging |
Het |
Tgm6 |
G |
A |
2: 129,987,116 (GRCm39) |
R528Q |
probably benign |
Het |
Tlr3 |
A |
T |
8: 45,849,992 (GRCm39) |
H892Q |
probably benign |
Het |
Tmc2 |
A |
G |
2: 130,082,035 (GRCm39) |
H406R |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,345,397 (GRCm39) |
|
probably null |
Het |
Ttc19 |
A |
G |
11: 62,174,977 (GRCm39) |
I139M |
probably benign |
Het |
Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,681,959 (GRCm39) |
N3004S |
probably damaging |
Het |
Wdr3 |
C |
A |
3: 100,050,300 (GRCm39) |
G746W |
probably damaging |
Het |
Zfp335 |
T |
A |
2: 164,744,165 (GRCm39) |
Q500L |
probably damaging |
Het |
Zfp804b |
A |
T |
5: 6,820,071 (GRCm39) |
D961E |
probably benign |
Het |
Zkscan16 |
CTTCAGCTTTCA |
CTTCA |
4: 58,956,745 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAACCCCTTTGGACTCTGG -3'
(R):5'- TAGCCTGATTGTAGAAATGGGG -3'
Sequencing Primer
(F):5'- TCTGGCCACTCCTGGATCAG -3'
(R):5'- CTACTCTTGGCAGAAGATGGGGC -3'
|
Posted On |
2016-09-01 |