Incidental Mutation 'IGL01733:Brsk1'
ID |
105582 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Brsk1
|
Ensembl Gene |
ENSMUSG00000035390 |
Gene Name |
BR serine/threonine kinase 1 |
Synonyms |
SAD-B, LOC381979 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01733
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4693635-4718996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4709071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 361
(Y361H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048248]
[ENSMUST00000086364]
[ENSMUST00000120836]
[ENSMUST00000205666]
[ENSMUST00000206024]
|
AlphaFold |
Q5RJI5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048248
AA Change: Y361H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039517 Gene: ENSMUSG00000035390 AA Change: Y361H
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
S_TKc
|
34 |
285 |
6.75e-103 |
SMART |
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
low complexity region
|
430 |
457 |
N/A |
INTRINSIC |
low complexity region
|
492 |
517 |
N/A |
INTRINSIC |
low complexity region
|
523 |
552 |
N/A |
INTRINSIC |
low complexity region
|
668 |
686 |
N/A |
INTRINSIC |
low complexity region
|
746 |
764 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086364
|
SMART Domains |
Protein: ENSMUSP00000083550 Gene: ENSMUSG00000046456
Domain | Start | End | E-Value | Type |
Pfam:Frag1
|
4 |
114 |
1.5e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120836
AA Change: Y286H
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113448 Gene: ENSMUSG00000035390 AA Change: Y286H
Domain | Start | End | E-Value | Type |
S_TKc
|
1 |
210 |
1.19e-71 |
SMART |
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
low complexity region
|
355 |
382 |
N/A |
INTRINSIC |
low complexity region
|
417 |
442 |
N/A |
INTRINSIC |
low complexity region
|
448 |
477 |
N/A |
INTRINSIC |
low complexity region
|
593 |
611 |
N/A |
INTRINSIC |
low complexity region
|
671 |
689 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123637
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205666
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206024
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice are healthy and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
Het |
|
Other mutations in Brsk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01704:Brsk1
|
APN |
7 |
4,707,260 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03019:Brsk1
|
APN |
7 |
4,713,496 (GRCm39) |
intron |
probably benign |
|
IGL03088:Brsk1
|
APN |
7 |
4,713,453 (GRCm39) |
intron |
probably benign |
|
R0612:Brsk1
|
UTSW |
7 |
4,710,425 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0891:Brsk1
|
UTSW |
7 |
4,707,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1455:Brsk1
|
UTSW |
7 |
4,707,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Brsk1
|
UTSW |
7 |
4,707,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R2884:Brsk1
|
UTSW |
7 |
4,694,122 (GRCm39) |
unclassified |
probably benign |
|
R2939:Brsk1
|
UTSW |
7 |
4,711,139 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4392:Brsk1
|
UTSW |
7 |
4,701,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4661:Brsk1
|
UTSW |
7 |
4,710,298 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4662:Brsk1
|
UTSW |
7 |
4,710,298 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4756:Brsk1
|
UTSW |
7 |
4,711,866 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4788:Brsk1
|
UTSW |
7 |
4,701,954 (GRCm39) |
splice site |
probably null |
|
R5026:Brsk1
|
UTSW |
7 |
4,707,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R5248:Brsk1
|
UTSW |
7 |
4,711,865 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5267:Brsk1
|
UTSW |
7 |
4,707,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R5419:Brsk1
|
UTSW |
7 |
4,712,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5430:Brsk1
|
UTSW |
7 |
4,713,435 (GRCm39) |
missense |
probably benign |
0.00 |
R5625:Brsk1
|
UTSW |
7 |
4,709,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R5659:Brsk1
|
UTSW |
7 |
4,718,371 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6700:Brsk1
|
UTSW |
7 |
4,695,700 (GRCm39) |
missense |
probably damaging |
0.99 |
R6866:Brsk1
|
UTSW |
7 |
4,709,406 (GRCm39) |
missense |
probably damaging |
0.98 |
R7169:Brsk1
|
UTSW |
7 |
4,718,403 (GRCm39) |
missense |
probably benign |
|
R8404:Brsk1
|
UTSW |
7 |
4,709,695 (GRCm39) |
missense |
probably damaging |
0.98 |
R8893:Brsk1
|
UTSW |
7 |
4,711,089 (GRCm39) |
missense |
probably damaging |
0.98 |
R9309:Brsk1
|
UTSW |
7 |
4,709,118 (GRCm39) |
critical splice donor site |
probably null |
|
R9311:Brsk1
|
UTSW |
7 |
4,709,722 (GRCm39) |
critical splice donor site |
probably null |
|
R9584:Brsk1
|
UTSW |
7 |
4,709,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Brsk1
|
UTSW |
7 |
4,710,371 (GRCm39) |
missense |
possibly damaging |
0.96 |
Z1177:Brsk1
|
UTSW |
7 |
4,707,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |