Incidental Mutation 'IGL01733:Brsk1'
ID105582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brsk1
Ensembl Gene ENSMUSG00000035390
Gene NameBR serine/threonine kinase 1
SynonymsSAD-B, LOC381979
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01733
Quality Score
Status
Chromosome7
Chromosomal Location4690604-4715997 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4706072 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 C T 15: 91,191,614 probably benign Het
Aco1 T G 4: 40,175,738 probably benign Het
Brinp3 T C 1: 146,514,803 V29A probably benign Het
Ccdc178 G T 18: 22,024,812 probably benign Het
Ces1f A G 8: 93,270,014 I217T probably damaging Het
Col6a6 T A 9: 105,709,255 T1856S possibly damaging Het
Cuedc2 C A 19: 46,332,673 V7F probably damaging Het
Cyp2d34 C T 15: 82,618,660 V122M possibly damaging Het
Ddx60 T C 8: 61,983,865 S949P probably damaging Het
Dlg5 G A 14: 24,170,449 R554W probably damaging Het
Fig4 A T 10: 41,277,393 N137K possibly damaging Het
Gpr155 C T 2: 73,353,612 probably null Het
Grk6 A C 13: 55,451,391 N168T possibly damaging Het
Hfe T G 13: 23,706,865 K97T possibly damaging Het
Hsd3b2 C T 3: 98,716,485 E26K probably damaging Het
Impg1 A G 9: 80,341,924 S666P probably damaging Het
Itpkb T G 1: 180,333,169 S287A possibly damaging Het
Kcnh5 T C 12: 74,965,192 D651G probably benign Het
Lemd3 C T 10: 120,933,663 W588* probably null Het
Lepr A G 4: 101,765,082 T404A probably benign Het
Metap1d A G 2: 71,511,433 I124V probably damaging Het
Mrpl33 T C 5: 31,622,389 V54A probably benign Het
Mybl1 A T 1: 9,685,710 S205T possibly damaging Het
Mybpc2 T A 7: 44,506,198 D877V probably benign Het
Nxph2 T C 2: 23,400,125 V163A probably benign Het
Pakap G T 4: 57,856,488 V606L probably benign Het
Pex16 C T 2: 92,378,828 P192S probably damaging Het
Ptprq C A 10: 107,662,599 M872I probably benign Het
Ripor1 C T 8: 105,615,746 R150W possibly damaging Het
Spns2 A T 11: 72,456,510 V423E possibly damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Stoml3 A G 3: 53,498,127 I50V probably benign Het
Taar8c A G 10: 24,101,257 I219T possibly damaging Het
Ubap2 A C 4: 41,195,862 probably benign Het
Zfat T C 15: 68,180,730 D398G probably damaging Het
Other mutations in Brsk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Brsk1 APN 7 4704261 missense probably benign 0.03
IGL03019:Brsk1 APN 7 4710497 intron probably benign
IGL03088:Brsk1 APN 7 4710454 intron probably benign
R0612:Brsk1 UTSW 7 4707426 missense possibly damaging 0.96
R0891:Brsk1 UTSW 7 4704227 missense possibly damaging 0.95
R1455:Brsk1 UTSW 7 4704251 missense probably damaging 1.00
R1728:Brsk1 UTSW 7 4704219 missense probably damaging 1.00
R2884:Brsk1 UTSW 7 4691123 unclassified probably benign
R2939:Brsk1 UTSW 7 4708140 missense possibly damaging 0.53
R4392:Brsk1 UTSW 7 4698750 missense probably damaging 1.00
R4661:Brsk1 UTSW 7 4707299 missense possibly damaging 0.73
R4662:Brsk1 UTSW 7 4707299 missense possibly damaging 0.73
R4756:Brsk1 UTSW 7 4708867 missense possibly damaging 0.72
R4788:Brsk1 UTSW 7 4698955 splice site probably null
R5026:Brsk1 UTSW 7 4704266 missense probably damaging 1.00
R5248:Brsk1 UTSW 7 4708866 missense possibly damaging 0.53
R5267:Brsk1 UTSW 7 4704709 missense probably damaging 1.00
R5419:Brsk1 UTSW 7 4709004 missense possibly damaging 0.53
R5430:Brsk1 UTSW 7 4710436 missense probably benign 0.00
R5625:Brsk1 UTSW 7 4706400 missense probably damaging 1.00
R5659:Brsk1 UTSW 7 4715372 missense possibly damaging 0.93
R6700:Brsk1 UTSW 7 4692701 missense probably damaging 0.99
R6866:Brsk1 UTSW 7 4706407 missense probably damaging 0.98
R7169:Brsk1 UTSW 7 4715404 missense probably benign
Z1088:Brsk1 UTSW 7 4707372 missense possibly damaging 0.96
Z1177:Brsk1 UTSW 7 4704222 missense probably damaging 1.00
Posted On2014-01-21