Incidental Mutation 'R6700:Brsk1'
ID 528210
Institutional Source Beutler Lab
Gene Symbol Brsk1
Ensembl Gene ENSMUSG00000035390
Gene Name BR serine/threonine kinase 1
Synonyms SAD-B, LOC381979
MMRRC Submission 044818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6700 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4693635-4718996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4695700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 62 (V62F)
Ref Sequence ENSEMBL: ENSMUSP00000145970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048248] [ENSMUST00000120836] [ENSMUST00000205666] [ENSMUST00000206024]
AlphaFold Q5RJI5
Predicted Effect probably damaging
Transcript: ENSMUST00000048248
AA Change: V62F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: V62F

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: ENSMUST00000120836
SMART Domains Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390

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 damaging
Transcript: ENSMUST00000205666
AA Change: V26F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000206024
AA Change: V62F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
MGI Phenotype PHENOTYPE: Homozygous mutant mice are healthy and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,881,140 (GRCm39) E504G unknown Het
Aak1 G A 6: 86,941,185 (GRCm39) E660K unknown Het
Abcc9 A G 6: 142,633,013 (GRCm39) I243T possibly damaging Het
Baiap3 A G 17: 25,463,000 (GRCm39) S1013P probably damaging Het
Bdp1 A T 13: 100,162,036 (GRCm39) D2295E probably benign Het
Blm A G 7: 80,113,598 (GRCm39) V1233A possibly damaging Het
Cacna2d1 A G 5: 16,570,458 (GRCm39) E1011G probably damaging Het
Cdh18 A G 15: 23,474,191 (GRCm39) Y687C probably benign Het
Cfap221 T C 1: 119,883,421 (GRCm39) E250G possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cps1 G T 1: 67,268,682 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,760,130 (GRCm39) V34A probably damaging Het
Dnah9 C T 11: 65,846,192 (GRCm39) V2949M probably damaging Het
Dst A C 1: 34,295,404 (GRCm39) Q3454P probably damaging Het
Filip1l T C 16: 57,391,611 (GRCm39) L495P possibly damaging Het
Flnb C A 14: 7,892,189 (GRCm38) H619Q probably damaging Het
Fst G C 13: 114,595,043 (GRCm39) A27G probably benign Het
Ggnbp2 C A 11: 84,730,931 (GRCm39) R364L probably damaging Het
Gins1 C T 2: 150,758,148 (GRCm39) A78V probably damaging Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Golgb1 C T 16: 36,695,946 (GRCm39) probably benign Het
Lin7a A G 10: 107,216,167 (GRCm39) probably null Het
Lrp6 A T 6: 134,456,523 (GRCm39) C914S probably damaging Het
Lrrc8e G A 8: 4,286,034 (GRCm39) G753D probably damaging Het
Mapk4 A G 18: 74,063,882 (GRCm39) Y447H probably damaging Het
Mbl1 A G 14: 40,880,511 (GRCm39) N133S probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nbea T C 3: 55,989,869 (GRCm39) N329S possibly damaging Het
Or13p10 A T 4: 118,523,609 (GRCm39) K298N probably benign Het
Or51k2 G A 7: 103,596,531 (GRCm39) V253M probably damaging Het
Or5b120 A T 19: 13,480,177 (GRCm39) I157F probably damaging Het
Or6k14 G A 1: 173,927,405 (GRCm39) C127Y probably damaging Het
Pik3c3 A G 18: 30,449,954 (GRCm39) E589G probably benign Het
Plb1 A T 5: 32,490,808 (GRCm39) D1035V probably damaging Het
Plekhg1 G T 10: 3,907,373 (GRCm39) M763I probably benign Het
Poc5 A G 13: 96,531,003 (GRCm39) N67S probably benign Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rbm27 A G 18: 42,459,004 (GRCm39) Y735C probably damaging Het
Rhpn2 A T 7: 35,075,594 (GRCm39) N257I possibly damaging Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rp1 G A 1: 4,420,119 (GRCm39) T331M probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc9a9 T C 9: 94,818,364 (GRCm39) S253P possibly damaging Het
St8sia3 C T 18: 64,398,452 (GRCm39) probably benign Het
Strbp T C 2: 37,493,975 (GRCm39) D366G probably null Het
Tbx5 A G 5: 120,009,462 (GRCm39) T324A probably benign Het
Tex15 T A 8: 34,064,917 (GRCm39) I1449N possibly damaging Het
Tmtc3 C T 10: 100,307,339 (GRCm39) V222I probably benign Het
Top3b T C 16: 16,710,533 (GRCm39) S788P possibly damaging Het
Tsc22d4 A G 5: 137,756,785 (GRCm39) D71G probably benign Het
Tubgcp4 T A 2: 121,020,329 (GRCm39) V434E probably benign Het
Ufsp1 A G 5: 137,293,158 (GRCm39) Y36C possibly damaging Het
Unc79 T A 12: 103,091,962 (GRCm39) H1956Q possibly damaging Het
Usp34 A T 11: 23,389,011 (GRCm39) N2217I probably damaging Het
Vmn2r112 A T 17: 22,822,462 (GRCm39) D380V possibly damaging Het
Vmn2r13 A G 5: 109,322,938 (GRCm39) I117T probably benign Het
Vmn2r53 A G 7: 12,315,633 (GRCm39) Y729H probably damaging Het
Wnt3a A T 11: 59,140,587 (GRCm39) L310M probably damaging Het
Zc3h7a T C 16: 10,976,831 (GRCm39) Q155R possibly damaging Het
Other mutations in Brsk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Brsk1 APN 7 4,707,260 (GRCm39) missense probably benign 0.03
IGL01733:Brsk1 APN 7 4,709,071 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTTGGCTACCAGTTCAAATGC -3'
(R):5'- TCAATGAGCTTCAGGATGGCG -3'

Sequencing Primer
(F):5'- CCAGTTCAAATGCAGAAATTCGG -3'
(R):5'- AGCTTCAGGATGGCGATTTCCC -3'
Posted On 2018-07-24