Incidental Mutation 'R4392:Brsk1'
ID 326407
Institutional Source Beutler Lab
Gene Symbol Brsk1
Ensembl Gene ENSMUSG00000035390
Gene Name BR serine/threonine kinase 1
Synonyms SAD-B, LOC381979
MMRRC Submission 041127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4392 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4693635-4718996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4701749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 170 (I170N)
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: I170N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: I170N

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 damaging
Transcript: ENSMUST00000120836
AA Change: I95N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: I95N

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: I134N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000206024
AA Change: I170N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9395 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 96.1%
  • 20x: 90.5%
Validation Efficiency 95% (69/73)
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
4931414P19Rik C T 14: 54,822,435 (GRCm39) probably null Het
Abca13 A C 11: 9,259,034 (GRCm39) K2920T possibly damaging Het
Amy2b T G 3: 113,056,724 (GRCm39) noncoding transcript Het
Anapc1 T C 2: 128,518,169 (GRCm39) probably null Het
Bmp7 T G 2: 172,758,335 (GRCm39) D178A probably benign Het
Bub3 C T 7: 131,168,064 (GRCm39) A187V probably benign Het
Cacna2d2 A G 9: 107,277,479 (GRCm39) H71R possibly damaging Het
Cdrt4 A T 11: 62,842,179 (GRCm39) K20N probably benign Het
Clec12a A T 6: 129,330,427 (GRCm39) probably benign Het
Col12a1 T A 9: 79,569,770 (GRCm39) Y1600F probably damaging Het
Cyp2a12 T A 7: 26,728,700 (GRCm39) I57N probably damaging Het
Dip2b T C 15: 100,059,917 (GRCm39) L223P probably damaging Het
Dnah5 G A 15: 28,289,375 (GRCm39) R1188H probably benign Het
Dop1a T C 9: 86,385,196 (GRCm39) probably benign Het
Efcab5 T A 11: 76,981,284 (GRCm39) N1354I probably damaging Het
Eif4b T A 15: 101,995,076 (GRCm39) probably null Het
Erlec1 A G 11: 30,893,697 (GRCm39) probably null Het
Esp24 T C 17: 39,350,968 (GRCm39) probably benign Het
Esp34 T C 17: 38,870,382 (GRCm39) V24A possibly damaging Het
Fbxw15 T A 9: 109,397,300 (GRCm39) probably benign Het
Foxc2 T C 8: 121,844,191 (GRCm39) S280P probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Grk3 A G 5: 113,068,002 (GRCm39) F467S probably damaging Het
Grwd1 C T 7: 45,477,204 (GRCm39) G228S probably damaging Het
Gtf2i T C 5: 134,289,483 (GRCm39) E399G probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Ift56 A G 6: 38,358,492 (GRCm39) probably benign Het
Lhx4 A G 1: 155,585,880 (GRCm39) Y83H probably damaging Het
Mdga1 T C 17: 30,069,630 (GRCm39) T413A probably damaging Het
Mideas A T 12: 84,219,885 (GRCm39) D356E probably benign Het
Mmrn2 T A 14: 34,119,573 (GRCm39) L184H probably damaging Het
Mroh2a C T 1: 88,187,311 (GRCm39) R133C probably damaging Het
Myh13 A C 11: 67,235,707 (GRCm39) probably null Het
Nkain3 C A 4: 20,282,985 (GRCm39) R116L possibly damaging Het
Nxph2 A C 2: 23,290,284 (GRCm39) Q212P probably damaging Het
Or4f7d-ps1 T C 2: 111,674,690 (GRCm39) noncoding transcript Het
Or4k15c A G 14: 50,322,060 (GRCm39) F26S probably benign Het
Otog T C 7: 45,934,548 (GRCm39) Y1369H probably damaging Het
Prl A G 13: 27,248,334 (GRCm39) I131V possibly damaging Het
Ptprg A T 14: 12,142,467 (GRCm38) I373F possibly damaging Het
Rad18 A T 6: 112,670,490 (GRCm39) C25S probably damaging Het
Rgs12 A G 5: 35,189,655 (GRCm39) T678A probably damaging Het
Scaper T A 9: 55,765,399 (GRCm39) E557V probably damaging Het
Scube3 C T 17: 28,383,762 (GRCm39) P511L probably null Het
Sgpl1 A G 10: 60,940,231 (GRCm39) probably benign Het
Slc10a1 C A 12: 81,014,578 (GRCm39) E47D probably damaging Het
Sptbn4 T C 7: 27,117,896 (GRCm39) N369S probably damaging Het
Sstr5 T C 17: 25,710,198 (GRCm39) T344A probably benign Het
Tgm4 C T 9: 122,895,817 (GRCm39) T631I probably benign Het
Tmprss15 A G 16: 78,821,326 (GRCm39) Y457H probably damaging Het
Trpm7 A T 2: 126,637,429 (GRCm39) probably null Het
Trpm7 A T 2: 126,690,458 (GRCm39) W207R probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Usp2 A T 9: 44,002,556 (GRCm39) H384L probably damaging Het
Vmn2r27 C T 6: 124,207,135 (GRCm39) V169I probably benign Het
Vopp1 A C 6: 57,739,461 (GRCm39) F29C probably damaging Het
Wrn T C 8: 33,741,860 (GRCm39) D953G probably damaging Het
Zfp759 T A 13: 67,287,707 (GRCm39) C419* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CAGGCTTCCCATACATGTGCAC -3'
(R):5'- TCTGGACATGCGTAATGGGG -3'

Sequencing Primer
(F):5'- CCTCGACTACATAATTGCTGTGAGG -3'
(R):5'- GGGACCTGGAGAAAGAGAAAGATAG -3'
Posted On 2015-07-06