Incidental Mutation 'R2939:Brsk1'
ID 264571
Institutional Source Beutler Lab
Gene Symbol Brsk1
Ensembl Gene ENSMUSG00000035390
Gene Name BR serine/threonine kinase 1
Synonyms SAD-B, LOC381979
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4693635-4718996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4711139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 545 (I545F)
Ref Sequence ENSEMBL: ENSMUSP00000113448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048248] [ENSMUST00000086364] [ENSMUST00000120836] [ENSMUST00000205666] [ENSMUST00000206024]
AlphaFold Q5RJI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000048248
AA Change: I620F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: I620F

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 possibly damaging
Transcript: ENSMUST00000120836
AA Change: I545F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: I545F

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
Meta Mutation Damage Score 0.1031 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
MGI Phenotype PHENOTYPE: Homozygous mutant mice are healthy and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S 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
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
Predicted Primers PCR Primer
(F):5'- AATCCTCTCCTGAGTGAGTTCAAC -3'
(R):5'- TTTAGGCCCAAGAGTCTGTGC -3'

Sequencing Primer
(F):5'- CTCTCCTGAGTGAGTTCAACAAGGG -3'
(R):5'- AAGAGTCTGTGCCTGCCTC -3'
Posted On 2015-02-05