Mutagenetix > Incidental Mutation

Incidental Mutation 'R5419:Brsk1'

427919

Institutional Source

Beutler Lab

Gene Symbol

Brsk1

Ensembl Gene

ENSMUSG00000035390

Gene Name

BR serine/threonine kinase 1

Synonyms

SAD-B, LOC381979

MMRRC Submission

042987-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4693635-4718996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4712003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 618 (T618A)

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: T693A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: T693A

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

possibly damaging
Transcript: ENSMUST00000120836
AA Change: T618A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: T618A

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

unknown
Transcript: ENSMUST00000123637
AA Change: T9A

Predicted Effect

probably benign
Transcript: ENSMUST00000205666

Predicted Effect

probably benign
Transcript: ENSMUST00000206024

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,220,624 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,143,533 (GRCm39)		probably null	Het
Akap13	A	T	7: 75,259,991 (GRCm39)	T69S	probably benign	Het
Arl1	T	A	10: 88,572,966 (GRCm39)	C80S	probably damaging	Het
Bltp2	T	A	11: 78,162,916 (GRCm39)	L926*	probably null	Het
Cep295	T	C	9: 15,235,533 (GRCm39)	H1982R	probably damaging	Het
Ces5a	A	T	8: 94,226,059 (GRCm39)	S559T	unknown	Het
Clcf1	A	G	19: 4,272,213 (GRCm39)	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Cobll1	A	T	2: 64,933,701 (GRCm39)	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,589,794 (GRCm39)	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,380,848 (GRCm39)	R126*	probably null	Het
Daam2	A	G	17: 49,787,782 (GRCm39)	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,275,621 (GRCm39)	C446S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eif2d	T	C	1: 131,086,035 (GRCm39)	*177R	probably null	Het
Fkbp15	G	A	4: 62,246,114 (GRCm39)	A438V	probably damaging	Het
Gjb5	G	A	4: 127,249,652 (GRCm39)	A164V	probably benign	Het
Grin1	A	T	2: 25,188,285 (GRCm39)		probably null	Het
Grm3	A	G	5: 9,620,233 (GRCm39)	F337S	probably damaging	Het
Hey2	T	A	10: 30,710,019 (GRCm39)	T245S	probably benign	Het
Ifi206	T	C	1: 173,308,797 (GRCm39)	T400A	probably benign	Het
Itga7	G	A	10: 128,779,902 (GRCm39)	E480K	probably null	Het
Itpr1	T	C	6: 108,470,755 (GRCm39)	Y2227H	possibly damaging	Het
Krt8	T	C	15: 101,912,337 (GRCm39)	D113G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	A	G	7: 66,357,843 (GRCm39)		probably benign	Het
Lmf1	A	T	17: 25,881,610 (GRCm39)	D553V	possibly damaging	Het
Lnpep	A	G	17: 17,786,992 (GRCm39)	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,620,716 (GRCm39)	C3587*	probably null	Het
Macf1	A	T	4: 123,290,917 (GRCm39)	D3435E	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Myg1	A	T	15: 102,245,397 (GRCm39)	N206I	probably damaging	Het
Myl12a	T	G	17: 71,301,694 (GRCm39)	R144S	probably benign	Het
Myo5a	T	A	9: 75,055,179 (GRCm39)	I454K	probably damaging	Het
Nwd2	A	G	5: 63,965,051 (GRCm39)	D1545G	probably benign	Het
Ogdhl	T	G	14: 32,061,181 (GRCm39)	D457E	probably damaging	Het
Or5ac20	T	A	16: 59,104,704 (GRCm39)	D52V	probably damaging	Het
Or9s18	A	C	13: 65,300,588 (GRCm39)	L183F	probably damaging	Het
Paf1	A	G	7: 28,095,095 (GRCm39)	I112V	possibly damaging	Het
Pate7	T	A	9: 35,689,407 (GRCm39)		probably null	Het
Pcdhga4	C	T	18: 37,819,798 (GRCm39)	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,127,234 (GRCm39)	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,148,267 (GRCm39)	I676F	probably damaging	Het
Rev3l	T	C	10: 39,700,927 (GRCm39)	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,550,586 (GRCm39)	S868P	probably damaging	Het
Shoc1	A	T	4: 59,049,017 (GRCm39)	M1116K	probably benign	Het
Slc47a2	A	G	11: 61,198,412 (GRCm39)	F428L	probably benign	Het
Slco1a7	C	T	6: 141,681,826 (GRCm39)		probably null	Het
Slco3a1	A	T	7: 73,934,363 (GRCm39)	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,642,090 (GRCm39)	C65*	probably null	Het
Ssu72	T	C	4: 155,800,007 (GRCm39)	F57L	probably damaging	Het
Tanc2	A	G	11: 105,813,709 (GRCm39)	T1718A	probably benign	Het
Tnks	G	C	8: 35,432,720 (GRCm39)	P34A	unknown	Het
Top3a	G	A	11: 60,653,348 (GRCm39)	T42I	probably damaging	Het
Trank1	T	C	9: 111,220,369 (GRCm39)	S2369P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqln1	T	C	13: 58,330,997 (GRCm39)	Q410R	probably damaging	Het
Vmn2r11	A	G	5: 109,207,224 (GRCm39)	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,685,375 (GRCm39)	F129S	probably benign	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
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
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'- CAGTGTACTGTCACAGACCAG -3'
(R):5'- AGAAGGTACCATGAAGCACC -3'

Sequencing Primer
(F):5'- TGTACTGTCACAGACCAGCTTCAG -3'
(R):5'- GGTACCATGAAGCACCTTATAAAATG -3'

Posted On

2016-09-01