Mutagenetix > Incidental Mutation

Incidental Mutation 'R5430:Brsk1'

427127

Institutional Source

Beutler Lab

Gene Symbol

Brsk1

Ensembl Gene

ENSMUSG00000035390

Gene Name

BR serine/threonine kinase 1

Synonyms

SAD-B, LOC381979

MMRRC Submission

042996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5430 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4693635-4718996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4713435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 702 (F702L)

Ref Sequence

ENSEMBL: ENSMUSP00000039517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048248] [ENSMUST00000086364] [ENSMUST00000120836]

AlphaFold

Q5RJI5

Predicted Effect

probably benign
Transcript: ENSMUST00000048248
AA Change: F702L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: F702L

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

probably benign
Transcript: ENSMUST00000120836
AA Change: F627L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: F627L

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: F18L

Meta Mutation Damage Score

0.4305

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

96% (54/56)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice are healthy and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	A	9: 39,963,587 (GRCm39)		noncoding transcript	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ankrd34a	G	A	3: 96,504,837 (GRCm39)	G14R	probably damaging	Het
Arhgef1	C	A	7: 24,611,732 (GRCm39)		probably null	Het
Chrna3	C	T	9: 54,920,192 (GRCm39)	V470I	probably damaging	Het
Cpm	A	G	10: 117,511,986 (GRCm39)	Q310R	possibly damaging	Het
Dennd5a	T	C	7: 109,533,447 (GRCm39)	T108A	probably damaging	Het
Dvl3	C	T	16: 20,342,481 (GRCm39)	R145W	probably damaging	Het
E4f1	G	A	17: 24,663,944 (GRCm39)	A532V	probably damaging	Het
Eid1	A	G	2: 125,515,550 (GRCm39)	T147A	probably damaging	Het
Eipr1	A	T	12: 28,913,015 (GRCm39)	N239Y	probably damaging	Het
Eml5	T	C	12: 98,760,417 (GRCm39)	I1777M	probably damaging	Het
Gm11787	A	T	4: 3,512,786 (GRCm39)		noncoding transcript	Het
Gnat2	T	C	3: 108,005,716 (GRCm39)	L227P	probably damaging	Het
H2-T15	C	T	17: 36,366,967 (GRCm39)	V359I	probably benign	Het
Jag1	T	C	2: 136,943,626 (GRCm39)	H190R	possibly damaging	Het
Kdm7a	A	G	6: 39,126,276 (GRCm39)	W570R	possibly damaging	Het
Lmbrd1	A	G	1: 24,732,061 (GRCm39)	T93A	possibly damaging	Het
Lrch4	T	C	5: 137,636,795 (GRCm39)	S433P	possibly damaging	Het
Lrp1	G	A	10: 127,376,930 (GRCm39)	R4216W	probably damaging	Het
Magohb	A	G	6: 131,266,381 (GRCm39)	Y42H	probably damaging	Het
Melk	A	G	4: 44,309,033 (GRCm39)	H130R	probably damaging	Het
Mettl24	G	T	10: 40,613,780 (GRCm39)	R173L	probably benign	Het
Mup4	A	T	4: 59,960,044 (GRCm39)	H73Q	probably damaging	Het
Mylk2	A	T	2: 152,759,468 (GRCm39)	E386V	probably damaging	Het
Nppb	C	T	4: 148,070,838 (GRCm39)	P71L	probably benign	Het
Oca2	T	C	7: 55,945,208 (GRCm39)	V272A	probably damaging	Het
Or14j6	T	A	17: 38,215,304 (GRCm39)	I289N	probably damaging	Het
Or2t6	C	T	14: 14,175,692 (GRCm38)	R130H	probably benign	Het
Or4c10	A	T	2: 89,760,257 (GRCm39)	I35F	probably benign	Het
Osbpl6	T	C	2: 76,416,482 (GRCm39)	S628P	probably damaging	Het
Papola	T	C	12: 105,775,843 (GRCm39)	V253A	probably damaging	Het
Pex12	T	C	11: 83,188,572 (GRCm39)	D141G	probably damaging	Het
Ppm1k	A	T	6: 57,501,871 (GRCm39)	C97*	probably null	Het
Ptprh	T	A	7: 4,554,046 (GRCm39)	E807V	probably damaging	Het
Sema3a	A	T	5: 13,615,730 (GRCm39)	T385S	probably damaging	Het
Sfn	T	C	4: 133,328,938 (GRCm39)	Y48C	probably damaging	Het
Slc38a8	A	G	8: 120,220,959 (GRCm39)	I200T	probably benign	Het
Smarcal1	T	C	1: 72,665,776 (GRCm39)	V758A	probably damaging	Het
Stmn4	A	G	14: 66,595,463 (GRCm39)	M190V	possibly damaging	Het
Syt3	T	G	7: 44,040,337 (GRCm39)	L190R	possibly damaging	Het
Tbl1xr1	T	A	3: 22,246,246 (GRCm39)	D255E	probably benign	Het
Ttbk2	C	T	2: 120,608,046 (GRCm39)	R191H	probably damaging	Het
Vmn1r238	G	T	18: 3,122,521 (GRCm39)	L298M	possibly damaging	Het
Vmn2r45	A	C	7: 8,486,333 (GRCm39)	Y318*	probably null	Het
Vsig8	T	C	1: 172,387,196 (GRCm39)	I24T	probably damaging	Het
Wdr3	G	A	3: 100,064,643 (GRCm39)	T166I	possibly damaging	Het
Zfp354c	A	G	11: 50,706,022 (GRCm39)	I351T	probably benign	Het
Zfp52	A	G	17: 21,775,329 (GRCm39)	T8A	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
R5419:Brsk1	UTSW	7	4,712,003 (GRCm39)	missense	possibly damaging	0.53
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'- CCTTAAGTGCAGGATAGAGAGC -3'
(R):5'- ATCTATTCCCAACAGTGCAGGG -3'

Sequencing Primer
(F):5'- GACGACAGTCTTGCTTGT -3'
(R):5'- GGAGACCTCAGCAAGACACTG -3'

Posted On

2016-09-01