Mutagenetix > Incidental Mutation

Incidental Mutation 'R4662:Brsk1'

352928

Institutional Source

Beutler Lab

Gene Symbol

Brsk1

Ensembl Gene

ENSMUSG00000035390

Gene Name

BR serine/threonine kinase 1

Synonyms

SAD-B, LOC381979

MMRRC Submission

042011-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4662 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

4693635-4718996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4710298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 436 (S436P)

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: S511P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: S511P

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: S436P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: S436P

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

probably benign
Transcript: ENSMUST00000123637

Predicted Effect

probably benign
Transcript: ENSMUST00000205666

Predicted Effect

probably benign
Transcript: ENSMUST00000206024

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,891,939 (GRCm39)	Q67L	probably benign	Het
Adam34l	T	A	8: 44,080,116 (GRCm39)	Y36F	probably benign	Het
Adrb1	A	G	19: 56,711,206 (GRCm39)	T135A	probably damaging	Het
Ark2n	T	A	18: 77,762,186 (GRCm39)	Q42L	probably benign	Het
Asxl2	G	T	12: 3,477,193 (GRCm39)	W13L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Camk2a	T	C	18: 61,074,411 (GRCm39)	Y39H	probably damaging	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chek2	T	A	5: 111,014,908 (GRCm39)	V459D	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cobl	A	G	11: 12,203,672 (GRCm39)	V1003A	probably benign	Het
Ctsll3	A	G	13: 60,947,416 (GRCm39)	F257L	possibly damaging	Het
Dnajc13	A	C	9: 104,084,957 (GRCm39)	F819V	probably damaging	Het
Dram1	C	A	10: 88,161,246 (GRCm39)	V208L	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eml6	A	T	11: 29,727,390 (GRCm39)	V1244E	probably damaging	Het
Ethe1	G	A	7: 24,293,405 (GRCm39)	S17N	probably benign	Het
Foxi1	T	C	11: 34,157,578 (GRCm39)	D149G	probably damaging	Het
Fzd9	T	C	5: 135,278,475 (GRCm39)	E470G	probably damaging	Het
Ggnbp2	A	G	11: 84,753,072 (GRCm39)	F56L	probably damaging	Het
Hao1	G	A	2: 134,364,947 (GRCm39)	R227*	probably null	Het
Hyal1	G	A	9: 107,456,420 (GRCm39)	R369H	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcna2	T	A	3: 107,012,733 (GRCm39)	I438N	probably benign	Het
Lrp1	A	T	10: 127,388,054 (GRCm39)	C3331*	probably null	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mroh9	C	T	1: 162,883,162 (GRCm39)	C439Y	probably damaging	Het
N4bp2l2	T	C	5: 150,574,160 (GRCm39)	D85G	probably damaging	Het
Nr1h2	A	G	7: 44,199,855 (GRCm39)	Y355H	probably damaging	Het
Nr5a2	T	C	1: 136,868,167 (GRCm39)	I322V	probably benign	Het
Nup153	A	C	13: 46,840,750 (GRCm39)	L273V	possibly damaging	Het
Obscn	A	G	11: 58,890,422 (GRCm39)	L7370P	unknown	Het
Or1a1	T	C	11: 74,086,542 (GRCm39)	I71T	probably damaging	Het
Or4b1	T	A	2: 89,980,222 (GRCm39)	I43F	probably damaging	Het
Or5k15	A	G	16: 58,710,287 (GRCm39)	C99R	probably damaging	Het
Prkdc	G	A	16: 15,551,916 (GRCm39)	D2041N	probably damaging	Het
Ptdss1	A	G	13: 67,081,675 (GRCm39)	D35G	possibly damaging	Het
Ptprs	G	T	17: 56,724,666 (GRCm39)	T1118K	probably damaging	Het
Pygb	C	T	2: 150,657,036 (GRCm39)	T329I	probably benign	Het
Rhoh	T	A	5: 66,050,157 (GRCm39)	D142E	probably benign	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Scn1a	T	C	2: 66,181,332 (GRCm39)	I64V	probably benign	Het
Sec16a	A	G	2: 26,320,582 (GRCm39)	W1333R	probably damaging	Het
Shroom1	A	T	11: 53,357,289 (GRCm39)	T651S	possibly damaging	Het
Skint3	C	A	4: 112,134,863 (GRCm39)	Y345*	probably null	Het
Slc1a7	T	A	4: 107,864,751 (GRCm39)	N263K	probably damaging	Het
Sptbn2	C	T	19: 4,789,267 (GRCm39)	R1236C	probably damaging	Het
Tbx21	T	C	11: 96,992,393 (GRCm39)	N226S	probably benign	Het
Thada	A	G	17: 84,743,078 (GRCm39)	L782P	probably damaging	Het
Tle1	T	G	4: 72,055,335 (GRCm39)	I446L	possibly damaging	Het
Trgv1	T	A	13: 19,524,503 (GRCm39)	L76I	possibly damaging	Het
Triobp	A	G	15: 78,877,469 (GRCm39)	D1621G	probably damaging	Het
Trpm2	G	C	10: 77,773,972 (GRCm39)	A481G	probably benign	Het
Unc80	A	T	1: 66,685,595 (GRCm39)	M2240L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vangl1	T	C	3: 102,074,238 (GRCm39)	T290A	probably benign	Het
Vmn1r233	T	A	17: 21,214,393 (GRCm39)	I186F	probably benign	Het
Vmn2r102	G	A	17: 19,901,424 (GRCm39)	C517Y	probably damaging	Het
Vrk2	G	A	11: 26,421,611 (GRCm39)	T449M	possibly damaging	Het
Zfp518a	A	G	19: 40,900,304 (GRCm39)	S78G	probably benign	Het
Zscan25	T	C	5: 145,223,120 (GRCm39)	S131P	unknown	Het
Zscan29	G	A	2: 120,997,096 (GRCm39)	T140I	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
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'- GGCCCTGCTTTTCTACAGAG -3'
(R):5'- TGAGACCCTTACCCTGCATC -3'

Sequencing Primer
(F):5'- TGCTTTTCTACAGAGTCCGG -3'
(R):5'- ATCTTGCGCCGGTGGAAG -3'

Posted On

2015-10-08