Mutagenetix > Incidental Mutation

Incidental Mutation 'R5659:Brsk1'

443973

Institutional Source

Beutler Lab

Gene Symbol

Brsk1

Ensembl Gene

ENSMUSG00000035390

Gene Name

BR serine/threonine kinase 1

Synonyms

SAD-B, LOC381979

MMRRC Submission

043303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4693635-4718996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4718371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 665 (P665L)

Ref Sequence

ENSEMBL: ENSMUSP00000113448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048248] [ENSMUST00000086363] [ENSMUST00000086364] [ENSMUST00000120836]

AlphaFold

Q5RJI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048248
AA Change: P740L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: P740L

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: ENSMUST00000086363

SMART Domains

Protein: ENSMUSP00000083549
Gene: ENSMUSG00000046456

Domain	Start	End	E-Value	Type
Pfam:Frag1	4	207	7.1e-52	PFAM

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: P665L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: P665L

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	C	18: 36,694,103 (GRCm39)	S105P	probably damaging	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Ap3b2	T	A	7: 81,126,500 (GRCm39)	I367F	probably damaging	Het
Apaf1	A	T	10: 90,898,015 (GRCm39)	C247*	probably null	Het
Aqp8	G	A	7: 123,065,889 (GRCm39)	W228*	probably null	Het
Arhgap32	T	A	9: 32,093,256 (GRCm39)	V178D	probably damaging	Het
Atp10b	T	A	11: 43,136,252 (GRCm39)	W1127R	probably damaging	Het
Bcl6	A	T	16: 23,787,159 (GRCm39)	C580*	probably null	Het
Brd1	T	C	15: 88,597,584 (GRCm39)	T568A	probably benign	Het
Cblc	A	G	7: 19,526,857 (GRCm39)	L125P	probably damaging	Het
Ccdc87	T	C	19: 4,890,878 (GRCm39)	S457P	probably damaging	Het
Cxcr5	C	T	9: 44,424,690 (GRCm39)	M322I	probably benign	Het
Cyb5r4	T	A	9: 86,937,881 (GRCm39)	F300Y	probably benign	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dhx9	A	G	1: 153,347,481 (GRCm39)	V409A	probably damaging	Het
Dnah7b	A	G	1: 46,392,009 (GRCm39)	D3790G	probably damaging	Het
Gin1	A	G	1: 97,703,257 (GRCm39)	T27A	possibly damaging	Het
Gipc1	A	T	8: 84,390,755 (GRCm39)	M287L	probably benign	Het
Kat6a	T	A	8: 23,428,176 (GRCm39)	L1177*	probably null	Het
Klhl20	A	G	1: 160,918,040 (GRCm39)	V82A	probably damaging	Het
Kmt2e	T	C	5: 23,702,805 (GRCm39)	I995T	probably damaging	Het
Lpin1	A	T	12: 16,590,990 (GRCm39)	V814E	probably damaging	Het
Luzp1	T	A	4: 136,269,787 (GRCm39)	V670D	probably damaging	Het
Lyst	C	A	13: 13,809,212 (GRCm39)	A294E	possibly damaging	Het
Olr1	T	A	6: 129,476,992 (GRCm39)	E91V	probably damaging	Het
Or1j1	A	T	2: 36,702,966 (GRCm39)	I46N	probably damaging	Het
Or2k2	A	T	4: 58,785,672 (GRCm39)	F17I	probably damaging	Het
Or8b55	C	T	9: 38,727,072 (GRCm39)	T91I	probably benign	Het
Pam	T	C	1: 97,770,024 (GRCm39)	Y476C	probably damaging	Het
Pcdhac1	T	C	18: 37,225,470 (GRCm39)	L761P	probably damaging	Het
Phf21b	C	T	15: 84,678,101 (GRCm39)	W300*	probably null	Het
Pld2	T	C	11: 70,448,387 (GRCm39)	*945Q	probably null	Het
Ppp1r37	C	T	7: 19,269,448 (GRCm39)	V145M	probably damaging	Het
Rasgrf1	T	A	9: 89,866,342 (GRCm39)	N593K	probably damaging	Het
Rhot1	T	G	11: 80,141,181 (GRCm39)		probably null	Het
Rmnd1	A	T	10: 4,377,382 (GRCm39)	M99K	probably benign	Het
Ros1	G	A	10: 52,019,482 (GRCm39)	T697I	possibly damaging	Het
Scgb1b10	G	T	7: 31,800,303 (GRCm39)	A4S	probably benign	Het
Shc3	T	C	13: 51,670,630 (GRCm39)	Y39C	probably damaging	Het
Slc25a23	A	G	17: 57,352,500 (GRCm39)		probably benign	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Sqor	G	A	2: 122,629,523 (GRCm39)	C127Y	probably benign	Het
Sv2a	G	C	3: 96,097,619 (GRCm39)	W467S	possibly damaging	Het
Togaram2	G	T	17: 71,994,667 (GRCm39)	D39Y	probably damaging	Het
Tspan11	T	A	6: 127,915,240 (GRCm39)		probably null	Het
Usp32	A	G	11: 84,968,240 (GRCm39)	V141A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,473 (GRCm39)	H537R	probably damaging	Het
Zfat	T	C	15: 67,990,862 (GRCm39)	Y1008C	probably damaging	Het
Zfp637	G	A	6: 117,820,291 (GRCm39)	G3E	probably damaging	Het
Zfp788	T	A	7: 41,299,540 (GRCm39)	Y673*	probably null	Het
Zhx2	T	C	15: 57,685,704 (GRCm39)	S358P	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
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
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'- CGGACATAATAACCTCTATTCTGGTTG -3'
(R):5'- AGGCCTAGTTTTGTGTCCCC -3'

Sequencing Primer
(F):5'- AACAACTTGTGGGCGTCAGTTC -3'
(R):5'- ACATACTCCTTGGGCCTTATATACAG -3'

Posted On

2016-11-09