Mutagenetix > Incidental Mutation

Incidental Mutation 'R6866:Brsk1'

535916

Institutional Source

Beutler Lab

Gene Symbol

Brsk1

Ensembl Gene

ENSMUSG00000035390

Gene Name

BR serine/threonine kinase 1

Synonyms

SAD-B, LOC381979

MMRRC Submission

044965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4693635-4718996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4709406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 325 (M325T)

Ref Sequence

ENSEMBL: ENSMUSP00000113448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048248] [ENSMUST00000086364] [ENSMUST00000120836] [ENSMUST00000205666] [ENSMUST00000206024]

AlphaFold

Q5RJI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048248
AA Change: M400T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: M400T

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 damaging
Transcript: ENSMUST00000120836
AA Change: M325T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: M325T

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,598,080 (GRCm39)	T1438A	possibly damaging	Het
Als2	T	A	1: 59,250,292 (GRCm39)	Q484L	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bcl2l13	T	A	6: 120,839,850 (GRCm39)	N49K	probably benign	Het
Bptf	T	C	11: 106,964,406 (GRCm39)	D1596G	probably damaging	Het
Caly	T	C	7: 139,650,532 (GRCm39)	M137V	probably benign	Het
Cdca2	T	C	14: 67,931,115 (GRCm39)	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,056,952 (GRCm39)	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,399,289 (GRCm39)	T381P	probably benign	Het
Cr2	T	A	1: 194,833,999 (GRCm39)	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,610,355 (GRCm39)	N120S	probably benign	Het
Cyfip2	G	A	11: 46,133,286 (GRCm39)	R805*	probably null	Het
Dnah7c	C	A	1: 46,696,403 (GRCm39)	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,676,651 (GRCm39)	E110G	possibly damaging	Het
Extl2	T	A	3: 115,821,002 (GRCm39)	M283K	probably damaging	Het
Extl2	A	G	3: 115,821,001 (GRCm39)	M283V	probably damaging	Het
Focad	T	C	4: 88,321,623 (GRCm39)	I1658T	probably benign	Het
Fstl5	A	T	3: 76,229,532 (GRCm39)	H111L	probably damaging	Het
Garnl3	A	G	2: 32,892,785 (GRCm39)		probably null	Het
Gm3633	T	A	14: 42,462,579 (GRCm39)		probably benign	Het
Il4i1	T	A	7: 44,485,963 (GRCm39)		probably null	Het
Kcnj6	A	T	16: 94,563,536 (GRCm39)	C321S	probably damaging	Het
Kif20a	A	T	18: 34,761,546 (GRCm39)	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,755,274 (GRCm39)		probably benign	Het
Kynu	T	A	2: 43,453,122 (GRCm39)	Y48*	probably null	Het
Ly9	T	C	1: 171,432,847 (GRCm39)	I55M	probably damaging	Het
Mgme1	T	C	2: 144,118,439 (GRCm39)	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800 (GRCm39)	L27H	probably benign	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,115,219 (GRCm39)	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,047,970 (GRCm39)	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,324,349 (GRCm39)	I718T	probably benign	Het
Nptx1	A	G	11: 119,437,476 (GRCm39)		probably null	Het
Or56a42-ps1	T	A	7: 104,775,825 (GRCm39)	M228L	probably benign	Het
Or5k16	A	G	16: 58,736,351 (GRCm39)	Y218H	probably damaging	Het
Or5p76	A	G	7: 108,122,377 (GRCm39)	F260S	probably damaging	Het
Phc3	T	A	3: 30,968,680 (GRCm39)	K783*	probably null	Het
Pkdrej	A	T	15: 85,705,082 (GRCm39)	C285S	probably damaging	Het
Pot1b	T	A	17: 55,960,474 (GRCm39)	T619S	possibly damaging	Het
Pramel32	T	A	4: 88,545,977 (GRCm39)	D455V	probably damaging	Het
Psg21	A	T	7: 18,386,209 (GRCm39)	V259E	probably damaging	Het
Pvr	A	C	7: 19,652,555 (GRCm39)	I120S	probably benign	Het
Rbm17	T	G	2: 11,602,901 (GRCm39)	I68L	probably benign	Het
Rnf138	C	T	18: 21,135,199 (GRCm39)	P28L	probably damaging	Het
Rnf207	C	T	4: 152,396,989 (GRCm39)	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,600,577 (GRCm39)	V255G	probably benign	Het
Slc25a3	A	T	10: 90,955,567 (GRCm39)	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,857,455 (GRCm39)	D896G	probably benign	Het
Slc27a5	T	A	7: 12,731,443 (GRCm39)	T183S	probably benign	Het
Slc33a1	A	T	3: 63,850,744 (GRCm39)	F527I	probably benign	Het
Sting1	T	C	18: 35,872,482 (GRCm39)	H50R	probably damaging	Het
Strn4	A	T	7: 16,562,710 (GRCm39)	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,734,625 (GRCm39)	T107I	probably damaging	Het
Tango6	G	A	8: 107,469,104 (GRCm39)		probably null	Het
Tecrl	G	T	5: 83,461,161 (GRCm39)	P99T	probably damaging	Het
Ticrr	T	C	7: 79,343,705 (GRCm39)	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,005,370 (GRCm39)	R349H	probably damaging	Het
Tjp2	A	G	19: 24,079,355 (GRCm39)	I840T	probably damaging	Het
Tmem45a2	T	A	16: 56,867,386 (GRCm39)	N105I	probably damaging	Het
Tsbp1	T	A	17: 34,678,935 (GRCm39)	C216S	possibly damaging	Het
Zfp148	T	A	16: 33,288,496 (GRCm39)	C162S	probably damaging	Het
Zfp534	T	C	4: 147,758,938 (GRCm39)	K577R	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
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
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'- GGGCATTTATGAGAGCCTCG -3'
(R):5'- CAGAAGGTTCAGGTGTTTCTCC -3'

Sequencing Primer
(F):5'- AGCCTCGCTCTGCTATGC -3'
(R):5'- AGAAGGTTCAGGTGTTTCTCCATTTC -3'

Posted On

2018-10-18