Mutagenetix > Incidental Mutations

Incidental Mutation 'R8812:Stradb'

672452

Institutional Source

Beutler Lab

Gene Symbol

Stradb

Ensembl Gene

ENSMUSG00000026027

Gene Name

STE20-related kinase adaptor beta

Synonyms

Als2cr2, D1Ucla2, PRO1038

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58973522-58995715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58994319 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 380 (I380M)

Ref Sequence

ENSEMBL: ENSMUSP00000027185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027185] [ENSMUST00000114296] [ENSMUST00000123301] [ENSMUST00000153990]

Predicted Effect

probably benign
Transcript: ENSMUST00000027185
AA Change: I380M

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: I380M

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	58	290	3.2e-26	PFAM
Pfam:Pkinase	58	369	7.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114296

SMART Domains

Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027

Domain	Start	End	E-Value	Type
Pfam:Pkinase	58	185	1.1e-16	PFAM
Pfam:Pkinase_Tyr	58	188	1.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123301

SMART Domains

Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027

Domain	Start	End	E-Value	Type
Pfam:Pkinase	58	184	2.7e-17	PFAM
Pfam:Pkinase_Tyr	58	185	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152318

Predicted Effect

probably benign
Transcript: ENSMUST00000153990

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	Het

Other mutations in Stradb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Stradb	APN	1	58988529	missense	probably damaging	0.98
IGL00843:Stradb	APN	1	58994409	missense	probably benign
IGL01288:Stradb	APN	1	58992301	missense	possibly damaging	0.61
IGL02045:Stradb	APN	1	58989778	missense	probably damaging	1.00
IGL02818:Stradb	APN	1	58979962	missense	probably damaging	0.99
P0047:Stradb	UTSW	1	58989798	missense	probably null	0.86
R0739:Stradb	UTSW	1	58977015	unclassified	probably benign
R0970:Stradb	UTSW	1	58977060	missense	possibly damaging	0.92
R1809:Stradb	UTSW	1	58994390	missense	possibly damaging	0.54
R1930:Stradb	UTSW	1	58991105	missense	probably benign	0.07
R1931:Stradb	UTSW	1	58991105	missense	probably benign	0.07
R1932:Stradb	UTSW	1	58991105	missense	probably benign	0.07
R2570:Stradb	UTSW	1	58988584	missense	probably damaging	1.00
R2919:Stradb	UTSW	1	58992669	missense	probably benign	0.44
R3104:Stradb	UTSW	1	58992291	missense	possibly damaging	0.86
R3105:Stradb	UTSW	1	58992291	missense	possibly damaging	0.86
R3106:Stradb	UTSW	1	58992291	missense	possibly damaging	0.86
R3772:Stradb	UTSW	1	58985385	missense	probably benign	0.04
R4120:Stradb	UTSW	1	58980009	missense	possibly damaging	0.92
R4417:Stradb	UTSW	1	58994372	missense	probably benign
R4569:Stradb	UTSW	1	58979958	nonsense	probably null
R4601:Stradb	UTSW	1	58993572	missense	probably damaging	0.98
R4758:Stradb	UTSW	1	58988571	missense	probably benign	0.02
R4786:Stradb	UTSW	1	58991208	intron	probably benign
R4944:Stradb	UTSW	1	58980440	missense	probably benign	0.27
R5113:Stradb	UTSW	1	58991174	intron	probably benign
R5568:Stradb	UTSW	1	58992742	missense	possibly damaging	0.72
R5765:Stradb	UTSW	1	58992744	missense	probably benign	0.31
R5970:Stradb	UTSW	1	58980016	critical splice donor site	probably null
R6234:Stradb	UTSW	1	58988548	missense	probably damaging	1.00
R7411:Stradb	UTSW	1	58988518	missense	possibly damaging	0.95
R7511:Stradb	UTSW	1	58992949	missense	probably damaging	0.97
R7569:Stradb	UTSW	1	58991151	missense	unknown
R7575:Stradb	UTSW	1	58988580	missense	probably benign	0.00
R7646:Stradb	UTSW	1	58994408	missense	probably benign	0.14
R7658:Stradb	UTSW	1	58992726	missense	probably damaging	0.96
R8306:Stradb	UTSW	1	58991197	missense	unknown
Z1176:Stradb	UTSW	1	58992999	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCGATTGTCAGAACTAGAAGC -3'
(R):5'- ATTCTCCAGTGCACCAACTG -3'

Sequencing Primer
(F):5'- TGTCAGAACTAGAAGCATTTAAAAGG -3'
(R):5'- GTCATTTGTACCTAACAGGACCG -3'

Posted On

2021-04-30