Mutagenetix > Incidental Mutation

Incidental Mutation 'R4758:Stradb'

358281

Institutional Source

Beutler Lab

Gene Symbol

Stradb

Ensembl Gene

ENSMUSG00000026027

Gene Name

STE20-related kinase adaptor beta

Synonyms

PRO1038, D1Ucla2, Als2cr2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59012681-59034281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59027730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 87 (T87A)

Ref Sequence

ENSEMBL: ENSMUSP00000138036 (fasta)

Gene Model

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

AlphaFold

Q8K4T3

Predicted Effect

probably benign
Transcript: ENSMUST00000027185
AA Change: T87A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: T87A

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
AA Change: T87A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027
AA Change: T87A

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
AA Change: T87A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027
AA Change: T87A

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

noncoding transcript
Transcript: ENSMUST00000147637

Predicted Effect

probably benign
Transcript: ENSMUST00000152318

Predicted Effect

probably benign
Transcript: ENSMUST00000153990

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,127,754 (GRCm39)	Y119N	probably damaging	Het
Actn2	T	A	13: 12,303,472 (GRCm39)	K443*	probably null	Het
Adgrb2	A	G	4: 129,903,143 (GRCm39)	N581S	probably damaging	Het
Afg2a	T	A	3: 37,487,385 (GRCm39)	S416T	probably benign	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Aox1	A	G	1: 58,371,741 (GRCm39)	I802V	probably benign	Het
Arhgap45	G	A	10: 79,866,127 (GRCm39)	G995E	probably benign	Het
Capn12	A	C	7: 28,592,148 (GRCm39)	T689P	possibly damaging	Het
Cars1	T	C	7: 143,125,304 (GRCm39)	S312G	probably benign	Het
Cast	T	A	13: 74,887,999 (GRCm39)	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,662,800 (GRCm39)	E72K	possibly damaging	Het
Cd300lg	G	T	11: 101,944,417 (GRCm39)		probably null	Het
Cep41	A	G	6: 30,671,368 (GRCm39)		probably benign	Het
Chrna3	A	G	9: 54,929,560 (GRCm39)	Y93H	probably damaging	Het
Cic	A	G	7: 24,991,636 (GRCm39)	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,135,160 (GRCm39)	V526A	probably benign	Het
Clec4a1	G	T	6: 122,910,825 (GRCm39)	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,159 (GRCm39)	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527 (GRCm39)	C4F	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Decr2	C	A	17: 26,307,914 (GRCm39)	E46D	probably damaging	Het
Dlg1	G	A	16: 31,610,570 (GRCm39)	V284I	possibly damaging	Het
Dnah3	T	C	7: 119,678,629 (GRCm39)	E360G	probably benign	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Dnajc13	A	G	9: 104,049,773 (GRCm39)	F1783L	probably damaging	Het
Eps8l2	T	A	7: 140,940,286 (GRCm39)	D505E	probably damaging	Het
Eral1	G	A	11: 77,966,425 (GRCm39)	T251I	probably benign	Het
Eya3	T	C	4: 132,422,196 (GRCm39)		probably null	Het
Fam120a	G	A	13: 49,034,333 (GRCm39)	T1093I	probably benign	Het
Fbn2	C	T	18: 58,159,458 (GRCm39)	A2424T	probably benign	Het
Git2	G	A	5: 114,868,412 (GRCm39)	T256M	probably damaging	Het
Gm9805	A	T	17: 22,689,871 (GRCm38)	Y34F	probably benign	Het
Itgb7	T	G	15: 102,124,642 (GRCm39)	T792P	probably benign	Het
Jakmip1	T	A	5: 37,285,966 (GRCm39)	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,446,635 (GRCm39)	Y677H	probably damaging	Het
Klhdc4	G	A	8: 122,524,783 (GRCm39)	P382S	probably benign	Het
Knl1	TCC	TC	2: 118,902,213 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,022,269 (GRCm39)	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,078,570 (GRCm39)	M1L	possibly damaging	Het
Lrrc37	A	G	11: 103,505,290 (GRCm39)	V2226A	possibly damaging	Het
Magi3	T	A	3: 103,922,637 (GRCm39)	D1360V	probably benign	Het
Mier2	C	A	10: 79,386,182 (GRCm39)	C23F	probably damaging	Het
Myo1h	C	T	5: 114,487,643 (GRCm39)	R616C	probably damaging	Het
Nars2	A	G	7: 96,622,735 (GRCm39)	D187G	probably damaging	Het
Nbea	T	C	3: 55,912,824 (GRCm39)	M988V	probably benign	Het
Nlrc5	C	A	8: 95,238,956 (GRCm39)	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,043 (GRCm39)	F177L	probably benign	Het
Oas1a	A	G	5: 121,045,401 (GRCm39)	F47L	probably damaging	Het
Oas1f	A	G	5: 120,985,545 (GRCm39)	E30G	probably damaging	Het
Obscn	A	T	11: 58,894,189 (GRCm39)	M6689K	unknown	Het
Obscn	A	T	11: 59,026,743 (GRCm39)	D153E	probably damaging	Het
Or52s6	A	C	7: 103,092,076 (GRCm39)	C85G	probably damaging	Het
Osmr	A	T	15: 6,882,036 (GRCm39)	I36K	probably benign	Het
Pcf11	A	T	7: 92,310,383 (GRCm39)	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,160,706 (GRCm39)	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,492,127 (GRCm39)	C242S	probably benign	Het
Pikfyve	T	A	1: 65,311,674 (GRCm39)	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,369,316 (GRCm39)	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,169,652 (GRCm39)	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prdm10	A	T	9: 31,273,708 (GRCm39)	T985S	probably benign	Het
Proc	T	A	18: 32,256,863 (GRCm39)	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,517,320 (GRCm39)	T365M	probably damaging	Het
Rasa1	A	T	13: 85,382,567 (GRCm39)	D446E	probably benign	Het
Ribc2	T	A	15: 85,025,867 (GRCm39)	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907 (GRCm39)	D385G	probably damaging	Het
Sdk2	A	G	11: 113,717,880 (GRCm39)	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,831,726 (GRCm39)		probably null	Het
Slc43a3	A	G	2: 84,774,869 (GRCm39)	N149S	probably damaging	Het
Specc1l	A	G	10: 75,082,182 (GRCm39)	Q543R	probably damaging	Het
Spef1	T	C	2: 131,014,661 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,969,966 (GRCm39)	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,080,370 (GRCm39)	V821A	probably benign	Het
Stac3	A	G	10: 127,339,214 (GRCm39)	M108V	possibly damaging	Het
Stxbp5l	A	T	16: 36,954,592 (GRCm39)	M906K	probably benign	Het
Tex14	T	C	11: 87,405,311 (GRCm39)	V741A	probably benign	Het
Thoc2l	A	C	5: 104,668,265 (GRCm39)	E929A	possibly damaging	Het
Tpo	C	A	12: 30,125,870 (GRCm39)	G830C	probably damaging	Het
Unc79	T	A	12: 103,128,080 (GRCm39)	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,777,016 (GRCm39)	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,314,473 (GRCm39)	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,208,596 (GRCm39)	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,801,867 (GRCm39)	Y302H	probably benign	Het
Xirp2	A	T	2: 67,346,879 (GRCm39)	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,209,758 (GRCm39)	G684W	probably damaging	Het

Other mutations in Stradb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Stradb	APN	1	59,027,688 (GRCm39)	missense	probably damaging	0.98
IGL00843:Stradb	APN	1	59,033,568 (GRCm39)	missense	probably benign
IGL01288:Stradb	APN	1	59,031,460 (GRCm39)	missense	possibly damaging	0.61
IGL02045:Stradb	APN	1	59,028,937 (GRCm39)	missense	probably damaging	1.00
IGL02818:Stradb	APN	1	59,019,121 (GRCm39)	missense	probably damaging	0.99
P0047:Stradb	UTSW	1	59,028,957 (GRCm39)	missense	probably null	0.86
R0739:Stradb	UTSW	1	59,016,174 (GRCm39)	unclassified	probably benign
R0970:Stradb	UTSW	1	59,016,219 (GRCm39)	missense	possibly damaging	0.92
R1809:Stradb	UTSW	1	59,033,549 (GRCm39)	missense	possibly damaging	0.54
R1930:Stradb	UTSW	1	59,030,264 (GRCm39)	missense	probably benign	0.07
R1931:Stradb	UTSW	1	59,030,264 (GRCm39)	missense	probably benign	0.07
R1932:Stradb	UTSW	1	59,030,264 (GRCm39)	missense	probably benign	0.07
R2570:Stradb	UTSW	1	59,027,743 (GRCm39)	missense	probably damaging	1.00
R2919:Stradb	UTSW	1	59,031,828 (GRCm39)	missense	probably benign	0.44
R3104:Stradb	UTSW	1	59,031,450 (GRCm39)	missense	possibly damaging	0.86
R3105:Stradb	UTSW	1	59,031,450 (GRCm39)	missense	possibly damaging	0.86
R3106:Stradb	UTSW	1	59,031,450 (GRCm39)	missense	possibly damaging	0.86
R3772:Stradb	UTSW	1	59,024,544 (GRCm39)	missense	probably benign	0.04
R4120:Stradb	UTSW	1	59,019,168 (GRCm39)	missense	possibly damaging	0.92
R4417:Stradb	UTSW	1	59,033,531 (GRCm39)	missense	probably benign
R4569:Stradb	UTSW	1	59,019,117 (GRCm39)	nonsense	probably null
R4601:Stradb	UTSW	1	59,032,731 (GRCm39)	missense	probably damaging	0.98
R4786:Stradb	UTSW	1	59,030,367 (GRCm39)	intron	probably benign
R4944:Stradb	UTSW	1	59,019,599 (GRCm39)	missense	probably benign	0.27
R5113:Stradb	UTSW	1	59,030,333 (GRCm39)	intron	probably benign
R5568:Stradb	UTSW	1	59,031,901 (GRCm39)	missense	possibly damaging	0.72
R5765:Stradb	UTSW	1	59,031,903 (GRCm39)	missense	probably benign	0.31
R5970:Stradb	UTSW	1	59,019,175 (GRCm39)	critical splice donor site	probably null
R6234:Stradb	UTSW	1	59,027,707 (GRCm39)	missense	probably damaging	1.00
R7411:Stradb	UTSW	1	59,027,677 (GRCm39)	missense	possibly damaging	0.95
R7511:Stradb	UTSW	1	59,032,108 (GRCm39)	missense	probably damaging	0.97
R7569:Stradb	UTSW	1	59,030,310 (GRCm39)	missense	unknown
R7575:Stradb	UTSW	1	59,027,739 (GRCm39)	missense	probably benign	0.00
R7646:Stradb	UTSW	1	59,033,567 (GRCm39)	missense	probably benign	0.14
R7658:Stradb	UTSW	1	59,031,885 (GRCm39)	missense	probably damaging	0.96
R8306:Stradb	UTSW	1	59,030,356 (GRCm39)	missense	unknown
R8812:Stradb	UTSW	1	59,033,478 (GRCm39)	missense	probably benign	0.16
Z1176:Stradb	UTSW	1	59,032,158 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGTGGTGCTGAGGATAC -3'
(R):5'- ACGTGTTCTTCCCAATCTGG -3'

Sequencing Primer
(F):5'- TGAGGATACCTGAGCCTTTTC -3'
(R):5'- CCCAATCTGGTAACTGCATGACTTAG -3'

Posted On

2015-11-11