Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Stradb'

263032

Institutional Source

Beutler Lab

Gene Symbol

Stradb

Ensembl Gene

ENSMUSG00000026027

Gene Name

STE20-related kinase adaptor beta

Synonyms

Als2cr2, D1Ucla2, PRO1038

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58973522-58995715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58992291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 212 (H212Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027185 (fasta)

Gene Model

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

AlphaFold

Q8K4T3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027185
AA Change: H212Q

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: H212Q

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

noncoding transcript
Transcript: ENSMUST00000054653

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

noncoding transcript
Transcript: ENSMUST00000147637

Predicted Effect

unknown
Transcript: ENSMUST00000152318
AA Change: H55Q

Predicted Effect

probably benign
Transcript: ENSMUST00000153990

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	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
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
R8812:Stradb	UTSW	1	58994319	missense	probably benign	0.16
Z1176:Stradb	UTSW	1	58992999	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCACACTGCTGTTTTATAAAGG -3'
(R):5'- GTCTTGTGGCAGCCATTCAC -3'

Sequencing Primer
(F):5'- TCCGAGGGAATATGAGGATATGTTC -3'
(R):5'- AGGACACAGCTGTCCTTT -3'

Posted On

2015-02-05