Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Stradb'

215320

Institutional Source

Beutler Lab

Gene Symbol

Stradb

Ensembl Gene

ENSMUSG00000026027

Gene Name

STE20-related kinase adaptor beta

Synonyms

Als2cr2, D1Ucla2, PRO1038

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58973522-58995715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58991105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 173 (N173H)

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: N173H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: N173H

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: N173H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027
AA Change: N173H

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: N173H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027
AA Change: N173H

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: N16H

Predicted Effect

probably benign
Transcript: ENSMUST00000153990

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
Aak1	T	G	6: 86,956,336	S430A	unknown	Het
Abhd16a	T	A	17: 35,101,015	F337L	probably benign	Het
Acsl1	C	A	8: 46,530,986	A514E	probably benign	Het
Adam29	T	C	8: 55,873,089	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,599	Q647K	probably benign	Het
Adamts20	T	A	15: 94,404,010	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,342,411	E961G	possibly damaging	Het
AU022751	T	C	X: 6,082,763	E66G	probably benign	Het
AW011738	T	C	4: 156,203,540		probably benign	Het
Bcl9	T	C	3: 97,205,144	M1332V	probably damaging	Het
Birc6	T	C	17: 74,565,982	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,332	I139F	probably damaging	Het
Col4a4	A	C	1: 82,466,600		probably null	Het
Coro2a	A	T	4: 46,539,138	*544R	probably null	Het
Cox15	C	T	19: 43,746,785	R181H	probably benign	Het
Ddx23	G	A	15: 98,650,718	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,133,252	N278D	probably benign	Het
Dgkh	T	C	14: 78,616,505	I265V	probably damaging	Het
Diexf	T	A	1: 193,118,309	K401I	probably damaging	Het
Dpp3	A	T	19: 4,917,860		probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Ece1	A	G	4: 137,938,763	K306R	probably benign	Het
Eif4b	T	C	15: 102,088,976	S309P	unknown	Het
Eml3	G	A	19: 8,937,143	V507M	probably benign	Het
Fat1	C	T	8: 45,044,228	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,907	I309L	probably damaging	Het
Fsip2	T	A	2: 82,986,733	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,638,237	K206E	probably damaging	Het
Gfm1	A	G	3: 67,456,585	K465E	probably benign	Het
Gpld1	A	T	13: 24,943,710	I32L	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,512		probably null	Het
Hoxd12	A	G	2: 74,675,513	T143A	probably benign	Het
Hoxd12	A	G	2: 74,675,531	T149A	probably benign	Het
Hspg2	T	A	4: 137,540,230	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,541,222	N287I	probably damaging	Het
Itga4	G	A	2: 79,313,844		probably null	Het
Itpr2	A	G	6: 146,240,354	V1730A	probably benign	Het
Klkb1	T	A	8: 45,275,477	Q415L	probably benign	Het
Lcn10	A	G	2: 25,684,335	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,536,268	V294A	probably damaging	Het
Lrp5	C	T	19: 3,610,131	V978I	probably benign	Het
Naaa	A	G	5: 92,278,035	V33A	probably benign	Het
Nckap5l	A	G	15: 99,427,261	F454L	probably damaging	Het
Nol10	A	G	12: 17,348,554	M1V	probably null	Het
Olfm1	G	A	2: 28,222,662		probably null	Het
Olfr520	G	T	7: 99,735,860	R239L	possibly damaging	Het
Olfr784	T	A	10: 129,387,876	M81K	probably benign	Het
Olfr849	T	C	9: 19,441,351	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,726,333		probably null	Het
Osbpl1a	T	A	18: 12,905,194	Q269L	probably benign	Het
Papss2	T	A	19: 32,638,968	C191*	probably null	Het
Pbxip1	A	T	3: 89,447,677		probably null	Het
Pdp1	A	G	4: 11,962,074	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612	T452A	probably benign	Het
Polr2a	A	T	11: 69,735,375	Y1612N	unknown	Het
Polr3c	A	T	3: 96,719,298	L270H	probably damaging	Het
Prr11	A	T	11: 87,106,042	L32*	probably null	Het
Ptgfr	T	A	3: 151,835,194	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rps6kb1	A	G	11: 86,532,821	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,093,933	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,267,508	S924P	probably benign	Het
Slc16a5	A	T	11: 115,469,368	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spata3	A	C	1: 86,022,061		probably benign	Het
St8sia6	A	G	2: 13,792,812	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698	R470*	probably null	Het
Sugp1	T	A	8: 70,071,540	D598E	probably benign	Het
Tekt2	T	C	4: 126,322,817		probably null	Het
Tiam2	C	T	17: 3,514,725	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,569,062	S301G	probably benign	Het
Tnrc18	A	T	5: 142,776,324	N515K	unknown	Het
Togaram1	A	G	12: 64,966,935	Y320C	probably damaging	Het
Trim41	A	G	11: 48,807,492	V549A	probably damaging	Het
Ugt2b1	T	A	5: 86,917,841	L446F	probably damaging	Het
Unc5b	T	C	10: 60,772,569	T621A	probably benign	Het
Vmn1r214	C	A	13: 23,035,324	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,553,810	K428*	probably null	Het
Vmn2r81	A	C	10: 79,293,494	I740L	probably damaging	Het
Wdfy3	A	G	5: 101,941,492	L612P	probably damaging	Het
Zfp109	G	A	7: 24,228,736	T424M	probably damaging	Het
Zfp735	A	T	11: 73,711,851	K540N	possibly damaging	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
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
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'- GGCACATGTTCGTCTCCTTATG -3'
(R):5'- TCTGGTGAACGGACATGAATGG -3'

Sequencing Primer
(F):5'- GTTCGTCTCCTTATGATTGAAAAGAG -3'
(R):5'- CGGACATGAATGGTGGGCAC -3'

Posted On

2014-07-14