Mutagenetix > Incidental Mutation

Incidental Mutation 'R7552:Strada'

584495

Institutional Source

Beutler Lab

Gene Symbol

Strada

Ensembl Gene

ENSMUSG00000069631

Gene Name

STE20-related kinase adaptor alpha

Synonyms

6030402H20Rik, 2610019A05Rik

MMRRC Submission

045621-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R7552 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106053739-106084460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106077830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 45 (S45G)

Ref Sequence

ENSEMBL: ENSMUSP00000102480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007444] [ENSMUST00000103072] [ENSMUST00000106867] [ENSMUST00000152008]

AlphaFold

Q3UUJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000007444

SMART Domains

Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631

Domain	Start	End	E-Value	Type
Pfam:Pkinase	69	379	2.4e-37	PFAM
Pfam:Pkinase_Tyr	70	302	2.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103072

SMART Domains

Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	342	2.2e-35	PFAM
Pfam:Pkinase_Tyr	33	266	2.5e-24	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000106867
AA Change: S45G

SMART Domains

Protein: ENSMUSP00000102480
Gene: ENSMUSG00000069631
AA Change: S45G

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152008

SMART Domains

Protein: ENSMUSP00000115555
Gene: ENSMUSG00000069631

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	159	7.4e-16	PFAM
Pfam:Pkinase_Tyr	33	159	1.5e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	G	10: 80,419,737 (GRCm39)	Y290H	probably benign	Het
Aco2	T	C	15: 81,788,142 (GRCm39)	V257A	probably damaging	Het
Adam26a	C	A	8: 44,023,007 (GRCm39)	C161F	possibly damaging	Het
Adam9	G	A	8: 25,445,988 (GRCm39)	P820S	unknown	Het
Adcy4	G	A	14: 56,010,922 (GRCm39)	T665M	probably benign	Het
Ahnak	T	A	19: 8,984,188 (GRCm39)	M1824K	probably benign	Het
Alpi	T	C	1: 87,026,795 (GRCm39)	N428D	probably benign	Het
Ano5	C	T	7: 51,196,528 (GRCm39)	P153L	probably benign	Het
Atp1a1	A	T	3: 101,489,437 (GRCm39)	L725*	probably null	Het
Atp8b2	G	A	3: 89,854,071 (GRCm39)	T595I	probably damaging	Het
Ccdc66	T	C	14: 27,220,820 (GRCm39)	I35V	possibly damaging	Het
Cd163	A	G	6: 124,284,187 (GRCm39)	T120A	probably benign	Het
Cmah	A	T	13: 24,640,938 (GRCm39)	T396S	possibly damaging	Het
Cmya5	C	T	13: 93,205,820 (GRCm39)	V3350I	probably benign	Het
Commd9	A	C	2: 101,731,410 (GRCm39)	K198N	probably damaging	Het
Cxcr1	A	G	1: 74,231,773 (GRCm39)	V83A	probably benign	Het
D630045J12Rik	A	G	6: 38,125,383 (GRCm39)	S1544P	probably damaging	Het
Ddt	A	T	10: 75,609,048 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,557,585 (GRCm39)	S222P	possibly damaging	Het
Ehd2	A	G	7: 15,684,431 (GRCm39)	I456T	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Esr1	G	A	10: 4,806,903 (GRCm39)	R273H	probably damaging	Het
Fras1	G	A	5: 96,916,297 (GRCm39)	D3444N	probably damaging	Het
Hand2	A	G	8: 57,775,272 (GRCm39)	R111G	probably damaging	Het
Hecw1	A	T	13: 14,490,835 (GRCm39)	V306E	probably damaging	Het
Ift140	T	C	17: 25,252,089 (GRCm39)	I312T	probably benign	Het
Ikbke	A	T	1: 131,199,887 (GRCm39)	L257*	probably null	Het
Kcnk5	G	A	14: 20,192,349 (GRCm39)	P271S	probably benign	Het
Lama1	T	C	17: 68,044,662 (GRCm39)	V187A		Het
Lemd2	A	T	17: 27,412,810 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,679,717 (GRCm39)	D341E	probably benign	Het
Lpcat1	C	T	13: 73,643,014 (GRCm39)	S196L	probably damaging	Het
Lrp1b	A	T	2: 40,567,582 (GRCm39)	D4048E		Het
Lrrfip1	G	A	1: 91,033,005 (GRCm39)	E158K	probably damaging	Het
Mcm5	T	C	8: 75,848,220 (GRCm39)	S490P	probably damaging	Het
Mia3	A	C	1: 183,147,036 (GRCm39)	Y73*	probably null	Het
Minar1	T	A	9: 89,483,888 (GRCm39)	H503L	probably benign	Het
Msr1	A	T	8: 40,077,003 (GRCm39)	N202K	probably benign	Het
N4bp2l2	A	T	5: 150,585,286 (GRCm39)	Y231*	probably null	Het
Nbeal2	A	G	9: 110,482,985 (GRCm39)	W11R	probably benign	Het
Ncor1	T	C	11: 62,264,250 (GRCm39)	E384G	possibly damaging	Het
Neb	A	G	2: 52,137,202 (GRCm39)	V254A		Het
Nlrp9b	T	C	7: 19,779,691 (GRCm39)	S785P	probably benign	Het
Oprd1	T	G	4: 131,841,092 (GRCm39)	I289L	possibly damaging	Het
Or4c10	G	T	2: 89,761,064 (GRCm39)	D304Y	probably benign	Het
Or4s2	A	G	2: 88,473,752 (GRCm39)	I214V	probably benign	Het
Or5m12	A	G	2: 85,734,447 (GRCm39)	V317A	probably benign	Het
Or6a2	T	C	7: 106,600,534 (GRCm39)	T178A	probably benign	Het
Or6c2	T	A	10: 129,362,429 (GRCm39)	F111Y	possibly damaging	Het
Orc1	A	G	4: 108,445,951 (GRCm39)	N23S	probably benign	Het
Paip1	A	T	13: 119,577,356 (GRCm39)	H149L	possibly damaging	Het
Pdhx	A	T	2: 102,877,099 (GRCm39)	D103E	probably benign	Het
Pi4ka	T	C	16: 17,109,080 (GRCm39)	Y1614C		Het
Pias3	ACC	AC	3: 96,608,701 (GRCm39)		probably null	Het
Pigb	A	G	9: 72,941,770 (GRCm39)	V163A	probably benign	Het
Pla2g4d	A	G	2: 120,114,620 (GRCm39)	I37T	possibly damaging	Het
Ppfia1	A	T	7: 144,059,982 (GRCm39)	V610D	probably damaging	Het
Pramel41	G	A	5: 94,596,394 (GRCm39)	C477Y	probably damaging	Het
Prss1	T	C	6: 41,439,507 (GRCm39)	V80A	probably benign	Het
Psph	G	A	5: 129,847,800 (GRCm39)	R49W	probably benign	Het
Qrich2	T	C	11: 116,347,080 (GRCm39)	Y1248C	possibly damaging	Het
Rlbp1	T	A	7: 79,029,861 (GRCm39)	Y124F	probably damaging	Het
Scn4a	T	A	11: 106,239,995 (GRCm39)	E74V	probably benign	Het
Sdk2	A	T	11: 113,764,039 (GRCm39)	I249N	possibly damaging	Het
Sgsh	A	T	11: 119,237,378 (GRCm39)	L412Q	probably damaging	Het
Shank1	C	A	7: 44,002,452 (GRCm39)	D1390E	probably benign	Het
Slc12a6	A	G	2: 112,172,319 (GRCm39)	D421G	probably damaging	Het
Snx29	T	A	16: 11,238,649 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,937 (GRCm39)	Y493C	probably damaging	Het
Stmn4	G	A	14: 66,593,727 (GRCm39)	G40E	probably damaging	Het
Stox2	A	G	8: 47,656,154 (GRCm39)		probably null	Het
Taco1	G	A	11: 105,962,774 (GRCm39)	G154S	probably benign	Het
Tas2r121	T	C	6: 132,677,505 (GRCm39)	M156V	probably benign	Het
Tbc1d31	A	G	15: 57,804,136 (GRCm39)	S384G	probably benign	Het
Tbc1d9	A	T	8: 83,966,560 (GRCm39)	D387V	probably damaging	Het
Tet3	A	G	6: 83,345,289 (GRCm39)	L1716P	probably damaging	Het
Thbs1	A	G	2: 117,943,843 (GRCm39)	K154E	possibly damaging	Het
Ush2a	T	C	1: 187,999,241 (GRCm39)	Y184H	possibly damaging	Het
Vmn1r235	C	A	17: 21,481,713 (GRCm39)	Q13K	probably benign	Het
Vmn2r15	A	T	5: 109,440,774 (GRCm39)	Y361*	probably null	Het
Vmn2r88	A	T	14: 51,648,315 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,248,831 (GRCm39)	V460A	probably benign	Het
Wdr64	A	G	1: 175,613,147 (GRCm39)	N674S	possibly damaging	Het
Zfp592	A	G	7: 80,673,390 (GRCm39)	D118G	probably benign	Het
Zfp763	A	G	17: 33,237,625 (GRCm39)	Y507H	probably benign	Het
Zfp934	T	C	13: 62,640,705 (GRCm39)	E16G	probably damaging	Het
Zfyve26	G	A	12: 79,337,731 (GRCm39)	L94F	probably damaging	Het

Other mutations in Strada

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Strada	APN	11	106,061,976 (GRCm39)	splice site	probably benign
IGL00870:Strada	APN	11	106,062,083 (GRCm39)	missense	probably damaging	1.00
IGL01564:Strada	APN	11	106,064,118 (GRCm39)	missense	probably damaging	1.00
IGL02508:Strada	APN	11	106,059,182 (GRCm39)	missense	probably benign	0.03
IGL02816:Strada	APN	11	106,055,251 (GRCm39)	unclassified	probably benign
IGL03008:Strada	APN	11	106,061,783 (GRCm39)	missense	probably damaging	1.00
IGL03107:Strada	APN	11	106,054,863 (GRCm39)	unclassified	probably benign
R0587:Strada	UTSW	11	106,061,790 (GRCm39)	missense	probably damaging	1.00
R1614:Strada	UTSW	11	106,059,145 (GRCm39)	missense	probably damaging	1.00
R1764:Strada	UTSW	11	106,055,010 (GRCm39)	missense	probably damaging	0.96
R1852:Strada	UTSW	11	106,062,047 (GRCm39)	missense	possibly damaging	0.65
R3772:Strada	UTSW	11	106,055,648 (GRCm39)	missense	probably damaging	0.99
R4329:Strada	UTSW	11	106,077,999 (GRCm39)	utr 5 prime	probably benign
R4538:Strada	UTSW	11	106,058,651 (GRCm39)	missense	probably damaging	1.00
R5532:Strada	UTSW	11	106,061,843 (GRCm39)	missense	probably damaging	1.00
R6102:Strada	UTSW	11	106,059,262 (GRCm39)	missense	probably benign	0.01
R6135:Strada	UTSW	11	106,064,140 (GRCm39)	missense	probably damaging	0.99
R6337:Strada	UTSW	11	106,064,143 (GRCm39)	missense	possibly damaging	0.80
R6773:Strada	UTSW	11	106,055,733 (GRCm39)	missense	probably damaging	0.99
R7155:Strada	UTSW	11	106,061,865 (GRCm39)	missense	probably damaging	1.00
R7509:Strada	UTSW	11	106,077,920 (GRCm39)	missense	unknown
R8510:Strada	UTSW	11	106,061,984 (GRCm39)	missense	probably damaging	1.00
R9262:Strada	UTSW	11	106,075,444 (GRCm39)	missense	probably damaging	1.00
R9630:Strada	UTSW	11	106,077,781 (GRCm39)	missense	unknown
RF015:Strada	UTSW	11	106,061,846 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCCAGTAACTACAGTATGACAGTGAC -3'
(R):5'- AAAATCTAGGCTGGGGATGC -3'

Sequencing Primer
(F):5'- GTGACTTTAAAAACAGAAATCCCTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2019-10-17