Mutagenetix > Incidental Mutation

Incidental Mutation 'R4329:Strada'

324538

Institutional Source

Beutler Lab

Gene Symbol

Strada

Ensembl Gene

ENSMUSG00000069631

Gene Name

STE20-related kinase adaptor alpha

Synonyms

6030402H20Rik, 2610019A05Rik

MMRRC Submission

041663-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R4329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106053739-106084460 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 106077999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115555 (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

probably benign
Transcript: ENSMUST00000106867

SMART Domains

Protein: ENSMUSP00000102480
Gene: ENSMUSG00000069631

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122989

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158077

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

96% (68/71)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	A	5: 113,243,455 (GRCm39)		probably null	Het
Adamts15	T	C	9: 30,815,814 (GRCm39)	S681G	probably benign	Het
Ampd2	C	A	3: 107,985,103 (GRCm39)		probably benign	Het
Ang2	A	T	14: 51,433,325 (GRCm39)	I19N	possibly damaging	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
Cacna1s	A	C	1: 136,046,771 (GRCm39)	D1819A	probably benign	Het
Cand2	C	A	6: 115,776,949 (GRCm39)	H1112Q	possibly damaging	Het
Catsperd	T	A	17: 56,961,517 (GRCm39)	I413K	possibly damaging	Het
Ccdc142	T	A	6: 83,083,997 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Celsr3	C	T	9: 108,723,248 (GRCm39)	R2847C	probably benign	Het
Cep290	C	T	10: 100,373,530 (GRCm39)	S1270L	probably damaging	Het
Chka	T	C	19: 3,925,803 (GRCm39)		probably benign	Het
Cntnap5b	T	A	1: 99,999,888 (GRCm39)	D215E	probably damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Cspg4	T	C	9: 56,799,749 (GRCm39)	F1539L	probably damaging	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Dchs1	A	T	7: 105,402,966 (GRCm39)	I3192N	probably damaging	Het
Dnah7c	T	A	1: 46,688,441 (GRCm39)	D1870E	probably benign	Het
Drc1	A	T	5: 30,513,002 (GRCm39)	I359L	probably benign	Het
Esp1	A	G	17: 41,039,768 (GRCm39)	M18V	probably benign	Het
Exoc1	T	A	5: 76,715,822 (GRCm39)	F789L	probably damaging	Het
Fbxw22	T	A	9: 109,213,111 (GRCm39)	T279S	probably damaging	Het
Frem1	G	A	4: 82,904,774 (GRCm39)	A880V	probably benign	Het
Gm29514	A	G	1: 146,296,429 (GRCm39)		noncoding transcript	Het
Grm7	T	C	6: 110,891,325 (GRCm39)	L186P	probably damaging	Het
Ipo8	A	T	6: 148,701,662 (GRCm39)		probably benign	Het
Klk4	A	G	7: 43,533,830 (GRCm39)	D202G	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,861 (GRCm39)	Y808N	probably damaging	Het
Myom1	C	T	17: 71,343,348 (GRCm39)	L182F	probably damaging	Het
Nova1	A	T	12: 46,767,615 (GRCm39)	I102N	unknown	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Patl2	C	T	2: 121,958,018 (GRCm39)	S80N	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pkmyt1	T	A	17: 23,951,709 (GRCm39)	Y88N	probably damaging	Het
Pnkp	T	C	7: 44,508,018 (GRCm39)	S114P	probably benign	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Sema4d	T	C	13: 51,857,340 (GRCm39)	R631G	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Skint9	A	C	4: 112,249,062 (GRCm39)	L122R	probably damaging	Het
Slc16a13	T	C	11: 70,108,723 (GRCm39)	N369S	probably benign	Het
Tnxb	C	A	17: 34,912,838 (GRCm39)	S1784Y	probably damaging	Het
Trpc2	T	C	7: 101,736,727 (GRCm39)	V318A	probably damaging	Het
Ttc3	G	A	16: 94,267,820 (GRCm39)	R1589H	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Unc5b	A	G	10: 60,618,969 (GRCm39)	Y58H	probably damaging	Het
Xylt1	G	A	7: 117,255,684 (GRCm39)	G752D	probably damaging	Het
Yipf7	A	T	5: 69,678,465 (GRCm39)	L55Q	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zfta	A	G	19: 7,398,591 (GRCm39)		probably benign	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
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
R7552:Strada	UTSW	11	106,077,830 (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'- AGAGAACTCTGGGTGTCACATAAAAC -3'
(R):5'- AATCTAGGCTGGGGATGCTG -3'

Sequencing Primer
(F):5'- TCTGGGTGTCACATAAAACAAAAC -3'
(R):5'- CTTTCAGGAGGACAAGGTCATTCTC -3'

Posted On

2015-06-24