Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03008:Strada'

407641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Strada

Ensembl Gene

ENSMUSG00000069631

Gene Name

STE20-related kinase adaptor alpha

Synonyms

6030402H20Rik, 2610019A05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

106053739-106084460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106061783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 156 (H156R)

Ref Sequence

ENSEMBL: ENSMUSP00000115555 (fasta)

Gene Model

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

AlphaFold

Q3UUJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000007444
AA Change: H193R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631
AA Change: H193R

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 damaging
Transcript: ENSMUST00000103072
AA Change: H156R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631
AA Change: H156R

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

noncoding transcript
Transcript: ENSMUST00000122989

Predicted Effect

probably damaging
Transcript: ENSMUST00000152008
AA Change: H156R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115555
Gene: ENSMUSG00000069631
AA Change: H156R

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

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,612,337 (GRCm39)	M1I	probably null	Het
Ankrd44	T	C	1: 54,805,968 (GRCm39)	H146R	probably damaging	Het
Bst1	A	G	5: 43,983,604 (GRCm39)		probably null	Het
Btbd8	T	G	5: 107,639,464 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,480,416 (GRCm39)	I211F	probably damaging	Het
Cenpj	G	T	14: 56,764,406 (GRCm39)	D1335E	probably benign	Het
Clpx	G	A	9: 65,230,057 (GRCm39)	V502I	possibly damaging	Het
Cntnap4	T	C	8: 113,500,222 (GRCm39)	S505P	probably benign	Het
Cog2	T	C	8: 125,262,131 (GRCm39)		probably benign	Het
Cped1	A	G	6: 22,233,601 (GRCm39)	Q819R	probably benign	Het
Cspg4	A	G	9: 56,805,759 (GRCm39)	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,679,368 (GRCm39)	R359Q	probably damaging	Het
Cul9	A	G	17: 46,813,623 (GRCm39)		probably benign	Het
Dab1	G	T	4: 104,584,777 (GRCm39)	V306F	probably damaging	Het
Dysf	A	G	6: 84,050,876 (GRCm39)	I438V	probably benign	Het
Eif4g3	G	T	4: 137,847,699 (GRCm39)	G380W	probably damaging	Het
Exd1	T	A	2: 119,350,862 (GRCm39)	K466N	probably benign	Het
Eya3	A	C	4: 132,434,294 (GRCm39)	D325A	probably damaging	Het
Fmn1	A	G	2: 113,195,445 (GRCm39)	T382A	unknown	Het
Fry	T	A	5: 150,269,021 (GRCm39)	D106E	possibly damaging	Het
Gm21957	T	A	7: 124,818,733 (GRCm39)		noncoding transcript	Het
Gm44511	A	G	6: 128,761,059 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,155,982 (GRCm39)	I983V	probably benign	Het
Lrpprc	A	T	17: 85,058,675 (GRCm39)	D5E	probably benign	Het
Lrrc37	T	C	11: 103,511,293 (GRCm39)	E225G	unknown	Het
Ltbp4	G	T	7: 27,023,789 (GRCm39)	N747K	probably damaging	Het
Minar1	A	G	9: 89,478,731 (GRCm39)	Y772H	probably damaging	Het
Mlh3	T	C	12: 85,287,625 (GRCm39)	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,229,185 (GRCm39)	C63S	possibly damaging	Het
Myh11	T	A	16: 14,022,617 (GRCm39)	M1661L	probably benign	Het
Myo1c	T	C	11: 75,549,240 (GRCm39)	M137T	probably benign	Het
Myocd	A	C	11: 65,078,392 (GRCm39)	L340V	probably damaging	Het
Napsa	A	T	7: 44,235,220 (GRCm39)	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,448,516 (GRCm39)	Q240K	probably benign	Het
Npepps	A	C	11: 97,128,984 (GRCm39)	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,304,738 (GRCm39)	E275V	probably benign	Het
Ofd1	T	C	X: 165,192,530 (GRCm39)	D501G	probably benign	Het
Or13a19	T	C	7: 139,903,445 (GRCm39)	Y278H	probably damaging	Het
Or4f6	A	G	2: 111,838,868 (GRCm39)	I221T	possibly damaging	Het
Or5p79	T	G	7: 108,221,490 (GRCm39)	L157R	probably damaging	Het
Or8k41	A	T	2: 86,313,678 (GRCm39)	M136K	probably damaging	Het
P2ry1	A	T	3: 60,910,947 (GRCm39)	T29S	probably benign	Het
Papss1	T	C	3: 131,290,860 (GRCm39)	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,957,764 (GRCm39)	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,887 (GRCm39)	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,694,023 (GRCm39)	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,544,690 (GRCm39)	I27T	probably damaging	Het
Rnf10	G	T	5: 115,389,355 (GRCm39)	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,392,855 (GRCm39)	S246P	probably damaging	Het
Sertad2	G	T	11: 20,597,798 (GRCm39)		probably benign	Het
Slc22a27	A	G	19: 7,887,067 (GRCm39)	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,782,058 (GRCm39)	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,748,138 (GRCm39)	F225I	probably benign	Het
Slc6a3	G	A	13: 73,706,404 (GRCm39)		probably null	Het
Smcr8	A	G	11: 60,669,287 (GRCm39)	E145G	probably damaging	Het
Spen	A	T	4: 141,203,448 (GRCm39)	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stag1	A	T	9: 100,658,844 (GRCm39)	N144Y	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r138	A	C	6: 40,590,116 (GRCm39)	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,733,642 (GRCm39)	K106*	probably null	Het
Trbv13-1	A	G	6: 41,093,229 (GRCm39)	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,165,932 (GRCm39)	V218A	probably benign	Het
Ttn	G	A	2: 76,611,203 (GRCm39)	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,560,282 (GRCm39)	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,477,908 (GRCm39)	M168V	probably benign	Het
Wdr11	T	C	7: 129,208,715 (GRCm39)		probably benign	Het
Wipf2	T	C	11: 98,783,554 (GRCm39)		probably benign	Het
Zranb2	T	A	3: 157,252,302 (GRCm39)		probably null	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
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
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

Posted On

2016-08-02