Mutagenetix > Incidental Mutation

Incidental Mutation 'R7509:Strada'

581977

Institutional Source

Beutler Lab

Gene Symbol

Strada

Ensembl Gene

ENSMUSG00000069631

Gene Name

STE20-related kinase adaptor alpha

Synonyms

6030402H20Rik, 2610019A05Rik

MMRRC Submission

045582-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.521) question?

Stock #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106053739-106084460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106077920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 15 (V15F)

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: V15F

SMART Domains

Protein: ENSMUSP00000102480
Gene: ENSMUSG00000069631
AA Change: V15F

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: 98.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	G	7: 119,133,611 (GRCm39)	S259G	probably benign	Het
Adamts16	G	T	13: 70,935,283 (GRCm39)	N436K	probably damaging	Het
Asb3	T	A	11: 30,948,507 (GRCm39)	M61K	probably benign	Het
Catspere2	A	G	1: 177,905,078 (GRCm39)	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,660,602 (GRCm39)	L517P	probably damaging	Het
Cd226	A	G	18: 89,265,195 (GRCm39)	T158A	probably benign	Het
Chd6	A	T	2: 160,855,074 (GRCm39)	I778N	probably damaging	Het
Cnga4	T	C	7: 105,056,097 (GRCm39)	V336A	probably benign	Het
Cpd	C	T	11: 76,688,702 (GRCm39)	V857I	probably benign	Het
Cpm	A	G	10: 117,495,745 (GRCm39)	Y78C	probably damaging	Het
Cst7	A	T	2: 150,419,624 (GRCm39)	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 104,940,046 (GRCm39)	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,289,739 (GRCm39)	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,329,496 (GRCm39)	S685P	probably damaging	Het
Fam110d	A	C	4: 133,979,424 (GRCm39)	V18G	probably damaging	Het
Gcfc2	T	C	6: 81,930,256 (GRCm39)	L641P	probably damaging	Het
Gcnt4	T	A	13: 97,083,678 (GRCm39)	F325I	probably benign	Het
Glg1	T	G	8: 111,985,675 (GRCm39)	S52R	probably benign	Het
Gm10577	G	A	4: 100,877,848 (GRCm39)	L16F	unknown	Het
Gm14326	C	T	2: 177,587,493 (GRCm39)	G501D	probably benign	Het
Gm1587	G	A	14: 78,034,464 (GRCm39)	P35S	unknown	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Helb	T	A	10: 119,925,719 (GRCm39)	H886L	probably damaging	Het
Hgsnat	A	G	8: 26,445,754 (GRCm39)	V380A	probably damaging	Het
Hmbs	T	A	9: 44,248,208 (GRCm39)	R125S		Het
Hsd17b4	A	T	18: 50,297,749 (GRCm39)	Y346F	probably damaging	Het
Inpp4a	T	C	1: 37,426,911 (GRCm39)	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Itga11	C	T	9: 62,689,222 (GRCm39)	T1129I	probably benign	Het
Itih4	G	A	14: 30,617,404 (GRCm39)	V575I	probably benign	Het
Kcnn2	A	G	18: 45,816,187 (GRCm39)	T473A	probably benign	Het
Kidins220	T	C	12: 25,032,360 (GRCm39)	V31A	probably damaging	Het
Lrch1	G	A	14: 75,185,048 (GRCm39)	T18I	probably benign	Het
Ly6e	T	C	15: 74,830,135 (GRCm39)	F30L	probably damaging	Het
Med13l	A	G	5: 118,886,995 (GRCm39)	D1632G	probably damaging	Het
Mei4	T	A	9: 81,907,630 (GRCm39)	L320Q	probably damaging	Het
Mlip	T	G	9: 77,088,678 (GRCm39)	T197P	probably damaging	Het
Mon2	G	A	10: 122,868,457 (GRCm39)	A532V	probably benign	Het
Myh1	C	T	11: 67,101,287 (GRCm39)	P688S	probably benign	Het
Ncapg	G	A	5: 45,853,450 (GRCm39)	D900N	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Ntn4	A	G	10: 93,546,430 (GRCm39)	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,757,082 (GRCm39)	H26Q	probably damaging	Het
Obscn	G	A	11: 58,942,455 (GRCm39)	T4348I	probably benign	Het
Or10d4b	T	A	9: 39,534,623 (GRCm39)	I66N	probably damaging	Het
Or8c20	T	A	9: 38,260,868 (GRCm39)	M157K	probably benign	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,475,074 (GRCm39)	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,910 (GRCm39)	Y454*	probably null	Het
Pigc	A	T	1: 161,798,545 (GRCm39)	T176S	probably benign	Het
Pola2	A	T	19: 6,011,194 (GRCm39)	S43R	probably benign	Het
Pole	A	T	5: 110,478,571 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,880,705 (GRCm39)	D956E	probably benign	Het
Polq	T	A	16: 36,880,706 (GRCm39)	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,504,131 (GRCm39)	T107I	probably damaging	Het
Prss39	C	A	1: 34,539,280 (GRCm39)	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,785,928 (GRCm39)	D256G	probably benign	Het
Rfc3	A	G	5: 151,570,975 (GRCm39)	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,003,981 (GRCm39)	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Suco	A	T	1: 161,672,903 (GRCm39)	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683 (GRCm39)	C1595S	probably benign	Het
Synpo	G	T	18: 60,736,566 (GRCm39)	T460K	probably damaging	Het
Tagap	A	T	17: 8,147,568 (GRCm39)	I93F	probably damaging	Het
Tmtc3	A	T	10: 100,301,956 (GRCm39)	F331Y	probably damaging	Het
Tnpo1	A	C	13: 99,006,751 (GRCm39)	I225M	probably benign	Het
Tollip	A	T	7: 141,445,878 (GRCm39)	M70K	probably benign	Het
Trpm7	A	T	2: 126,691,842 (GRCm39)	I171N	probably damaging	Het
Ttc41	G	T	10: 86,549,296 (GRCm39)	E163D	probably damaging	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,362,382 (GRCm39)	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,231,842 (GRCm39)	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,802,995 (GRCm39)	E302K	probably benign	Het
Vwf	T	C	6: 125,619,132 (GRCm39)	F1270S		Het
Wdr3	A	T	3: 100,058,503 (GRCm39)	F367L	probably benign	Het
Zfp592	A	G	7: 80,688,088 (GRCm39)	S1005G	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
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'- GGCCCAACCCATTTAACATG -3'
(R):5'- AAAATCTAGGCTGGGGATGCTG -3'

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

Posted On

2019-10-17