Mutagenetix > Incidental Mutation

Incidental Mutation 'R6337:Strada'

513766

Institutional Source

Beutler Lab

Gene Symbol

Strada

Ensembl Gene

ENSMUSG00000069631

Gene Name

STE20-related kinase adaptor alpha

Synonyms

6030402H20Rik, 2610019A05Rik

MMRRC Submission

044491-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.521) question?

Stock #

R6337 (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 106064143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 58 (E58G)

Ref Sequence

ENSEMBL: ENSMUSP00000115555 (fasta)

Gene Model

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

AlphaFold

Q3UUJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007444
AA Change: E95G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631
AA Change: E95G

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

possibly damaging
Transcript: ENSMUST00000103072
AA Change: E58G

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631
AA Change: E58G

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

possibly damaging
Transcript: ENSMUST00000152008
AA Change: E58G

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115555
Gene: ENSMUSG00000069631
AA Change: E58G

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	G	3: 89,969,040 (GRCm39)	V221G	probably benign	Het
Abca12	G	A	1: 71,334,172 (GRCm39)	A1110V	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Acsm5	G	A	7: 119,133,458 (GRCm39)	A208T	probably benign	Het
Adcyap1	T	A	17: 93,509,709 (GRCm39)	Y53*	probably null	Het
Adgrg7	T	A	16: 56,572,788 (GRCm39)	I343F	probably damaging	Het
Agl	T	A	3: 116,580,426 (GRCm39)	K376M	possibly damaging	Het
Akna	A	G	4: 63,292,240 (GRCm39)	Y1142H	probably benign	Het
Anks1b	A	T	10: 90,757,158 (GRCm39)	T182S	probably benign	Het
Apol7e	T	A	15: 77,598,582 (GRCm39)	Y16N	possibly damaging	Het
Bptf	G	T	11: 106,949,605 (GRCm39)	T2238K	possibly damaging	Het
Ccdc87	A	G	19: 4,889,829 (GRCm39)	E107G	probably benign	Het
Ccng2	C	T	5: 93,418,780 (GRCm39)	A135V	probably benign	Het
Chd8	C	A	14: 52,441,566 (GRCm39)	R842L	probably damaging	Het
Cldn18	T	A	9: 99,591,995 (GRCm39)	T3S	probably benign	Het
Dhcr7	T	C	7: 143,390,468 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dusp26	T	C	8: 31,586,325 (GRCm39)	V182A	probably damaging	Het
Eif3e	T	C	15: 43,115,692 (GRCm39)	D358G	possibly damaging	Het
Epha3	A	T	16: 63,388,806 (GRCm39)	L814H	probably damaging	Het
Flnc	A	G	6: 29,454,318 (GRCm39)	N1877S	probably damaging	Het
Fpgs	A	T	2: 32,577,953 (GRCm39)	Y156*	probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5591	T	C	7: 38,221,319 (GRCm39)	D250G	probably benign	Het
Gtf2e2	C	T	8: 34,266,043 (GRCm39)	R240*	probably null	Het
Hells	G	T	19: 38,943,254 (GRCm39)	Q519H	probably benign	Het
Hscb	A	G	5: 110,987,360 (GRCm39)		probably null	Het
Inpp5k	T	A	11: 75,537,640 (GRCm39)	I350N	probably damaging	Het
Irf9	G	A	14: 55,843,799 (GRCm39)	V221I	possibly damaging	Het
Itga8	A	T	2: 12,258,280 (GRCm39)	Y261*	probably null	Het
Itprid2	G	A	2: 79,485,463 (GRCm39)	D506N	probably damaging	Het
Lama1	C	T	17: 68,093,014 (GRCm39)	T1684M	probably benign	Het
Lrp2	A	T	2: 69,268,811 (GRCm39)	H4157Q	probably damaging	Het
Nceh1	G	T	3: 27,276,956 (GRCm39)	R93L	probably damaging	Het
Nell2	A	G	15: 95,283,025 (GRCm39)	F339S	probably damaging	Het
Or2t49	A	T	11: 58,392,838 (GRCm39)	C181*	probably null	Het
Phf11a	C	A	14: 59,521,817 (GRCm39)	C118F	probably damaging	Het
Purg	A	G	8: 33,876,451 (GRCm39)	K30E	possibly damaging	Het
Qprt	C	T	7: 126,708,101 (GRCm39)	R110H	probably damaging	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina3a	T	C	12: 104,079,137 (GRCm39)	F10L	probably benign	Het
Sidt1	A	T	16: 44,121,298 (GRCm39)		probably null	Het
Slc4a4	T	A	5: 89,194,231 (GRCm39)	M237K	probably benign	Het
Slitrk5	A	T	14: 111,917,684 (GRCm39)	D436V	probably damaging	Het
Snd1	T	C	6: 28,888,288 (GRCm39)	Y908H	probably damaging	Het
Sorcs1	A	G	19: 50,132,562 (GRCm39)	V1132A	probably benign	Het
Speer3	A	G	5: 13,843,369 (GRCm39)	E92G	probably damaging	Het
Tbx10	A	T	19: 4,047,312 (GRCm39)	K139*	probably null	Het
Tcf4	T	C	18: 69,766,651 (GRCm39)	Y25H	probably damaging	Het
Tmem108	C	T	9: 103,376,960 (GRCm39)	R163H	possibly damaging	Het
Top2b	A	G	14: 16,399,026 (GRCm38)	T549A	possibly damaging	Het
Tpcn2	A	G	7: 144,833,080 (GRCm39)	I46T	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vipr2	T	A	12: 116,086,363 (GRCm39)	Y129*	probably null	Het
Vps37a	A	T	8: 40,993,749 (GRCm39)	Q248L	probably benign	Het
Wrap53	T	C	11: 69,468,511 (GRCm39)	I179V	probably benign	Het
Zan	G	A	5: 137,450,750 (GRCm39)	A1609V	unknown	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb5	G	A	4: 44,993,459 (GRCm39)	R642W	probably damaging	Het
Zfyve27	A	G	19: 42,171,096 (GRCm39)		probably null	Het
Zup1	T	C	10: 33,825,252 (GRCm39)	N77D	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
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
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'- CTTAGTCTCCTGCAGAAACCCC -3'
(R):5'- TGCTACAGTGATTGTCTGAGAAGG -3'

Sequencing Primer
(F):5'- CCCCTAGAAGAATGACCATGTGG -3'
(R):5'- CTAATATGAAAGTTCCAGCAGTGAGC -3'

Posted On

2018-04-27