Mutagenetix > Incidental Mutation

Incidental Mutation 'R3695:Strn'

268959

Institutional Source

Beutler Lab

Gene Symbol

Strn

Ensembl Gene

ENSMUSG00000024077

Gene Name

striatin, calmodulin binding protein

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.565) question?

Stock #

R3695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78957327-79043990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78964421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 515 (N515D)

Ref Sequence

ENSEMBL: ENSMUSP00000024881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024881] [ENSMUST00000145910]

AlphaFold

O55106

Predicted Effect

probably damaging
Transcript: ENSMUST00000024881
AA Change: N515D

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

SMART Domains

Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: N515D

Domain	Start	End	E-Value	Type
low complexity region	85	101	N/A	INTRINSIC
low complexity region	178	195	N/A	INTRINSIC
low complexity region	223	231	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
WD40	299	338	6.04e-8	SMART
WD40	352	391	2.42e-7	SMART
WD40	405	444	1.21e-7	SMART
WD40	493	539	1.28e1	SMART
WD40	542	581	4.4e-10	SMART
WD40	584	627	2.48e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000145910
AA Change: N668D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: N668D

Domain	Start	End	E-Value	Type
low complexity region	17	45	N/A	INTRINSIC
Pfam:Striatin	48	177	4.2e-50	PFAM
low complexity region	238	254	N/A	INTRINSIC
low complexity region	331	348	N/A	INTRINSIC
low complexity region	376	384	N/A	INTRINSIC
low complexity region	412	429	N/A	INTRINSIC
WD40	452	491	6.04e-8	SMART
WD40	505	544	2.42e-7	SMART
WD40	558	597	1.21e-7	SMART
WD40	646	692	1.28e1	SMART
WD40	695	734	4.4e-10	SMART
WD40	737	780	2.48e-4	SMART

Meta Mutation Damage Score

0.6009

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice heterozygous for a knock-out allele exhibit increased blood pressure and circulating aldosterone when fed a liberal salt diet. No mice could be generated that were homozygous for the allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010106E10Rik	A	T	X: 111,466,012 (GRCm39)	L187F	probably damaging	Het
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atxn7l1	A	G	12: 33,408,696 (GRCm39)	N286S	probably damaging	Het
B430306N03Rik	C	T	17: 48,626,194 (GRCm39)	T129I	possibly damaging	Het
Cabp2	A	G	19: 4,133,593 (GRCm39)	T12A	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dmrta1	T	A	4: 89,580,415 (GRCm39)	Y458*	probably null	Het
Gabrr2	A	G	4: 33,071,430 (GRCm39)	D65G	probably damaging	Het
Grin3a	G	T	4: 49,792,704 (GRCm39)	T343K	possibly damaging	Het
Hsp90ab1	T	C	17: 45,882,403 (GRCm39)	D97G	probably damaging	Het
Mageb4	G	T	X: 85,296,000 (GRCm39)	R10S	probably damaging	Het
Mdm4	A	G	1: 132,919,731 (GRCm39)	L379S	probably benign	Het
Or8j3c	T	C	2: 86,253,987 (GRCm39)	E11G	probably damaging	Het
Or8k40	A	T	2: 86,584,215 (GRCm39)	I289N	probably damaging	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Pkd2l2	A	G	18: 34,571,843 (GRCm39)	N614S	possibly damaging	Het
Ppp2r2a	C	A	14: 67,257,199 (GRCm39)	D344Y	probably damaging	Het
Rbm4	A	G	19: 4,837,411 (GRCm39)	Y358H	probably damaging	Het
Skic2	A	G	17: 35,066,888 (GRCm39)	F154S	probably damaging	Het
St3gal2	A	G	8: 111,688,973 (GRCm39)	D171G	probably damaging	Het
Stxbp5l	A	T	16: 37,061,708 (GRCm39)	Y367*	probably null	Het
Syk	A	G	13: 52,776,801 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,604,949 (GRCm39)		probably null	Het
Tlr5	A	T	1: 182,802,912 (GRCm39)	R739W	probably damaging	Het
Tns2	G	T	15: 102,021,184 (GRCm39)	V942L	probably null	Het
Tsnaxip1	A	G	8: 106,560,167 (GRCm39)	T40A	possibly damaging	Het
Tub	A	G	7: 108,627,039 (GRCm39)	S313G	probably benign	Het
Vmn2r77	A	G	7: 86,450,044 (GRCm39)	N97D	probably damaging	Het
Wscd2	T	A	5: 113,689,078 (GRCm39)	I28N	possibly damaging	Het

Other mutations in Strn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Strn	APN	17	78,999,849 (GRCm39)	missense	possibly damaging	0.89
IGL02165:Strn	APN	17	78,995,049 (GRCm39)	missense	probably damaging	1.00
IGL02424:Strn	APN	17	78,991,780 (GRCm39)	missense	probably damaging	1.00
IGL02473:Strn	APN	17	78,991,722 (GRCm39)	missense	possibly damaging	0.71
IGL03306:Strn	APN	17	78,974,652 (GRCm39)	missense	probably damaging	0.98
R0053:Strn	UTSW	17	78,964,363 (GRCm39)	missense	possibly damaging	0.92
R0053:Strn	UTSW	17	78,964,363 (GRCm39)	missense	possibly damaging	0.92
R0165:Strn	UTSW	17	78,984,803 (GRCm39)	missense	possibly damaging	0.89
R1156:Strn	UTSW	17	78,964,360 (GRCm39)	missense	probably damaging	0.99
R1191:Strn	UTSW	17	78,999,855 (GRCm39)	missense	possibly damaging	0.82
R1256:Strn	UTSW	17	78,972,046 (GRCm39)	critical splice donor site	probably null
R1700:Strn	UTSW	17	78,999,831 (GRCm39)	missense	probably damaging	1.00
R1878:Strn	UTSW	17	78,984,755 (GRCm39)	missense	possibly damaging	0.81
R1897:Strn	UTSW	17	78,990,271 (GRCm39)	missense	probably benign	0.01
R1912:Strn	UTSW	17	78,991,824 (GRCm39)	missense	probably damaging	1.00
R1975:Strn	UTSW	17	78,999,928 (GRCm39)	splice site	probably null
R2357:Strn	UTSW	17	78,963,028 (GRCm39)	missense	probably damaging	1.00
R3054:Strn	UTSW	17	78,990,321 (GRCm39)	missense	probably damaging	0.99
R3693:Strn	UTSW	17	78,964,421 (GRCm39)	missense	probably damaging	1.00
R3694:Strn	UTSW	17	78,964,421 (GRCm39)	missense	probably damaging	1.00
R3941:Strn	UTSW	17	78,965,369 (GRCm39)	missense	probably damaging	0.99
R4431:Strn	UTSW	17	79,043,891 (GRCm39)	missense	probably damaging	1.00
R4570:Strn	UTSW	17	78,984,801 (GRCm39)	missense	possibly damaging	0.95
R4678:Strn	UTSW	17	78,984,780 (GRCm39)	missense	probably damaging	1.00
R4729:Strn	UTSW	17	78,965,390 (GRCm39)	missense	probably damaging	0.98
R4947:Strn	UTSW	17	78,969,208 (GRCm39)	missense	probably damaging	0.98
R5470:Strn	UTSW	17	78,964,374 (GRCm39)	missense	probably benign	0.01
R5710:Strn	UTSW	17	78,995,028 (GRCm39)	missense	probably damaging	1.00
R5943:Strn	UTSW	17	78,977,276 (GRCm39)	missense	probably damaging	0.96
R6173:Strn	UTSW	17	79,008,298 (GRCm39)	missense	probably damaging	1.00
R6800:Strn	UTSW	17	78,977,787 (GRCm39)	intron	probably benign
R6846:Strn	UTSW	17	79,043,886 (GRCm39)	missense	probably damaging	0.97
R7716:Strn	UTSW	17	78,963,204 (GRCm39)	missense	probably damaging	0.99
R7746:Strn	UTSW	17	78,984,801 (GRCm39)	missense	probably benign	0.11
R7950:Strn	UTSW	17	78,977,852 (GRCm39)	missense
R7997:Strn	UTSW	17	78,991,672 (GRCm39)	missense	probably benign	0.01
R8344:Strn	UTSW	17	78,980,076 (GRCm39)	missense	probably damaging	1.00
R9074:Strn	UTSW	17	79,043,790 (GRCm39)	missense	probably benign	0.00
R9523:Strn	UTSW	17	78,967,575 (GRCm39)	missense	probably benign	0.17
R9538:Strn	UTSW	17	78,972,219 (GRCm39)	missense	possibly damaging	0.68
RF006:Strn	UTSW	17	78,984,700 (GRCm39)	frame shift	probably null
RF008:Strn	UTSW	17	78,984,716 (GRCm39)	frame shift	probably null
RF017:Strn	UTSW	17	78,984,717 (GRCm39)	frame shift	probably null
RF018:Strn	UTSW	17	78,984,712 (GRCm39)	frame shift	probably null
RF031:Strn	UTSW	17	78,984,706 (GRCm39)	frame shift	probably null
RF035:Strn	UTSW	17	78,984,714 (GRCm39)	frame shift	probably null
RF036:Strn	UTSW	17	78,984,706 (GRCm39)	frame shift	probably null
RF038:Strn	UTSW	17	78,984,711 (GRCm39)	frame shift	probably null
RF039:Strn	UTSW	17	78,984,707 (GRCm39)	frame shift	probably null
RF044:Strn	UTSW	17	78,984,717 (GRCm39)	frame shift	probably null
RF045:Strn	UTSW	17	78,984,711 (GRCm39)	frame shift	probably null
RF047:Strn	UTSW	17	78,984,703 (GRCm39)	frame shift	probably null
RF047:Strn	UTSW	17	78,984,699 (GRCm39)	frame shift	probably null
RF048:Strn	UTSW	17	78,984,716 (GRCm39)	frame shift	probably null
X0022:Strn	UTSW	17	79,008,378 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCCATGACTACTCCGTG -3'
(R):5'- TCGTGGTTTAGCTCAGGTAAC -3'

Sequencing Primer
(F):5'- ATGACTACTCCGTGACCGTG -3'
(R):5'- ACTGCAGCCAGACTAAAG -3'

Posted On

2015-02-19