Mutagenetix > Incidental Mutation

Incidental Mutation 'R4678:Strn'

349811

Institutional Source

Beutler Lab

Gene Symbol

Strn

Ensembl Gene

ENSMUSG00000024077

Gene Name

striatin, calmodulin binding protein

Synonyms

MMRRC Submission

041931-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.565) question?

Stock #

R4678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78957327-79043990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78984780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 288 (F288V)

Ref Sequence

ENSEMBL: ENSMUSP00000120830 (fasta)

Gene Model

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

AlphaFold

O55106

Predicted Effect

probably damaging
Transcript: ENSMUST00000024881
AA Change: F135V

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

SMART Domains

Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: F135V

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

unknown
Transcript: ENSMUST00000145480
AA Change: F109V

SMART Domains

Protein: ENSMUSP00000117663
Gene: ENSMUSG00000024077
AA Change: F109V

Domain	Start	End	E-Value	Type
low complexity region	60	76	N/A	INTRINSIC
low complexity region	153	171	N/A	INTRINSIC
low complexity region	227	235	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000145910
AA Change: F288V

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

SMART Domains

Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: F288V

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 88,860,873 (GRCm39)		probably benign	Het
Abcc4	A	G	14: 118,865,103 (GRCm39)	S308P	probably damaging	Het
Agr3	G	T	12: 35,997,832 (GRCm39)	V115L	probably damaging	Het
Ahr	A	T	12: 35,557,463 (GRCm39)	I319N	probably damaging	Het
Alpk1	A	T	3: 127,473,507 (GRCm39)	V832D	probably damaging	Het
Ano1	T	C	7: 144,223,289 (GRCm39)	T78A	probably benign	Het
Apob	G	A	12: 8,045,585 (GRCm39)	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,212,891 (GRCm39)	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,374,226 (GRCm39)	G217W	probably benign	Het
Arhgef4	A	G	1: 34,761,749 (GRCm39)	E335G	unknown	Het
Calcoco2	T	C	11: 95,994,374 (GRCm39)	T60A	probably damaging	Het
Catsperg1	A	T	7: 28,889,721 (GRCm39)	S741T	probably benign	Het
Ccdc181	T	G	1: 164,105,846 (GRCm39)	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,459,334 (GRCm39)	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,318 (GRCm39)		probably null	Het
Cercam	T	A	2: 29,759,689 (GRCm39)	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,751,685 (GRCm39)	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,180,981 (GRCm39)	V738A	probably damaging	Het
Coq8a	T	C	1: 179,997,646 (GRCm39)	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,307,538 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,623,071 (GRCm39)	I471V	probably benign	Het
Ddx21	G	T	10: 62,429,782 (GRCm39)	Q321K	probably benign	Het
Dhx8	T	C	11: 101,630,634 (GRCm39)	V347A	probably damaging	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Homo
Dlg2	A	G	7: 92,077,788 (GRCm39)	I685V	possibly damaging	Het
Dusp11	A	C	6: 85,930,363 (GRCm39)	N140K	probably damaging	Het
Ece2	A	G	16: 20,459,468 (GRCm39)	K454R	probably damaging	Het
Eno4	T	A	19: 58,935,181 (GRCm39)	V131E	probably damaging	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Etv1	T	C	12: 38,885,219 (GRCm39)	Y236H	probably damaging	Het
F2rl2	A	G	13: 95,837,140 (GRCm39)	T62A	probably benign	Het
Fbxl21	T	C	13: 56,684,862 (GRCm39)	V296A	probably damaging	Het
Fig4	T	C	10: 41,148,994 (GRCm39)	I153V	probably benign	Het
Fis1	T	A	5: 136,991,951 (GRCm39)	N41K	possibly damaging	Het
Fras1	T	A	5: 96,848,427 (GRCm39)	M1814K	probably benign	Het
Frem2	T	A	3: 53,451,792 (GRCm39)	I2266F	probably benign	Het
Gm10330	A	T	12: 23,829,843 (GRCm39)	*113R	probably null	Het
Gm12185	T	A	11: 48,806,367 (GRCm39)	I275F	probably benign	Het
Gsdme	A	T	6: 50,206,304 (GRCm39)	C180S	possibly damaging	Het
Herc1	A	G	9: 66,323,551 (GRCm39)	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,869,185 (GRCm39)	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,604,896 (GRCm39)	L74P	probably damaging	Het
Ift46	C	A	9: 44,695,260 (GRCm39)	Y85*	probably null	Het
Insyn2b	T	G	11: 34,353,227 (GRCm39)	L423R	probably damaging	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Isg20	C	T	7: 78,564,076 (GRCm39)		probably benign	Het
Itga11	T	A	9: 62,642,639 (GRCm39)	N187K	probably damaging	Het
Klhl9	G	A	4: 88,639,161 (GRCm39)	T360I	probably damaging	Het
Krt39	T	A	11: 99,411,826 (GRCm39)	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,681,734 (GRCm39)	S74F	unknown	Het
Lgi1	G	A	19: 38,289,737 (GRCm39)	V268I	probably damaging	Het
Lrrc46	G	A	11: 96,925,719 (GRCm39)	P248S	probably benign	Het
Lrrn4	C	T	2: 132,721,488 (GRCm39)	V110I	probably benign	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Micu3	T	A	8: 40,833,718 (GRCm39)	F451I	probably damaging	Het
Mid1	C	A	X: 168,768,044 (GRCm39)	D130E	possibly damaging	Het
Mkks	T	C	2: 136,722,201 (GRCm39)	T319A	probably benign	Het
Mob3c	A	G	4: 115,690,968 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,230,554 (GRCm39)	E1192G	probably benign	Het
Ndc80	A	G	17: 71,827,753 (GRCm39)		probably null	Het
Nfx1	A	G	4: 41,012,070 (GRCm39)	K807E	probably benign	Het
Nrxn1	A	T	17: 90,930,850 (GRCm39)	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,418,407 (GRCm39)	S46G	probably benign	Het
Nup98	A	T	7: 101,834,038 (GRCm39)	L308H	probably damaging	Het
Or4c115	C	A	2: 88,927,860 (GRCm39)	W137L	probably benign	Het
Or52j3	T	C	7: 102,836,098 (GRCm39)	F97L	probably damaging	Het
Or6f2	T	C	7: 139,756,141 (GRCm39)	V36A	probably benign	Het
Or8k32	T	C	2: 86,369,077 (GRCm39)	M61V	possibly damaging	Het
Palb2	T	C	7: 121,726,589 (GRCm39)	K427R	probably damaging	Het
Pcdha1	C	A	18: 37,063,965 (GRCm39)	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,429,260 (GRCm39)	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Plekhg4	T	A	8: 106,107,003 (GRCm39)	Y899*	probably null	Het
Plxnb2	G	T	15: 89,045,131 (GRCm39)	T1105K	probably benign	Het
Psmd2	T	C	16: 20,478,719 (GRCm39)	V606A	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,760,808 (GRCm39)	K45E	probably damaging	Het
Rrn3	T	A	16: 13,613,940 (GRCm39)	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtn2	C	A	7: 19,027,820 (GRCm39)	N403K	probably damaging	Het
Rusc1	A	G	3: 88,997,027 (GRCm39)	W462R	probably damaging	Het
Sdc3	T	A	4: 130,545,907 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc12a2	T	A	18: 58,039,032 (GRCm39)	C537*	probably null	Het
Slc4a2	G	A	5: 24,639,238 (GRCm39)		probably null	Het
Spsb4	T	A	9: 96,877,744 (GRCm39)	D193V	probably damaging	Het
Stx18	G	A	5: 38,293,712 (GRCm39)		probably benign	Het
Tfcp2l1	T	A	1: 118,596,378 (GRCm39)	M371K	probably benign	Het
Thnsl1	A	G	2: 21,216,352 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,439 (GRCm39)	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 155,940,780 (GRCm39)	I362K	probably damaging	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Trpm8	T	C	1: 88,264,851 (GRCm39)	V320A	probably benign	Het
Ubr3	A	T	2: 69,766,263 (GRCm39)	H377L	probably damaging	Het
Usp8	A	G	2: 126,567,349 (GRCm39)	R123G	probably null	Het
Vim	T	A	2: 13,579,775 (GRCm39)	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 21,110,489 (GRCm39)	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,055,697 (GRCm39)	M120T	possibly damaging	Het
Vwce	G	T	19: 10,642,012 (GRCm39)	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,275,285 (GRCm39)	T215K	probably benign	Het
Zeb2	A	T	2: 44,886,353 (GRCm39)	D857E	probably damaging	Het
Zfp106	G	A	2: 120,364,221 (GRCm39)	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,229,437 (GRCm39)	A363S	probably benign	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
R3695: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
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'- CGGAGGTGTGACATTTCAGAACC -3'
(R):5'- AACACAATGTGTCTGGCTGAG -3'

Sequencing Primer
(F):5'- TTCAGAACCAAGTGTTTCCCAG -3'
(R):5'- ACACAATGTGTCTGGCTGAGTTAGG -3'

Posted On

2015-10-08