Mutagenetix > Incidental Mutation

Incidental Mutation 'RF048:Strn'

605087

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 #

RF048 (G1)

Quality Score

200.468

Status

Not validated

Chromosome

Chromosomal Location

78957327-79043990 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TC to TCCGTGCTCCCTTACCCCAGTGCGTGCGCCCTTACCCCAGAC at 78984716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120830 (fasta)

Gene Model

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

AlphaFold

O55106

Predicted Effect

probably null
Transcript: ENSMUST00000024881

SMART Domains

Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077

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 null
Transcript: ENSMUST00000145480

SMART Domains

Protein: ENSMUSP00000117663
Gene: ENSMUSG00000024077

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 null
Transcript: ENSMUST00000145910

SMART Domains

Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	GAGCTGA	G	4: 63,296,078 (GRCm39)		probably benign	Het
Celf4	G	T	18: 25,634,378 (GRCm39)	P326T	probably benign	Het
Chga	GCA	GCACCA	12: 102,527,662 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,680 (GRCm39)		probably benign	Het
Cntnap1	TTT	TTTTGTT	11: 101,071,131 (GRCm39)		probably benign	Het
Cntnap1	AACCCC	AACCCCCACCCC	11: 101,080,389 (GRCm39)		probably benign	Het
Dnaaf9	CATC	CATCATC	2: 130,612,654 (GRCm39)		probably null	Het
Dnmt1	AGCACAGTTCCTACCTCGTT	AGCACAGTTCCTACCTCGTTTTGGGGGCGGGGCACAGTTCCTACCTCGTT	9: 20,821,422 (GRCm39)		probably null	Het
Gar1	CGCCGCCG	C	3: 129,624,349 (GRCm39)		probably null	Het
Gm15155	AA	AACAACAAA	X: 155,128,637 (GRCm39)		probably null	Het
Irag2	GCACATTG	GCACATTGAACACATTG	6: 145,119,510 (GRCm39)		probably benign	Het
Mamld1	CA	CAGTA	X: 70,162,458 (GRCm39)		probably null	Het
Ncoa6	CTGTTG	CTG	2: 155,263,632 (GRCm39)		probably benign	Het
Nefh	CCTCAGCTGG	CCTCAGCTGGAGACTTGGGCTCAGCTGG	11: 4,891,003 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGAC	AGCTGGGGACCTGGCCTCAGCTGGGGAC	11: 4,891,007 (GRCm39)		probably benign	Het
Nphs2	GCCACC	GCCACCCGAGGGGAGCCCCGAGCTCCAGCCTCCACC	1: 156,138,541 (GRCm39)		probably benign	Het
Nup155	T	TTTTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Nusap1	AGCAAGCTGAGA	AGCAAGCTGAGATACACGTTAGCATTGAGGCGCAAGCTGAGA	2: 119,458,080 (GRCm39)		probably benign	Het
Pdik1l	TGTTTT	TGTTTTGTTTTGGTTTT	4: 134,006,683 (GRCm39)		probably null	Het
Polr1has	CCACCACCACCAC	CCACCACCACCACCCCCACCCACACCACCACCAC	17: 37,275,951 (GRCm39)		probably benign	Het
Rnf144a	CTCTCTC	CTCTCTCTCTCTCTATCTCTC	12: 26,364,010 (GRCm39)		probably benign	Het
Sbp	G	GCTGACAACAAAGATT	17: 24,164,363 (GRCm39)		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
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
X0022:Strn	UTSW	17	79,008,378 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTACACAGCTTCCTTATGGC -3'
(R):5'- CACAATGTGTCTGGCTGAGTTAG -3'

Sequencing Primer
(F):5'- CTCTCGCCCAGCCTAGACAG -3'
(R):5'- GCCAACACTTAAGTTCTTTAAAAACG -3'

Posted On

2019-12-04