Mutagenetix > Incidental Mutation

Incidental Mutation 'RF045:Strn'

605009

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 #

RF045 (G1)

Quality Score

198.468

Status

Not validated

Chromosome

Chromosomal Location

78957327-79043990 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCCAGTC to CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC at 78984711 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: 99.4%
20x: 98.7%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)		probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 5,045,858 (GRCm39)		probably benign	Het
Cdsn	CAGC	CAGCAGCTCTCAGTCAGGAAGTAGC	17: 35,865,865 (GRCm39)		probably benign	Het
Cyb5r4	ATGT	ATGTGAGACACACTGCCCAGGGATGTGT	9: 86,922,455 (GRCm39)		probably null	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGAA	9: 86,922,500 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,289,690 (GRCm39)	H186Y	probably benign	Het
Dbr1	AAGAGGA	AAGAGGAAGAGGA	9: 99,465,724 (GRCm39)		probably benign	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Dnmt1	TACCTCGTT	TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT	9: 20,821,433 (GRCm39)		probably benign	Het
Ecrg4	TTCTGTA	T	1: 43,776,352 (GRCm39)		probably benign	Het
Gabre	CCGGCT	CCGGCTGCGGCT	X: 71,313,651 (GRCm39)		probably benign	Het
Gabre	CTCAGGCT	C	X: 71,313,787 (GRCm39)		probably null	Het
Garin5a	GGAGGA	GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA	7: 44,149,956 (GRCm39)		probably null	Het
Iqcf4	TTCCTTTTCCTTTT	TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT	9: 106,447,809 (GRCm39)		probably benign	Het
Kcnq3	CCGCCAGCCGC	CC	15: 66,158,033 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGTCACAG	1: 83,019,864 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACCACAGCCACAGCCACCACAGC	CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,982 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,599 (GRCm39)		probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCC	CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC	2: 121,136,774 (GRCm39)		probably benign	Het
Ncapd2	ACT	ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT	6: 125,156,199 (GRCm39)		probably null	Het
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Ntn4	G	T	10: 93,546,487 (GRCm39)	R380L	possibly damaging	Het
Nusap1	A	ATACACGTTAGCAGTGAGGAGCAAGCTGAGG	2: 119,458,091 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,700,869 (GRCm39)	C605Y	probably damaging	Het
Ptms	CTCCTC	CTCCTCCTC	6: 124,891,413 (GRCm39)		probably benign	Het
Snx1	CTGTT	CTGTTGTT	9: 66,012,204 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,635,087 (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
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'- ACACAGCTTCCTTATGGCTC -3'
(R):5'- GAACACAATGTGTCTGGCTGAG -3'

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

Posted On

2019-12-04