Mutagenetix > Incidental Mutation

Incidental Mutation 'RF047:Strn'

605059

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 #

RF047 (G1)

Quality Score

211.468

Status

Not validated

Chromosome

Chromosomal Location

78957327-79043990 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GTGCTCCCTTACCCCAGTC to GTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCTTGCTCCCTTACCCCAGTC at 78984699 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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	AAGA	AA	5: 8,946,595 (GRCm39)		probably null	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,970 (GRCm39)		probably benign	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,976 (GRCm39)		probably benign	Het
Cd109	TTATTTAT	TTATTTATTTCTGTATTTAT	9: 78,619,809 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,973,818 (GRCm39)	G2832V	probably damaging	Het
Dnmt1	GAGCACAGTTCCTACCTCGTT	GAGCACAGTTCCTACCTCGTTTTGGGGGCGTAGCACAGTTCCTACCTCGTT	9: 20,821,421 (GRCm39)		probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,599 (GRCm39)		probably benign	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 71,313,659 (GRCm39)		probably benign	Het
Gabre	C	CTGGCTA	X: 71,314,371 (GRCm39)		probably null	Het
Garin5a	GAGGGAGGA	GAGGGAGGAAGGCTGGATCCTGGATACCTGGGTCTTAGGGAGGA	7: 44,149,953 (GRCm39)		probably null	Het
Garin5a	G	GCAGGGTGGATCCTGGATACCTGGGTCTGCGGGAGT	7: 44,149,960 (GRCm39)		probably null	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)		probably null	Het
Iqcf4	CCTTTTCC	CCTTTTCCGTTTCCTTTTCCTTTTCCTTTGCCTTTTGCTTTTCC	9: 106,447,811 (GRCm39)		probably benign	Het
Kmt2c	TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,520,758 (GRCm39)		probably benign	Het
Mamld1	GCA	GCAACA	X: 70,162,445 (GRCm39)		probably benign	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Nefh	GCCTCACCTGGGGACTTG	GCCTCACCTGGGGACTTGTCCTCACCTGGGGACTTG	11: 4,891,038 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,700,869 (GRCm39)	C605Y	probably damaging	Het
Pnma8a	TACCTCATGATGCACCTGCTTCAACA	TACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA	7: 16,695,348 (GRCm39)		probably benign	Het
Rasa2	CGC	CGCAGC	9: 96,513,520 (GRCm39)		probably benign	Het
Rbm33	AGCAGCA	AGCAGCACCAGCCGCAGCA	5: 28,599,160 (GRCm39)		probably benign	Het
Smarca2	CAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCA	19: 26,608,405 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,031 (GRCm39)		probably benign	Het
Tfeb	C	CAGA	17: 48,097,041 (GRCm39)		probably benign	Het
Tomm5	CATCTTCCG	CATCTTCCGAATCTTCCG	4: 45,107,974 (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
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'- CCTTACACATTAGAGGAGGAGGC -3'
(R):5'- ACACAATGTGTCTGGCTGAG -3'

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

Posted On

2019-12-04