Mutagenetix > Incidental Mutations

Incidental Mutation 'R1562:Strn3'

170699

Institutional Source

Beutler Lab

Gene Symbol

Strn3

Ensembl Gene

ENSMUSG00000020954

Gene Name

striatin, calmodulin binding protein 3

Synonyms

SG2NA

MMRRC Submission

039601-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1562 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51609632-51691897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51633618 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 400 (T400A)

Ref Sequence

ENSEMBL: ENSMUSP00000013130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013130] [ENSMUST00000169503]

Predicted Effect

probably benign
Transcript: ENSMUST00000013130
AA Change: T400A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: T400A

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
low complexity region	31	55	N/A	INTRINSIC
Pfam:Striatin	64	194	1.3e-50	PFAM
low complexity region	252	263	N/A	INTRINSIC
low complexity region	349	367	N/A	INTRINSIC
low complexity region	429	446	N/A	INTRINSIC
WD40	468	507	7.05e-9	SMART
WD40	521	560	2.42e-7	SMART
WD40	574	613	1.62e-8	SMART
WD40	617	659	8.25e0	SMART
WD40	670	708	2.65e1	SMART
WD40	711	750	2.32e-9	SMART
WD40	753	796	4.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169503

SMART Domains

Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
low complexity region	31	55	N/A	INTRINSIC
Pfam:Striatin	64	198	3.2e-51	PFAM
low complexity region	252	263	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
WD40	384	423	7.05e-9	SMART
WD40	437	476	2.42e-7	SMART
WD40	490	529	1.62e-8	SMART
WD40	533	575	8.25e0	SMART
WD40	586	624	2.65e1	SMART
WD40	627	666	2.32e-9	SMART
WD40	669	712	4.95e-4	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	T	11: 76,003,198	I134F	probably damaging	Het
Abca2	A	G	2: 25,446,319	I2201V	probably benign	Het
Adam22	T	C	5: 8,095,007	N817S	probably damaging	Het
Alox12	C	A	11: 70,250,165	R348L	probably damaging	Het
Asb17	A	T	3: 153,853,506	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733	S182P	possibly damaging	Het
Cenpe	T	C	3: 135,238,394	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,300,235	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917	I126V	probably benign	Het
Cubn	T	C	2: 13,427,967	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,373,978	L147Q	probably damaging	Het
D430042O09Rik	C	A	7: 125,842,848	S643Y	probably damaging	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Fat2	T	C	11: 55,309,974	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,016	D15G	probably damaging	Het
Flt3	T	C	5: 147,344,513	E803G	probably damaging	Het
Folr1	T	G	7: 101,858,594	D213A	probably damaging	Het
Fus	T	C	7: 127,979,922	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,765,514	R111*	probably null	Het
Gm17324	T	C	9: 78,448,682		probably benign	Het
Hormad2	A	T	11: 4,408,848		probably null	Het
Ifi27l2b	T	A	12: 103,456,521		probably null	Het
Isg20	G	T	7: 78,920,143	C176F	probably benign	Het
Krt15	C	A	11: 100,133,181	V346L	probably benign	Het
Med13l	A	G	5: 118,738,519	K920R	probably damaging	Het
Mlh3	A	T	12: 85,266,920	F831I	probably benign	Het
Mtmr9	A	G	14: 63,534,337	S267P	probably benign	Het
Mybpc1	C	T	10: 88,553,331	A406T	probably damaging	Het
Myh1	T	C	11: 67,211,370	M829T	probably benign	Het
Myo10	A	G	15: 25,780,411	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,239,552	V153D	probably damaging	Het
Olfr1195	T	A	2: 88,683,079	I218F	probably benign	Het
Olfr348	A	G	2: 36,786,684	D53G	probably damaging	Het
Olfr694	C	T	7: 106,688,980	M250I	probably benign	Het
Olfr898	C	A	9: 38,349,362	S87*	probably null	Het
Oog3	A	T	4: 144,162,599	I3N	probably damaging	Het
Pcnt	G	A	10: 76,367,330	T2646M	probably benign	Het
Phf10	A	T	17: 14,946,250	C453S	probably damaging	Het
Plcb4	T	A	2: 135,970,447		probably null	Het
Plekhh1	A	G	12: 79,076,708	H1185R	probably benign	Het
Prmt3	G	T	7: 49,826,854	V404L	probably benign	Het
Ptprb	T	A	10: 116,339,467	D1122E	probably benign	Het
Rars	A	G	11: 35,821,094		probably null	Het
Rasa2	G	T	9: 96,545,750	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,596,535	T40A	probably damaging	Het
Rem2	T	C	14: 54,476,318	V16A	probably benign	Het
Rlf	A	T	4: 121,150,391	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,694,217	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,476,623	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,385,893	S278P	probably benign	Het
Sycp2	A	T	2: 178,382,385	I402N	probably damaging	Het
Synj1	C	T	16: 90,987,402	V283I	probably benign	Het
Tas2r108	A	G	6: 40,494,066		probably null	Het
Ttpal	A	G	2: 163,615,403	N265S	probably benign	Het
Unc80	G	A	1: 66,637,957	G2015D	probably damaging	Het
Upf1	C	T	8: 70,343,367	W138*	probably null	Het
Vmn1r25	T	G	6: 57,978,801	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,586,836	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,389,444	T640N	probably damaging	Het
Wdr75	T	A	1: 45,803,870		probably null	Het
Zdbf2	T	G	1: 63,303,588	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,204,392	Q99R	probably benign	Het
Zfp964	C	T	8: 69,663,004	P85S	probably benign	Het

Other mutations in Strn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Strn3	APN	12	51661196	missense	possibly damaging	0.63
IGL00690:Strn3	APN	12	51610438	missense	possibly damaging	0.96
IGL00886:Strn3	APN	12	51610150	missense	probably damaging	1.00
IGL01967:Strn3	APN	12	51652813	missense	probably damaging	1.00
IGL02507:Strn3	APN	12	51661627	nonsense	probably null
IGL03139:Strn3	APN	12	51652850	splice site	probably benign
IGL03282:Strn3	APN	12	51627209	missense	probably benign	0.00
PIT4519001:Strn3	UTSW	12	51633708	missense	probably benign	0.00
R0106:Strn3	UTSW	12	51621788	missense	probably benign	0.01
R0106:Strn3	UTSW	12	51621788	missense	probably benign	0.01
R0336:Strn3	UTSW	12	51661608	critical splice donor site	probably null
R0492:Strn3	UTSW	12	51610404	missense	probably damaging	1.00
R0512:Strn3	UTSW	12	51627183	missense	possibly damaging	0.94
R0610:Strn3	UTSW	12	51610448	critical splice acceptor site	probably null
R0707:Strn3	UTSW	12	51610404	missense	probably damaging	1.00
R0834:Strn3	UTSW	12	51627096	splice site	probably benign
R1599:Strn3	UTSW	12	51652766	missense	possibly damaging	0.78
R1663:Strn3	UTSW	12	51652826	missense	probably damaging	1.00
R1807:Strn3	UTSW	12	51627203	missense	probably benign	0.10
R2263:Strn3	UTSW	12	51643223	splice site	probably null
R2443:Strn3	UTSW	12	51627835	missense	probably damaging	1.00
R3623:Strn3	UTSW	12	51661216	missense	possibly damaging	0.87
R3624:Strn3	UTSW	12	51661216	missense	possibly damaging	0.87
R4154:Strn3	UTSW	12	51627131	missense	probably damaging	1.00
R4223:Strn3	UTSW	12	51627855	missense	probably damaging	1.00
R4400:Strn3	UTSW	12	51648100	missense	possibly damaging	0.85
R4564:Strn3	UTSW	12	51633621	missense	probably benign	0.00
R4585:Strn3	UTSW	12	51650170	missense	probably benign	0.02
R4755:Strn3	UTSW	12	51610216	missense	possibly damaging	0.70
R4794:Strn3	UTSW	12	51650171	missense	probably benign	0.38
R5288:Strn3	UTSW	12	51648020	missense	probably damaging	1.00
R5308:Strn3	UTSW	12	51629385	missense	probably damaging	0.99
R5765:Strn3	UTSW	12	51633627	missense	probably benign
R5893:Strn3	UTSW	12	51643223	splice site	probably null
R5945:Strn3	UTSW	12	51629496	missense	probably benign	0.00
R6244:Strn3	UTSW	12	51610107	missense	probably damaging	0.98
R6523:Strn3	UTSW	12	51643098	splice site	probably null
R7437:Strn3	UTSW	12	51610163	missense	probably damaging	1.00
R7545:Strn3	UTSW	12	51627760	missense	probably damaging	0.98
R8299:Strn3	UTSW	12	51648107	missense	probably damaging	1.00
R8337:Strn3	UTSW	12	51661172	missense	probably damaging	1.00
X0024:Strn3	UTSW	12	51652709	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGCTACATTTGAACCACACGAC -3'
(R):5'- TTTAGTAAGGCTGCCAGCAAGTCAG -3'

Sequencing Primer
(F):5'- GGAAGGTACTCTGAACTGATCTATG -3'
(R):5'- CCAGCAAGTCAGGCGGTAG -3'

Posted On

2014-04-13