Mutagenetix > Incidental Mutation

Incidental Mutation 'R4585:Strn3'

344044

Institutional Source

Beutler Lab

Gene Symbol

Strn3

Ensembl Gene

ENSMUSG00000020954

Gene Name

striatin, calmodulin binding protein 3

Synonyms

SG2NA

MMRRC Submission

041806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51656415-51738680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51696953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 259 (E259D)

Ref Sequence

ENSEMBL: ENSMUSP00000013130 (fasta)

Gene Model

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

AlphaFold

Q9ERG2

Predicted Effect

probably benign
Transcript: ENSMUST00000013130
AA Change: E259D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: E259D

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
AA Change: E259D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: E259D

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

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Akr7a5	G	T	4: 139,038,238 (GRCm39)	R58L	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Aurkaip1	C	A	4: 155,917,091 (GRCm39)	A113D	possibly damaging	Het
Bsn	T	C	9: 107,987,662 (GRCm39)		probably benign	Het
Ccdc175	T	G	12: 72,221,953 (GRCm39)	D123A	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Ccnt2	T	C	1: 127,730,766 (GRCm39)	S548P	probably damaging	Het
Cep126	T	C	9: 8,103,338 (GRCm39)	Q224R	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Cngb1	C	T	8: 96,023,756 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,723,024 (GRCm39)		probably null	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Crebrf	A	G	17: 26,981,229 (GRCm39)	K535R	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cxcr5	T	A	9: 44,425,442 (GRCm39)	I72F	probably benign	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dlgap2	G	A	8: 14,777,999 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,970,541 (GRCm39)	D2684G	probably benign	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	G	A	18: 6,441,157 (GRCm39)	Q14*	probably null	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Glra3	C	A	8: 56,542,028 (GRCm39)	T257K	probably damaging	Het
Gm12789	A	G	4: 101,847,159 (GRCm39)	Y148C	possibly damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm19965	T	A	1: 116,749,508 (GRCm39)	N396K	probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gsdmd	T	A	15: 75,737,600 (GRCm39)		probably null	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Lctl	T	C	9: 64,038,882 (GRCm39)	S324P	probably damaging	Het
Lrrc24	C	A	15: 76,607,889 (GRCm39)	R43L	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mroh5	T	A	15: 73,661,120 (GRCm39)	T467S	probably benign	Het
Mtap	G	A	4: 89,090,511 (GRCm39)	V194I	probably benign	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pabpc6	A	G	17: 9,888,002 (GRCm39)	L183P	probably damaging	Het
Pcdh15	C	T	10: 74,460,116 (GRCm39)	R1355W	probably damaging	Het
Pcdhgb8	C	A	18: 37,895,413 (GRCm39)	A161E	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Phc2	A	T	4: 128,637,303 (GRCm39)	H563L	probably damaging	Het
Plekha2	C	A	8: 25,533,685 (GRCm39)	E291*	probably null	Het
Qser1	C	A	2: 104,617,138 (GRCm39)	V1225L	probably benign	Het
Ralgapa2	A	T	2: 146,156,944 (GRCm39)	D1882E	probably damaging	Het
Rgs17	T	C	10: 5,792,596 (GRCm39)	D70G	probably benign	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Serpinb10	T	A	1: 107,474,779 (GRCm39)	C314S	probably benign	Het
Setbp1	A	C	18: 79,130,164 (GRCm39)	S23A	probably benign	Het
Sh3pxd2b	A	G	11: 32,346,479 (GRCm39)	D116G	possibly damaging	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,351,491 (GRCm39)	L155P	probably damaging	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Tenm1	G	A	X: 41,626,856 (GRCm39)	Q1931*	probably null	Het
Trp53bp1	C	G	2: 121,038,432 (GRCm39)	G1469R	probably damaging	Het
Ttc8	C	A	12: 98,948,789 (GRCm39)	Q492K	probably benign	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Utrn	T	A	10: 12,564,050 (GRCm39)	H1270L	probably benign	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Wdfy4	T	A	14: 32,809,912 (GRCm39)	I1770F	possibly damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het

Other mutations in Strn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Strn3	APN	12	51,707,979 (GRCm39)	missense	possibly damaging	0.63
IGL00690:Strn3	APN	12	51,657,221 (GRCm39)	missense	possibly damaging	0.96
IGL00886:Strn3	APN	12	51,656,933 (GRCm39)	missense	probably damaging	1.00
IGL01967:Strn3	APN	12	51,699,596 (GRCm39)	missense	probably damaging	1.00
IGL02507:Strn3	APN	12	51,708,410 (GRCm39)	nonsense	probably null
IGL03139:Strn3	APN	12	51,699,633 (GRCm39)	splice site	probably benign
IGL03282:Strn3	APN	12	51,673,992 (GRCm39)	missense	probably benign	0.00
PIT4519001:Strn3	UTSW	12	51,680,491 (GRCm39)	missense	probably benign	0.00
R0106:Strn3	UTSW	12	51,668,571 (GRCm39)	missense	probably benign	0.01
R0106:Strn3	UTSW	12	51,668,571 (GRCm39)	missense	probably benign	0.01
R0336:Strn3	UTSW	12	51,708,391 (GRCm39)	critical splice donor site	probably null
R0492:Strn3	UTSW	12	51,657,187 (GRCm39)	missense	probably damaging	1.00
R0512:Strn3	UTSW	12	51,673,966 (GRCm39)	missense	possibly damaging	0.94
R0610:Strn3	UTSW	12	51,657,231 (GRCm39)	critical splice acceptor site	probably null
R0707:Strn3	UTSW	12	51,657,187 (GRCm39)	missense	probably damaging	1.00
R0834:Strn3	UTSW	12	51,673,879 (GRCm39)	splice site	probably benign
R1562:Strn3	UTSW	12	51,680,401 (GRCm39)	missense	probably benign
R1599:Strn3	UTSW	12	51,699,549 (GRCm39)	missense	possibly damaging	0.78
R1663:Strn3	UTSW	12	51,699,609 (GRCm39)	missense	probably damaging	1.00
R1807:Strn3	UTSW	12	51,673,986 (GRCm39)	missense	probably benign	0.10
R2263:Strn3	UTSW	12	51,690,006 (GRCm39)	splice site	probably null
R2443:Strn3	UTSW	12	51,674,618 (GRCm39)	missense	probably damaging	1.00
R3623:Strn3	UTSW	12	51,707,999 (GRCm39)	missense	possibly damaging	0.87
R3624:Strn3	UTSW	12	51,707,999 (GRCm39)	missense	possibly damaging	0.87
R4154:Strn3	UTSW	12	51,673,914 (GRCm39)	missense	probably damaging	1.00
R4223:Strn3	UTSW	12	51,674,638 (GRCm39)	missense	probably damaging	1.00
R4400:Strn3	UTSW	12	51,694,883 (GRCm39)	missense	possibly damaging	0.85
R4564:Strn3	UTSW	12	51,680,404 (GRCm39)	missense	probably benign	0.00
R4755:Strn3	UTSW	12	51,656,999 (GRCm39)	missense	possibly damaging	0.70
R4794:Strn3	UTSW	12	51,696,954 (GRCm39)	missense	probably benign	0.38
R5288:Strn3	UTSW	12	51,694,803 (GRCm39)	missense	probably damaging	1.00
R5308:Strn3	UTSW	12	51,676,168 (GRCm39)	missense	probably damaging	0.99
R5765:Strn3	UTSW	12	51,680,410 (GRCm39)	missense	probably benign
R5893:Strn3	UTSW	12	51,690,006 (GRCm39)	splice site	probably null
R5945:Strn3	UTSW	12	51,676,279 (GRCm39)	missense	probably benign	0.00
R6244:Strn3	UTSW	12	51,656,890 (GRCm39)	missense	probably damaging	0.98
R6523:Strn3	UTSW	12	51,689,881 (GRCm39)	splice site	probably null
R7437:Strn3	UTSW	12	51,656,946 (GRCm39)	missense	probably damaging	1.00
R7545:Strn3	UTSW	12	51,674,543 (GRCm39)	missense	probably damaging	0.98
R8299:Strn3	UTSW	12	51,694,890 (GRCm39)	missense	probably damaging	1.00
R8337:Strn3	UTSW	12	51,707,955 (GRCm39)	missense	probably damaging	1.00
R9141:Strn3	UTSW	12	51,694,873 (GRCm39)	missense	probably damaging	1.00
R9426:Strn3	UTSW	12	51,694,873 (GRCm39)	missense	probably damaging	1.00
R9501:Strn3	UTSW	12	51,696,956 (GRCm39)	missense	probably damaging	0.99
R9503:Strn3	UTSW	12	51,656,894 (GRCm39)	missense	possibly damaging	0.68
R9518:Strn3	UTSW	12	51,696,956 (GRCm39)	missense	probably damaging	0.99
R9563:Strn3	UTSW	12	51,674,300 (GRCm39)	missense	possibly damaging	0.92
R9630:Strn3	UTSW	12	51,657,013 (GRCm39)	missense	probably damaging	1.00
R9696:Strn3	UTSW	12	51,676,286 (GRCm39)	missense	probably damaging	1.00
X0024:Strn3	UTSW	12	51,699,492 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCATATGTACATGAACGGAGTAG -3'
(R):5'- GCAGATGCCACCTTCAAGTAG -3'

Sequencing Primer
(F):5'- GGAGCTGGCAGTTATTATAAACC -3'
(R):5'- ACTTGTCTAGCATGTGTGACATC -3'

Posted On

2015-09-24