Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Strn3'

505475

Institutional Source

Beutler Lab

Gene Symbol

Strn3

Ensembl Gene

ENSMUSG00000020954

Gene Name

striatin, calmodulin binding protein 3

Synonyms

SG2NA

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51656415-51738680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51656890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 712 (V712A)

Ref Sequence

ENSEMBL: ENSMUSP00000130184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013130] [ENSMUST00000085412] [ENSMUST00000164782] [ENSMUST00000169503]

AlphaFold

Q9ERG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013130
AA Change: V796A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: V796A

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: ENSMUST00000085412

SMART Domains

Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LCCL	32	114	3.64e-47	SMART
VWA	165	337	2.06e-33	SMART
VWA	367	540	6.43e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164782

SMART Domains

Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LCCL	32	114	3.64e-47	SMART
VWA	165	337	2.06e-33	SMART
VWA	367	540	6.43e-44	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169503
AA Change: V712A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: V712A

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	probably benign	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
R4585:Strn3	UTSW	12	51,696,953 (GRCm39)	missense	probably benign	0.02
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
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'- ATAGGGCACAGATACTGGAGTCC -3'
(R):5'- ACAGGCCATGACTGTTCCATTAG -3'

Sequencing Primer
(F):5'- GGCACAGATACTGGAGTCCTTTTTC -3'
(R):5'- GGCCATGACTGTTCCATTAGACTATG -3'

Posted On

2018-02-28