Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03282:Strn3'

415616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Strn3

Ensembl Gene

ENSMUSG00000020954

Gene Name

striatin, calmodulin binding protein 3

Synonyms

SG2NA

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03282

Quality Score

Status

Chromosome

Chromosomal Location

51656415-51738680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51673992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 540 (I540V)

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: I540V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: I540V

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: I456V

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

SMART Domains

Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: I456V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl1	A	G	12: 70,001,238 (GRCm39)	I333M	possibly damaging	Het
Atxn2	A	G	5: 121,923,298 (GRCm39)	T52A	probably benign	Het
Atxn7	T	A	14: 14,100,564 (GRCm38)	L750H	probably damaging	Het
Cadps	T	C	14: 12,465,856 (GRCm38)		probably benign	Het
Cts6	T	A	13: 61,344,261 (GRCm39)	I264F	possibly damaging	Het
Dnah6	G	T	6: 73,030,630 (GRCm39)		probably benign	Het
Epg5	A	G	18: 78,029,641 (GRCm39)	S1335G	probably benign	Het
Gm10073	A	T	8: 107,299,972 (GRCm39)	V4D	probably benign	Het
Gpld1	T	A	13: 25,155,391 (GRCm39)	M342K	probably benign	Het
Herc1	T	A	9: 66,358,741 (GRCm39)	F2607L	probably benign	Het
Ighv2-9-1	T	C	12: 113,733,485 (GRCm39)	Y112C	probably damaging	Het
Itga4	A	T	2: 79,155,938 (GRCm39)	H968L	probably damaging	Het
Me1	C	T	9: 86,495,649 (GRCm39)	R286Q	probably damaging	Het
Med1	G	A	11: 98,047,643 (GRCm39)	T1051M	probably damaging	Het
Msh2	T	G	17: 87,996,430 (GRCm39)	D379E	probably benign	Het
Mup4	T	A	4: 59,958,547 (GRCm39)	M118L	possibly damaging	Het
Ostm1	A	T	10: 42,574,227 (GRCm39)	S152C	probably damaging	Het
Pla2g1b	A	G	5: 115,608,939 (GRCm39)	N45D	probably damaging	Het
Rab21	A	G	10: 115,134,803 (GRCm39)		probably benign	Het
Rapgef4	G	A	2: 72,036,096 (GRCm39)		probably benign	Het
Slc38a8	G	T	8: 120,226,455 (GRCm39)	N111K	probably damaging	Het
Snrnp35	A	G	5: 124,628,372 (GRCm39)	T62A	probably damaging	Het
Tgm1	A	G	14: 55,948,527 (GRCm39)	V208A	probably damaging	Het
Vmn1r62	A	T	7: 5,678,547 (GRCm39)	D76V	possibly damaging	Het
Vmn1r90	T	A	7: 14,295,426 (GRCm39)	H224L	probably benign	Het
Vmn1r90	A	T	7: 14,296,093 (GRCm39)	S2T	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
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
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

Posted On

2016-08-02