Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Strn3'

457323

Institutional Source

Beutler Lab

Gene Symbol

Strn3

Ensembl Gene

ENSMUSG00000020954

Gene Name

striatin, calmodulin binding protein 3

Synonyms

SG2NA

MMRRC Submission

044094-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51656415-51738680 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 51690006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000013130 (fasta)

Gene Model

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

AlphaFold

Q9ERG2

Predicted Effect

probably null
Transcript: ENSMUST00000013130

SMART Domains

Protein: ENSMUSP00000013130
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	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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218212

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	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
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'- CCCTTTTGTTCAACACAGCATAGG -3'
(R):5'- GCTTATATGATGCTGGCTGAATAG -3'

Sequencing Primer
(F):5'- TTGTTCAACACAGCATAGGAAAATGG -3'
(R):5'- CCATTTGTGAAATACTCAAATTTGCC -3'

Posted On

2017-02-15