Mutagenetix > Incidental Mutation

Incidental Mutation 'R1807:Strn3'

203561

Institutional Source

Beutler Lab

Gene Symbol

Strn3

Ensembl Gene

ENSMUSG00000020954

Gene Name

striatin, calmodulin binding protein 3

Synonyms

SG2NA

MMRRC Submission

039836-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51656415-51738680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51673986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 542 (S542T)

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: S542T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: S542T

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: S458T

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: S458T

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

0.0745

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.7%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	T	17: 36,205,961 (GRCm39)	W27*	probably null	Het
4933430I17Rik	T	A	4: 62,460,993 (GRCm39)	Y289*	probably null	Het
A3galt2	A	G	4: 128,661,394 (GRCm39)	I348V	probably benign	Het
Abca13	A	G	11: 9,241,755 (GRCm39)	Y1206C	probably damaging	Het
Adar	T	C	3: 89,642,172 (GRCm39)	S18P	probably benign	Het
Akr1cl	T	C	1: 65,061,106 (GRCm39)	D139G	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,873 (GRCm39)	Y137C	possibly damaging	Het
Arsa	T	C	15: 89,359,525 (GRCm39)	M86V	possibly damaging	Het
Atg9b	C	A	5: 24,592,055 (GRCm39)	R648L	probably damaging	Het
Atrn	A	G	2: 130,824,692 (GRCm39)	N1042S	possibly damaging	Het
Ccdc6	T	A	10: 70,010,989 (GRCm39)	D325E	possibly damaging	Het
Cdk12	T	C	11: 98,101,203 (GRCm39)	S354P	unknown	Het
Chst3	T	A	10: 60,022,130 (GRCm39)	Y239F	probably benign	Het
Cilp2	C	A	8: 70,334,844 (GRCm39)	R718L	probably damaging	Het
Col27a1	A	G	4: 63,249,586 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,616,137 (GRCm39)	N266S	probably benign	Het
Ctnnd2	T	C	15: 30,620,017 (GRCm39)	V123A	probably damaging	Het
Cyria	G	A	12: 12,411,505 (GRCm39)	R123Q	probably benign	Het
D7Ertd443e	T	A	7: 133,895,034 (GRCm39)	E552V	probably null	Het
Dcst1	T	A	3: 89,260,848 (GRCm39)	H516L	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Drd2	C	T	9: 49,316,367 (GRCm39)	L376F	probably damaging	Het
Edn1	A	G	13: 42,460,270 (GRCm39)	N175S	probably damaging	Het
Eipr1	G	T	12: 28,816,838 (GRCm39)	G65V	probably damaging	Het
Epha4	G	A	1: 77,351,541 (GRCm39)	P905S	probably benign	Het
Erbb2	T	C	11: 98,319,680 (GRCm39)	Y591H	probably damaging	Het
Fam135b	G	A	15: 71,335,761 (GRCm39)	R478C	probably benign	Het
Fat2	T	C	11: 55,180,085 (GRCm39)	T1419A	probably damaging	Het
Flnb	C	T	14: 7,934,645 (GRCm38)	T2239I	probably benign	Het
Gm7713	T	C	15: 59,866,320 (GRCm39)		noncoding transcript	Het
Hsf5	C	T	11: 87,548,168 (GRCm39)	P617L	probably benign	Het
Kcnk12	C	A	17: 88,053,468 (GRCm39)	R398L	probably benign	Het
Kif21b	T	A	1: 136,075,531 (GRCm39)	N219K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra5	A	T	6: 129,876,383 (GRCm39)	F141L	probably benign	Het
Lmtk3	C	T	7: 45,442,702 (GRCm39)	P462S	probably benign	Het
Mast2	A	G	4: 116,167,938 (GRCm39)		probably benign	Het
Me1	T	A	9: 86,532,932 (GRCm39)	T197S	probably damaging	Het
Msr1	T	A	8: 40,072,948 (GRCm39)	Q267L	probably benign	Het
Nfic	T	C	10: 81,240,819 (GRCm39)	T328A	probably benign	Het
Nphp3	G	A	9: 103,897,940 (GRCm39)	D390N	probably benign	Het
Nr2e1	T	A	10: 42,458,905 (GRCm39)		probably null	Het
Nt5el	A	T	13: 105,218,744 (GRCm39)	Q26L	probably benign	Het
Or52e19b	T	A	7: 103,032,790 (GRCm39)	N140Y	probably benign	Het
Or5t9	T	A	2: 86,659,445 (GRCm39)	F116L	probably benign	Het
Pard6b	T	C	2: 167,929,332 (GRCm39)	L46P	probably damaging	Het
Prkaa1	T	A	15: 5,173,436 (GRCm39)	L20Q	probably damaging	Het
Rapgefl1	T	C	11: 98,736,815 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,785,941 (GRCm39)	K611E	possibly damaging	Het
Rexo1	A	T	10: 80,378,413 (GRCm39)	I1180N	possibly damaging	Het
Rnf26rt	A	G	6: 76,474,397 (GRCm39)	V73A	probably benign	Het
Rph3a	T	C	5: 121,083,456 (GRCm39)	N605D	probably damaging	Het
Sema6a	A	G	18: 47,409,491 (GRCm39)	V592A	possibly damaging	Het
Skint11	A	T	4: 114,051,893 (GRCm39)	R80S	probably benign	Het
Smpdl3a	C	A	10: 57,677,118 (GRCm39)	P72H	probably damaging	Het
Sobp	T	G	10: 43,036,822 (GRCm39)	M39L	possibly damaging	Het
Sparcl1	T	A	5: 104,233,627 (GRCm39)	Y574F	probably damaging	Het
Spns3	C	T	11: 72,429,166 (GRCm39)	W206*	probably null	Het
Srf	A	G	17: 46,864,685 (GRCm39)	V190A	possibly damaging	Het
Stag1	T	G	9: 100,790,719 (GRCm39)	H742Q	probably benign	Het
Synpo2	T	C	3: 122,873,906 (GRCm39)	E1020G	possibly damaging	Het
Tcerg1l	T	A	7: 137,996,826 (GRCm39)	H137L	probably benign	Het
Tlr12	A	T	4: 128,511,229 (GRCm39)	D340E	probably benign	Het
Tmem130	T	A	5: 144,692,174 (GRCm39)	T77S	probably benign	Het
Tmem143	C	A	7: 45,547,037 (GRCm39)	R68S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trem1	G	T	17: 48,548,663 (GRCm39)	G67*	probably null	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Txndc9	A	T	1: 38,033,096 (GRCm39)	H95Q	probably damaging	Het
Yju2b	C	T	8: 84,986,936 (GRCm39)	R187Q	probably damaging	Het
Zfp35	T	A	18: 24,136,986 (GRCm39)	N443K	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
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

Predicted Primers

PCR Primer
(F):5'- CATGCACTAAAATACTCCTGGCATG -3'
(R):5'- CGTTAGTTGAATAATGCCTCATTCG -3'

Sequencing Primer
(F):5'- AAATACTCCTGGCATGACATTTCTC -3'
(R):5'- ACATTAGTGAATGGATTGAGG -3'

Posted On

2014-06-23