Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Strip2'

370748

Institutional Source

Beutler Lab

Gene Symbol

Strip2

Ensembl Gene

ENSMUSG00000039629

Gene Name

striatin interacting protein 2

Synonyms

Myoscape, D330017J20Rik, Fam40b

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29917011-29959680 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 29925092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 143 (Y143*)

Ref Sequence

ENSEMBL: ENSMUSP00000119506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046028] [ENSMUST00000115224] [ENSMUST00000151738]

AlphaFold

Q8C9H6

Predicted Effect

probably null
Transcript: ENSMUST00000046028
AA Change: Y143*

SMART Domains

Protein: ENSMUSP00000036477
Gene: ENSMUSG00000039629
AA Change: Y143*

Domain	Start	End	E-Value	Type
low complexity region	2	40	N/A	INTRINSIC
N1221	57	364	1.68e-132	SMART
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	419	N/A	INTRINSIC
DUF3402	466	822	4.98e-199	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115224
AA Change: Y143*

SMART Domains

Protein: ENSMUSP00000110879
Gene: ENSMUSG00000039629
AA Change: Y143*

Domain	Start	End	E-Value	Type
low complexity region	2	40	N/A	INTRINSIC
N1221	57	364	1.68e-132	SMART
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	419	N/A	INTRINSIC
DUF3402	466	662	4.85e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137068

Predicted Effect

probably null
Transcript: ENSMUST00000151738
AA Change: Y143*

SMART Domains

Protein: ENSMUSP00000119506
Gene: ENSMUSG00000039629
AA Change: Y143*

Domain	Start	End	E-Value	Type
low complexity region	2	40	N/A	INTRINSIC
N1221	57	364	1.68e-132	SMART
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	419	N/A	INTRINSIC
DUF3402	466	794	1.72e-161	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	Het

Other mutations in Strip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Strip2	APN	6	29,931,213 (GRCm39)	missense	probably benign	0.04
IGL01357:Strip2	APN	6	29,939,166 (GRCm39)	splice site	probably benign
IGL01636:Strip2	APN	6	29,931,192 (GRCm39)	missense	probably benign	0.06
IGL01959:Strip2	APN	6	29,928,553 (GRCm39)	missense	probably damaging	0.99
IGL01961:Strip2	APN	6	29,928,426 (GRCm39)	splice site	probably benign
IGL02089:Strip2	APN	6	29,917,179 (GRCm39)	unclassified	probably benign
1mM(1):Strip2	UTSW	6	29,955,630 (GRCm39)	missense	probably damaging	1.00
R0079:Strip2	UTSW	6	29,920,532 (GRCm39)	critical splice donor site	probably null
R0331:Strip2	UTSW	6	29,926,559 (GRCm39)	missense	probably benign	0.44
R0367:Strip2	UTSW	6	29,937,650 (GRCm39)	missense	possibly damaging	0.90
R0592:Strip2	UTSW	6	29,931,209 (GRCm39)	missense	probably benign	0.28
R1087:Strip2	UTSW	6	29,927,633 (GRCm39)	missense	probably damaging	0.99
R1390:Strip2	UTSW	6	29,929,828 (GRCm39)	missense	probably damaging	1.00
R1758:Strip2	UTSW	6	29,941,940 (GRCm39)	critical splice donor site	probably null
R2213:Strip2	UTSW	6	29,931,147 (GRCm39)	missense	probably damaging	0.99
R2437:Strip2	UTSW	6	29,941,940 (GRCm39)	critical splice donor site	probably null
R2900:Strip2	UTSW	6	29,939,034 (GRCm39)	critical splice acceptor site	probably null
R3892:Strip2	UTSW	6	29,917,074 (GRCm39)	unclassified	probably benign
R4010:Strip2	UTSW	6	29,955,584 (GRCm39)	missense	possibly damaging	0.66
R4435:Strip2	UTSW	6	29,925,049 (GRCm39)	missense	probably benign	0.06
R5015:Strip2	UTSW	6	29,931,265 (GRCm39)	missense	probably benign	0.03
R5080:Strip2	UTSW	6	29,945,592 (GRCm39)	missense	probably damaging	0.99
R5484:Strip2	UTSW	6	29,917,154 (GRCm39)	unclassified	probably benign
R5502:Strip2	UTSW	6	29,927,623 (GRCm39)	missense	probably benign	0.23
R5899:Strip2	UTSW	6	29,956,957 (GRCm39)	utr 3 prime	probably benign
R6004:Strip2	UTSW	6	29,926,570 (GRCm39)	missense	probably damaging	0.98
R6479:Strip2	UTSW	6	29,944,496 (GRCm39)	splice site	probably null
R6835:Strip2	UTSW	6	29,941,916 (GRCm39)	missense	probably damaging	1.00
R7068:Strip2	UTSW	6	29,932,207 (GRCm39)	missense	probably benign	0.03
R7073:Strip2	UTSW	6	29,941,911 (GRCm39)	missense	possibly damaging	0.95
R7088:Strip2	UTSW	6	29,920,532 (GRCm39)	critical splice donor site	probably null
R7231:Strip2	UTSW	6	29,944,486 (GRCm39)	missense	probably damaging	0.96
R7399:Strip2	UTSW	6	29,927,612 (GRCm39)	missense	possibly damaging	0.94
R7813:Strip2	UTSW	6	29,923,912 (GRCm39)	critical splice acceptor site	probably null
R7827:Strip2	UTSW	6	29,923,928 (GRCm39)	missense	probably benign	0.18
R8354:Strip2	UTSW	6	29,920,531 (GRCm39)	critical splice donor site	probably null
R8723:Strip2	UTSW	6	29,941,863 (GRCm39)	missense	probably damaging	1.00
R8750:Strip2	UTSW	6	29,931,815 (GRCm39)	missense	probably damaging	0.96
R8793:Strip2	UTSW	6	29,956,815 (GRCm39)	missense	probably benign	0.27
R8843:Strip2	UTSW	6	29,923,968 (GRCm39)	missense	probably benign	0.44
R9175:Strip2	UTSW	6	29,933,035 (GRCm39)	missense	probably benign	0.01
R9336:Strip2	UTSW	6	29,931,824 (GRCm39)	missense	probably benign	0.03
R9381:Strip2	UTSW	6	29,927,333 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TATCAGGGCCCTTTCTAGGAAG -3'
(R):5'- TTCTTAGGCAGATCCCAAGAGC -3'

Sequencing Primer
(F):5'- CCCTTTCTAGGAAGAAGTGGC -3'
(R):5'- GGCAGATCCCAAGAGCTCCAC -3'

Posted On

2016-02-04