Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Sh3rf2'

175773

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42053667-42158960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42111288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 273 (T273I)

Ref Sequence

ENSEMBL: ENSMUSP00000074247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072008] [ENSMUST00000074679]

AlphaFold

Q8BZT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072008
AA Change: T305I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: T305I

Domain	Start	End	E-Value	Type
RING	12	52	7.38e-8	SMART
low complexity region	63	73	N/A	INTRINSIC
SH3	128	183	4.66e-17	SMART
SH3	190	251	1.45e-13	SMART
low complexity region	357	366	N/A	INTRINSIC
SH3	385	442	3.27e-12	SMART
low complexity region	500	514	N/A	INTRINSIC
low complexity region	614	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000074679
AA Change: T273I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: T273I

Domain	Start	End	E-Value	Type
RING	12	52	7.38e-8	SMART
low complexity region	63	73	N/A	INTRINSIC
SH3	128	183	4.66e-17	SMART
low complexity region	325	334	N/A	INTRINSIC
SH3	353	410	3.27e-12	SMART
low complexity region	468	482	N/A	INTRINSIC
low complexity region	582	599	N/A	INTRINSIC

Meta Mutation Damage Score

0.1859

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,177,300		probably null	Het
Abcc10	G	T	17: 46,322,238	P556H	probably damaging	Het
Abcc9	A	T	6: 142,633,095	D914E	probably benign	Het
Adgrf4	A	G	17: 42,667,873	V193A	probably benign	Het
Adm	A	T	7: 110,629,091	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,772,120		probably null	Het
Angpt2	T	C	8: 18,698,113	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,422,767		probably null	Het
Arhgap30	T	G	1: 171,408,341	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692	N28K	probably damaging	Het
Ccdc144b	C	T	3: 36,018,997	A379T	probably damaging	Het
Cd177	A	T	7: 24,744,964	D696E	probably benign	Het
Cd200	G	A	16: 45,394,851	T123I	probably benign	Het
Cfap70	A	G	14: 20,447,536	V50A	probably benign	Het
Chaf1b	T	C	16: 93,905,099		probably null	Het
Chgb	A	C	2: 132,793,737	D533A	probably benign	Het
Col12a1	A	G	9: 79,602,254	Y3041H	probably damaging	Het
Crot	T	C	5: 8,974,186	N337D	probably benign	Het
Csad	G	A	15: 102,177,782	A51V	probably damaging	Het
Cyp2b9	A	G	7: 26,200,907	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 66,815,503	A299E	probably damaging	Het
Efcc1	A	G	6: 87,731,458	E189G	probably damaging	Het
Egfr	T	C	11: 16,906,847	I940T	probably damaging	Het
Etnk2	T	G	1: 133,373,179	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,469,690	I201T	probably benign	Het
Foxo1	A	T	3: 52,345,954	M513L	probably benign	Het
Galnt16	A	T	12: 80,590,636	K379I	probably damaging	Het
Gm5689	T	C	18: 42,173,389	M7T	probably benign	Het
Gtf2a1	T	A	12: 91,589,549	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,427,586	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,451,163	D30V	probably damaging	Het
Lrrc7	G	A	3: 158,177,277	Q448*	probably null	Het
Med29	T	C	7: 28,392,503	D54G	probably damaging	Het
Mfn2	T	C	4: 147,894,696	T60A	probably benign	Het
Mroh1	T	C	15: 76,433,530		probably benign	Het
Mxd1	A	T	6: 86,651,471	V149E	possibly damaging	Het
Naip6	A	T	13: 100,299,094	Y974N	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Nhsl1	G	T	10: 18,526,348	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,965,302	E81G	probably benign	Het
Olfr119	G	T	17: 37,701,113	A148S	probably benign	Het
Olfr311	G	T	11: 58,841,652	M179I	probably benign	Het
Osbpl5	C	T	7: 143,703,218	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,520,453	V401E	probably damaging	Het
Pcm1	T	A	8: 41,309,635	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,164,744	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,753	L664R	possibly damaging	Het
Phkb	T	C	8: 86,026,553		probably benign	Het
Ptchd3	T	A	11: 121,830,594	F98I	probably damaging	Het
Ptprt	C	T	2: 161,810,549		probably null	Het
Rbp3	A	T	14: 33,956,198	H701L	possibly damaging	Het
Rgl1	T	C	1: 152,675,023		probably benign	Het
Satb1	A	T	17: 51,782,701	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,498,979	Y769F	probably damaging	Het
Senp7	A	G	16: 56,184,768	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,239,272	E90G	probably benign	Het
Slc15a3	A	G	19: 10,854,311	T350A	probably benign	Het
Socs5	T	C	17: 87,134,195	C188R	probably damaging	Het
Tacr1	A	G	6: 82,403,742	T45A	probably benign	Het
Th	A	G	7: 142,897,008	V117A	probably benign	Het
Thpo	C	A	16: 20,728,456	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,475,289		noncoding transcript	Het
Trpc4	A	G	3: 54,315,815	E724G	probably benign	Het
Ttn	T	C	2: 76,746,633	T24639A	probably damaging	Het
Ulk4	A	G	9: 121,044,838	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,717,447	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,541,195	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,447,670	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,231,615	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,493,556	R37L	probably benign	Het
Zfp512b	G	A	2: 181,588,436	T499I	probably damaging	Het
Zmym2	A	T	14: 56,920,730	K575N	probably benign	Het

Other mutations in Sh3rf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Sh3rf2	APN	18	42111218	missense	probably benign	0.00
IGL01012:Sh3rf2	APN	18	42054192	missense	possibly damaging	0.50
IGL01286:Sh3rf2	APN	18	42139611	critical splice donor site	probably null
IGL02369:Sh3rf2	APN	18	42156157	nonsense	probably null
IGL02563:Sh3rf2	APN	18	42156142	missense	probably damaging	0.99
BB004:Sh3rf2	UTSW	18	42111422	missense	probably benign
BB014:Sh3rf2	UTSW	18	42111422	missense	probably benign
PIT4445001:Sh3rf2	UTSW	18	42153164	missense	probably benign	0.00
R0141:Sh3rf2	UTSW	18	42156057	missense	probably benign	0.02
R0270:Sh3rf2	UTSW	18	42104081	missense	probably damaging	0.99
R1447:Sh3rf2	UTSW	18	42101671	missense	probably benign	0.00
R1491:Sh3rf2	UTSW	18	42053939	missense	probably damaging	0.99
R1539:Sh3rf2	UTSW	18	42149822	missense	probably damaging	1.00
R1749:Sh3rf2	UTSW	18	42153294	missense	probably damaging	1.00
R1864:Sh3rf2	UTSW	18	42053981	missense	probably damaging	0.99
R1942:Sh3rf2	UTSW	18	42149624	missense	probably damaging	1.00
R1998:Sh3rf2	UTSW	18	42141083	missense	probably damaging	0.99
R2331:Sh3rf2	UTSW	18	42053863	missense	probably benign	0.04
R2680:Sh3rf2	UTSW	18	42101650	missense	probably damaging	0.98
R2938:Sh3rf2	UTSW	18	42149724	missense	probably benign	0.09
R2940:Sh3rf2	UTSW	18	42111440	critical splice donor site	probably null
R3753:Sh3rf2	UTSW	18	42111308	missense	probably damaging	1.00
R3861:Sh3rf2	UTSW	18	42153319	missense	probably damaging	1.00
R4322:Sh3rf2	UTSW	18	42111399	missense	probably damaging	1.00
R5076:Sh3rf2	UTSW	18	42053924	missense	probably damaging	1.00
R5169:Sh3rf2	UTSW	18	42153061	missense	probably benign	0.00
R5228:Sh3rf2	UTSW	18	42153181	missense	possibly damaging	0.69
R5437:Sh3rf2	UTSW	18	42141014	missense	probably benign	0.44
R5792:Sh3rf2	UTSW	18	42111138	missense	probably damaging	0.99
R5820:Sh3rf2	UTSW	18	42141047	missense	possibly damaging	0.94
R6159:Sh3rf2	UTSW	18	42156135	missense	probably damaging	0.96
R6366:Sh3rf2	UTSW	18	42153065	missense	probably benign	0.00
R6640:Sh3rf2	UTSW	18	42101640	missense	probably damaging	1.00
R6897:Sh3rf2	UTSW	18	42101605	missense	possibly damaging	0.91
R6995:Sh3rf2	UTSW	18	42101541	missense	probably damaging	1.00
R7097:Sh3rf2	UTSW	18	42104162	splice site	probably null
R7122:Sh3rf2	UTSW	18	42104162	splice site	probably null
R7432:Sh3rf2	UTSW	18	42054026	missense	probably damaging	0.99
R7444:Sh3rf2	UTSW	18	42101539	missense	probably damaging	1.00
R7654:Sh3rf2	UTSW	18	42104108	missense	probably damaging	1.00
R7703:Sh3rf2	UTSW	18	42156136	missense	probably benign	0.04
R7732:Sh3rf2	UTSW	18	42101688	missense	probably damaging	1.00
R7835:Sh3rf2	UTSW	18	42111170	missense	probably benign	0.25
R7927:Sh3rf2	UTSW	18	42111422	missense	probably benign
R8053:Sh3rf2	UTSW	18	42153022	missense	probably damaging	1.00
R8144:Sh3rf2	UTSW	18	42141059	missense	probably benign	0.01
R8343:Sh3rf2	UTSW	18	42111428	missense	probably damaging	0.99
R9145:Sh3rf2	UTSW	18	42149681	missense
R9328:Sh3rf2	UTSW	18	42141096	missense	probably benign	0.08
R9570:Sh3rf2	UTSW	18	42139555	missense	possibly damaging	0.75
R9668:Sh3rf2	UTSW	18	42111282	missense	probably benign	0.31
R9676:Sh3rf2	UTSW	18	42149795	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCCTTGCAGCCAAACGTCTCG -3'
(R):5'- CCAGGCAGTCAGCATCCAATAGTG -3'

Sequencing Primer
(F):5'- GCCAAACGTCTCGGCAAG -3'
(R):5'- CATCCAATAGTGCTTAGGACGTG -3'

Posted On

2014-04-24