Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Sh3rf2'

428453

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

MMRRC Submission

043002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42053667-42158960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42141014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 415 (Y415F)

Ref Sequence

ENSEMBL: ENSMUSP00000071896 (fasta)

Gene Model

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

AlphaFold

Q8BZT2

PDB Structure

Solution structure of the SH3 domain of the mouse hypothetical protein SH3RF2 [SOLUTION NMR]
The solution structure of the first SH3 domain of mouse SH3 domain containing ring finger 2 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000072008
AA Change: Y415F

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: Y415F

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 benign
Transcript: ENSMUST00000074679
AA Change: Y383F

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: Y383F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132681

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	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
R1595:Sh3rf2	UTSW	18	42111288	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
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'- TCCGCCTTCCATGGTTAAG -3'
(R):5'- GTGAAGGCAAAAGTTATTACTTGGC -3'

Sequencing Primer
(F):5'- TGCTGGCAGGTGAGCTACAG -3'
(R):5'- TGGCTTGTACTCTGAAAAAGACACG -3'

Posted On

2016-09-01