Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Sh3rf2'

605943

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

MMRRC Submission

045889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42053667-42158960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42111170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 266 (R266S)

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: R266S

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: R266S

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: R234S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: R234S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,099,875	S1465T	probably benign	Het
Accsl	T	A	2: 93,865,984	K90*	probably null	Het
Adamts3	A	T	5: 89,700,440	D674E	possibly damaging	Het
Adap2	T	A	11: 80,160,231	V129D	probably benign	Het
Ank3	A	G	10: 69,987,727	D742G		Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C330021F23Rik	A	G	8: 3,580,452		probably benign	Het
Cachd1	G	T	4: 100,974,153		probably null	Het
Ccne1	G	T	7: 38,102,845	Q133K	probably benign	Het
Cers3	C	T	7: 66,773,639	H111Y	possibly damaging	Het
Chst5	A	T	8: 111,890,602	L129M	probably damaging	Het
Depdc7	A	G	2: 104,728,185	S164P	probably benign	Het
Dnah10	G	A	5: 124,777,234	A1966T	probably damaging	Het
Fam208a	G	T	14: 27,476,643	G1311C	probably damaging	Het
Fcgbp	T	G	7: 28,117,207	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,946,366	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558	V201A	possibly damaging	Het
Kif13b	T	A	14: 64,767,452	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,655,296		probably null	Het
Lrp4	T	C	2: 91,495,042	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,568,572	T110S	probably benign	Het
Mrpl19	G	A	6: 81,962,126	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Mzt1	T	C	14: 99,046,003	T21A	probably benign	Het
Naip6	G	T	13: 100,316,004	A183E	probably benign	Het
Neb	T	C	2: 52,150,577	D6624G	probably benign	Het
Nup85	A	G	11: 115,570,071	D183G	probably benign	Het
Olfm5	A	T	7: 104,154,445	Y195*	probably null	Het
Olfr828	T	A	9: 18,815,809	M162L	probably benign	Het
Piezo2	A	T	18: 63,082,945	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Polr1a	T	C	6: 71,915,142	V135A	probably benign	Het
Ppcdc	A	G	9: 57,420,276	S83P	probably benign	Het
Prss21	A	T	17: 23,869,451	Q130L	possibly damaging	Het
Rdx	T	A	9: 52,065,788	N112K	probably damaging	Het
Rgs22	A	G	15: 36,081,911		probably null	Het
Rps26	C	T	10: 128,626,126	V40I	probably benign	Het
Runx2	A	T	17: 44,608,236	M405K	probably damaging	Het
Serinc2	A	C	4: 130,275,487	C4G	unknown	Het
Slc38a10	A	G	11: 120,116,996	I386T	possibly damaging	Het
Stab2	G	A	10: 86,872,619	P1694L	probably benign	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tmem102	A	G	11: 69,804,345	V267A	probably damaging	Het
Trim65	A	G	11: 116,130,929	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,871,954	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,221,139	H221L	probably benign	Het
Wdr89	C	A	12: 75,632,899	V194F	probably damaging	Het
Wee1	C	A	7: 110,130,878	Y396*	probably null	Het
Zfp451	A	T	1: 33,772,979	V885D	probably damaging	Het
Zfp981	A	T	4: 146,537,876	Q419H	probably benign	Het
Znfx1	A	G	2: 167,039,827	Y1081H	probably damaging	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
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
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'- AAATGCATGTCCACTCTGTCTC -3'
(R):5'- TGGTGGCCTTCAGGAGAATG -3'

Sequencing Primer
(F):5'- CAGCTTTTACTGACCAAAGGG -3'
(R):5'- CCTTCAGGAGAATGGACTGTAC -3'

Posted On

2019-12-20