Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Sh3rf3'

479221

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf3

Ensembl Gene

ENSMUSG00000037990

Gene Name

SH3 domain containing ring finger 3

Synonyms

Sh3md4, 4831416G18Rik

MMRRC Submission

043257-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R6036 (G1)

Quality Score

128.008

Status

Not validated

Chromosome

Chromosomal Location

58813359-59138916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58813984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 137 (G137D)

Ref Sequence

ENSEMBL: ENSMUSP00000120938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135526] [ENSMUST00000153031]

AlphaFold

Q8C120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133151

Predicted Effect

probably benign
Transcript: ENSMUST00000135526
AA Change: G137D

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: G137D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
RING	52	92	2.76e-7	SMART
low complexity region	119	152	N/A	INTRINSIC
low complexity region	161	170	N/A	INTRINSIC
SH3	190	245	8.24e-18	SMART
SH3	252	311	5.56e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153031
AA Change: G137D

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: G137D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
RING	52	92	2.76e-7	SMART
low complexity region	119	152	N/A	INTRINSIC
low complexity region	161	170	N/A	INTRINSIC
SH3	190	245	8.24e-18	SMART
SH3	252	311	5.56e-15	SMART
SH3	461	518	1.43e-17	SMART
low complexity region	707	739	N/A	INTRINSIC
SH3	822	878	5.19e-15	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,832,858		probably benign	Het
Ago1	C	T	4: 126,443,228	R228H	probably damaging	Het
Alpk3	G	A	7: 81,093,257	V941M	probably benign	Het
Ano4	A	G	10: 88,982,265	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 44,098,831	Y464H	probably benign	Het
Barx2	A	T	9: 31,913,008	D28E	probably damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Col10a1	A	G	10: 34,395,282	T417A	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,239,420	S227P	probably damaging	Het
Erv3	G	A	2: 131,856,005	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,014,322	T591A	possibly damaging	Het
F5	A	T	1: 164,184,996	E493V	probably damaging	Het
Gm8444	G	T	15: 81,843,593		probably benign	Het
Gria4	T	A	9: 4,537,646	I221L	probably benign	Het
Hc	T	C	2: 35,039,684	T249A	probably benign	Het
Herc2	A	G	7: 56,068,053	T48A	probably benign	Het
Hist1h2bl	A	T	13: 21,715,978	S56T	probably damaging	Het
Hp	A	G	8: 109,576,774		probably null	Het
Ifna15	T	G	4: 88,558,073	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,397,125	M262L	probably benign	Het
Krt83	A	C	15: 101,487,531	I320S	possibly damaging	Het
Megf10	A	G	18: 57,242,727	N242D	probably damaging	Het
Nup155	A	G	15: 8,128,411	T451A	probably benign	Het
Olfr1277	C	T	2: 111,269,612	G252R	probably damaging	Het
Olfr1288	T	C	2: 111,478,988	L68P	probably damaging	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr701	A	T	7: 106,818,460	I126F	probably damaging	Het
Olfr930	A	G	9: 38,930,920	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,305,209	P403S	probably damaging	Het
Piezo2	G	A	18: 63,114,948	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618	E191G	possibly damaging	Het
Pou4f2	A	T	8: 78,435,474	S167T	probably damaging	Het
Scd4	G	A	19: 44,344,792	D319N	probably damaging	Het
Senp2	A	T	16: 22,028,558	R279*	probably null	Het
Simc1	C	T	13: 54,524,621	P261S	probably benign	Het
Slc26a1	T	A	5: 108,673,570	D151V	probably damaging	Het
Snx29	A	G	16: 11,738,437		probably null	Het
Stard9	C	T	2: 120,700,075	A2271V	probably benign	Het
Stat6	A	G	10: 127,655,444	N485D	possibly damaging	Het
Tpcn2	T	C	7: 145,268,869	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,711,366	I378V	possibly damaging	Het
Ttc29	A	G	8: 78,325,576	D362G	probably benign	Het
Ttll7	A	G	3: 146,940,162	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,086	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,633,903	Q87R	probably damaging	Het
Wdfy4	G	T	14: 33,146,990	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,963,568	Y521H	probably damaging	Het

Other mutations in Sh3rf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Sh3rf3	APN	10	59049356	missense	probably benign	0.06
IGL01898:Sh3rf3	APN	10	59049530	missense	probably damaging	0.99
IGL02108:Sh3rf3	APN	10	59135828	missense	probably damaging	1.00
IGL02148:Sh3rf3	APN	10	59086740	missense	probably benign	0.02
exasperated	UTSW	10	59086824	missense	probably benign	0.06
strained	UTSW	10	59007103	missense	probably damaging	1.00
R0421:Sh3rf3	UTSW	10	58984075	missense	probably damaging	1.00
R1056:Sh3rf3	UTSW	10	59007082	missense	probably damaging	1.00
R1313:Sh3rf3	UTSW	10	59071999	missense	possibly damaging	0.92
R1313:Sh3rf3	UTSW	10	59071999	missense	possibly damaging	0.92
R1615:Sh3rf3	UTSW	10	59131077	missense	probably benign	0.02
R1797:Sh3rf3	UTSW	10	59086667	nonsense	probably null
R1869:Sh3rf3	UTSW	10	59083513	missense	probably damaging	1.00
R1924:Sh3rf3	UTSW	10	59104167	splice site	probably benign
R1968:Sh3rf3	UTSW	10	58813987	missense	probably benign	0.32
R2353:Sh3rf3	UTSW	10	59007073	missense	probably damaging	1.00
R3617:Sh3rf3	UTSW	10	59086863	missense	possibly damaging	0.83
R3769:Sh3rf3	UTSW	10	58984191	missense	probably benign	0.07
R4059:Sh3rf3	UTSW	10	59083533	missense	probably damaging	1.00
R4425:Sh3rf3	UTSW	10	59083576	missense	probably benign	0.00
R4690:Sh3rf3	UTSW	10	58813704	missense	possibly damaging	0.93
R4832:Sh3rf3	UTSW	10	58814083	missense	probably benign	0.19
R4853:Sh3rf3	UTSW	10	59083519	missense	probably damaging	1.00
R4854:Sh3rf3	UTSW	10	58813723	missense	possibly damaging	0.93
R4917:Sh3rf3	UTSW	10	59007103	missense	probably damaging	1.00
R4918:Sh3rf3	UTSW	10	59007103	missense	probably damaging	1.00
R4995:Sh3rf3	UTSW	10	59086824	missense	probably benign	0.06
R5125:Sh3rf3	UTSW	10	59131190	missense	probably benign	0.14
R5640:Sh3rf3	UTSW	10	58813947	missense	probably benign
R5716:Sh3rf3	UTSW	10	59131283	missense	probably benign	0.03
R5756:Sh3rf3	UTSW	10	59104382	missense	probably damaging	0.98
R5848:Sh3rf3	UTSW	10	58984153	missense	possibly damaging	0.54
R5908:Sh3rf3	UTSW	10	59049448	missense	probably benign	0.32
R5930:Sh3rf3	UTSW	10	59130986	missense	probably damaging	1.00
R6036:Sh3rf3	UTSW	10	58813984	missense	probably benign	0.19
R6392:Sh3rf3	UTSW	10	59007076	missense	probably damaging	0.97
R6450:Sh3rf3	UTSW	10	58984144	missense	probably damaging	1.00
R6470:Sh3rf3	UTSW	10	58983969	missense	probably damaging	1.00
R6639:Sh3rf3	UTSW	10	59083467	missense	probably damaging	1.00
R6685:Sh3rf3	UTSW	10	59086841	missense	possibly damaging	0.95
R7292:Sh3rf3	UTSW	10	59071973	missense	probably damaging	1.00
R7789:Sh3rf3	UTSW	10	59086815	missense	probably benign	0.01
R7941:Sh3rf3	UTSW	10	59007061	missense	probably damaging	0.99
R7959:Sh3rf3	UTSW	10	59007103	missense	probably damaging	1.00
R8140:Sh3rf3	UTSW	10	59049355	missense	possibly damaging	0.88
R8142:Sh3rf3	UTSW	10	59049383	nonsense	probably null
R8241:Sh3rf3	UTSW	10	59104420	missense	probably benign	0.11
R8406:Sh3rf3	UTSW	10	59083585	missense	probably damaging	1.00
R8725:Sh3rf3	UTSW	10	59104170	critical splice acceptor site	probably null
R8727:Sh3rf3	UTSW	10	59104170	critical splice acceptor site	probably null
R9341:Sh3rf3	UTSW	10	59130980	missense	probably damaging	0.99
R9343:Sh3rf3	UTSW	10	59130980	missense	probably damaging	0.99
RF020:Sh3rf3	UTSW	10	58813768	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-06-26