Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00596:Sh3rf3'

14007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3rf3

Ensembl Gene

ENSMUSG00000037990

Gene Name

SH3 domain containing ring finger 3

Synonyms

Sh3md4, 4831416G18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL00596

Quality Score

Status

Chromosome

Chromosomal Location

58649181-58974738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58885178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 354 (S354G)

Ref Sequence

ENSEMBL: ENSMUSP00000120938 (fasta)

Gene Model

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

AlphaFold

Q8C120

Predicted Effect

probably benign
Transcript: ENSMUST00000135526
AA Change: S354G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: S354G

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: S354G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: S354G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,547,030 (GRCm39)	N366K	probably damaging	Het
Adgrl3	G	A	5: 81,794,314 (GRCm39)	R445Q	probably benign	Het
Cc2d1b	T	C	4: 108,484,503 (GRCm39)	I446T	probably damaging	Het
Cdhr2	A	T	13: 54,868,810 (GRCm39)	N591Y	probably damaging	Het
Cntnap5b	A	G	1: 100,306,886 (GRCm39)	R868G	possibly damaging	Het
Dkk2	A	T	3: 131,879,564 (GRCm39)	D81V	probably damaging	Het
Dsg1c	T	A	18: 20,414,899 (GRCm39)		probably benign	Het
Dym	T	A	18: 75,252,320 (GRCm39)	V362D	probably benign	Het
Epm2a	A	T	10: 11,324,384 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,510,688 (GRCm39)	A773S	possibly damaging	Het
Iars2	A	G	1: 185,048,151 (GRCm39)	V527A	probably benign	Het
Kcnj16	T	C	11: 110,915,349 (GRCm39)	Y4H	probably damaging	Het
Krt6a	T	A	15: 101,602,665 (GRCm39)	I7F	possibly damaging	Het
Myo6	T	G	9: 80,189,025 (GRCm39)	F757V	possibly damaging	Het
Nbeal1	T	C	1: 60,220,900 (GRCm39)	L13P	probably damaging	Het
Nr2c2	A	T	6: 92,126,700 (GRCm39)	K63M	probably damaging	Het
Pcdh15	G	A	10: 74,466,576 (GRCm39)	G1511D	probably benign	Het
Pomgnt2	A	T	9: 121,812,191 (GRCm39)	W197R	probably benign	Het
Rint1	G	A	5: 24,016,863 (GRCm39)	V543M	probably damaging	Het
Rnd2	G	A	11: 101,362,017 (GRCm39)	R190H	possibly damaging	Het
Slc10a2	T	C	8: 5,141,680 (GRCm39)	I235V	probably benign	Het
Steap4	G	A	5: 8,026,979 (GRCm39)	R314H	probably damaging	Het
Ticrr	A	C	7: 79,327,041 (GRCm39)	N583T	probably damaging	Het
Tmem25	T	A	9: 44,706,816 (GRCm39)		probably benign	Het
Vps8	C	T	16: 21,267,162 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,345,226 (GRCm39)	K2489R	probably benign	Het
Xlr4b	T	A	X: 72,263,577 (GRCm39)		probably benign	Het

Other mutations in Sh3rf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Sh3rf3	APN	10	58,885,352 (GRCm39)	missense	probably damaging	0.99
IGL02108:Sh3rf3	APN	10	58,971,650 (GRCm39)	missense	probably damaging	1.00
IGL02148:Sh3rf3	APN	10	58,922,562 (GRCm39)	missense	probably benign	0.02
exasperated	UTSW	10	58,922,646 (GRCm39)	missense	probably benign	0.06
strained	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R0421:Sh3rf3	UTSW	10	58,819,897 (GRCm39)	missense	probably damaging	1.00
R1056:Sh3rf3	UTSW	10	58,842,904 (GRCm39)	missense	probably damaging	1.00
R1313:Sh3rf3	UTSW	10	58,907,821 (GRCm39)	missense	possibly damaging	0.92
R1313:Sh3rf3	UTSW	10	58,907,821 (GRCm39)	missense	possibly damaging	0.92
R1615:Sh3rf3	UTSW	10	58,966,899 (GRCm39)	missense	probably benign	0.02
R1797:Sh3rf3	UTSW	10	58,922,489 (GRCm39)	nonsense	probably null
R1869:Sh3rf3	UTSW	10	58,919,335 (GRCm39)	missense	probably damaging	1.00
R1924:Sh3rf3	UTSW	10	58,939,989 (GRCm39)	splice site	probably benign
R1968:Sh3rf3	UTSW	10	58,649,809 (GRCm39)	missense	probably benign	0.32
R2353:Sh3rf3	UTSW	10	58,842,895 (GRCm39)	missense	probably damaging	1.00
R3617:Sh3rf3	UTSW	10	58,922,685 (GRCm39)	missense	possibly damaging	0.83
R3769:Sh3rf3	UTSW	10	58,820,013 (GRCm39)	missense	probably benign	0.07
R4059:Sh3rf3	UTSW	10	58,919,355 (GRCm39)	missense	probably damaging	1.00
R4425:Sh3rf3	UTSW	10	58,919,398 (GRCm39)	missense	probably benign	0.00
R4690:Sh3rf3	UTSW	10	58,649,526 (GRCm39)	missense	possibly damaging	0.93
R4832:Sh3rf3	UTSW	10	58,649,905 (GRCm39)	missense	probably benign	0.19
R4853:Sh3rf3	UTSW	10	58,919,341 (GRCm39)	missense	probably damaging	1.00
R4854:Sh3rf3	UTSW	10	58,649,545 (GRCm39)	missense	possibly damaging	0.93
R4917:Sh3rf3	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R4918:Sh3rf3	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R4995:Sh3rf3	UTSW	10	58,922,646 (GRCm39)	missense	probably benign	0.06
R5125:Sh3rf3	UTSW	10	58,967,012 (GRCm39)	missense	probably benign	0.14
R5640:Sh3rf3	UTSW	10	58,649,769 (GRCm39)	missense	probably benign
R5716:Sh3rf3	UTSW	10	58,967,105 (GRCm39)	missense	probably benign	0.03
R5756:Sh3rf3	UTSW	10	58,940,204 (GRCm39)	missense	probably damaging	0.98
R5848:Sh3rf3	UTSW	10	58,819,975 (GRCm39)	missense	possibly damaging	0.54
R5908:Sh3rf3	UTSW	10	58,885,270 (GRCm39)	missense	probably benign	0.32
R5930:Sh3rf3	UTSW	10	58,966,808 (GRCm39)	missense	probably damaging	1.00
R6036:Sh3rf3	UTSW	10	58,649,806 (GRCm39)	missense	probably benign	0.19
R6036:Sh3rf3	UTSW	10	58,649,806 (GRCm39)	missense	probably benign	0.19
R6392:Sh3rf3	UTSW	10	58,842,898 (GRCm39)	missense	probably damaging	0.97
R6450:Sh3rf3	UTSW	10	58,819,966 (GRCm39)	missense	probably damaging	1.00
R6470:Sh3rf3	UTSW	10	58,819,791 (GRCm39)	missense	probably damaging	1.00
R6639:Sh3rf3	UTSW	10	58,919,289 (GRCm39)	missense	probably damaging	1.00
R6685:Sh3rf3	UTSW	10	58,922,663 (GRCm39)	missense	possibly damaging	0.95
R7292:Sh3rf3	UTSW	10	58,907,795 (GRCm39)	missense	probably damaging	1.00
R7789:Sh3rf3	UTSW	10	58,922,637 (GRCm39)	missense	probably benign	0.01
R7941:Sh3rf3	UTSW	10	58,842,883 (GRCm39)	missense	probably damaging	0.99
R7959:Sh3rf3	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R8140:Sh3rf3	UTSW	10	58,885,177 (GRCm39)	missense	possibly damaging	0.88
R8142:Sh3rf3	UTSW	10	58,885,205 (GRCm39)	nonsense	probably null
R8241:Sh3rf3	UTSW	10	58,940,242 (GRCm39)	missense	probably benign	0.11
R8406:Sh3rf3	UTSW	10	58,919,407 (GRCm39)	missense	probably damaging	1.00
R8725:Sh3rf3	UTSW	10	58,939,992 (GRCm39)	critical splice acceptor site	probably null
R8727:Sh3rf3	UTSW	10	58,939,992 (GRCm39)	critical splice acceptor site	probably null
R9341:Sh3rf3	UTSW	10	58,966,802 (GRCm39)	missense	probably damaging	0.99
R9343:Sh3rf3	UTSW	10	58,966,802 (GRCm39)	missense	probably damaging	0.99
RF020:Sh3rf3	UTSW	10	58,649,590 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06