Mutagenetix > Incidental Mutation

Incidental Mutation 'R7444:Sh3rf2'

577197

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

MMRRC Submission

045520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42186732-42292025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42234604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 129 (R129Q)

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 damaging
Transcript: ENSMUST00000072008
AA Change: R129Q

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

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: R129Q

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: R129Q

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

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: R129Q

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,984,787 (GRCm39)	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,745,831 (GRCm39)	Q1673L		Het
Atic	G	T	1: 71,602,946 (GRCm39)	V107L	probably benign	Het
B2m	A	G	2: 121,981,416 (GRCm39)	N44D	probably damaging	Het
Bud13	A	G	9: 46,209,799 (GRCm39)	D636G	probably damaging	Het
Cenpk	T	C	13: 104,386,025 (GRCm39)	*307Q	probably null	Het
Cep68	A	G	11: 20,189,438 (GRCm39)	S525P	probably benign	Het
Clca3a1	A	G	3: 144,733,193 (GRCm39)	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,220,079 (GRCm39)	M630L	probably benign	Het
Cpb2	A	G	14: 75,520,782 (GRCm39)	Y399C	probably damaging	Het
Dars2	G	T	1: 160,874,454 (GRCm39)	P412T	possibly damaging	Het
E2f8	A	T	7: 48,517,927 (GRCm39)	I665N	probably damaging	Het
Epha4	A	T	1: 77,364,553 (GRCm39)	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 57,938,079 (GRCm39)		probably benign	Het
Flrt3	T	C	2: 140,502,387 (GRCm39)	T414A	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fosb	T	C	7: 19,041,199 (GRCm39)	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,680,850 (GRCm39)	L174S	probably damaging	Het
Hectd3	T	A	4: 116,854,124 (GRCm39)	V258E	possibly damaging	Het
Inf2	T	A	12: 112,571,821 (GRCm39)	W617R	unknown	Het
Irf7	T	A	7: 140,843,599 (GRCm39)	I358F	probably damaging	Het
Lipo3	A	G	19: 33,535,663 (GRCm39)		probably null	Het
Lrig2	A	T	3: 104,404,829 (GRCm39)	L93*	probably null	Het
Lzts1	C	T	8: 69,588,331 (GRCm39)	V542M	probably damaging	Het
Mefv	T	A	16: 3,533,386 (GRCm39)	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nat8f6	G	C	6: 85,786,112 (GRCm39)	S12R	probably benign	Het
Nipal4	G	T	11: 46,057,062 (GRCm39)	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,095,595 (GRCm39)	C824*	probably null	Het
Npat	T	C	9: 53,460,210 (GRCm39)	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,477,464 (GRCm39)	E549G	probably damaging	Het
Or10a5	T	C	7: 106,635,554 (GRCm39)	L64P	probably damaging	Het
Or12e8	T	A	2: 87,188,444 (GRCm39)	L219I	possibly damaging	Het
Or1r1	T	C	11: 73,874,576 (GRCm39)	N286S	probably damaging	Het
Or4a80	T	C	2: 89,583,103 (GRCm39)	K23R	probably benign	Het
Or4f62	A	T	2: 111,987,060 (GRCm39)	I255F	probably damaging	Het
Or5p55	T	A	7: 107,566,811 (GRCm39)	V69E	probably damaging	Het
Or6c6b	T	C	10: 129,147,559 (GRCm39)	M61T	probably benign	Het
Or6z6	C	A	7: 6,490,919 (GRCm39)	W311L	probably benign	Het
Pcdhb11	T	A	18: 37,555,672 (GRCm39)	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,442,505 (GRCm39)	L605P	probably damaging	Het
Pced1a	G	T	2: 130,263,979 (GRCm39)	H224Q	probably damaging	Het
Pde6b	C	A	5: 108,575,008 (GRCm39)	S623*	probably null	Het
Pgr	T	C	9: 8,946,883 (GRCm39)	L708P	probably damaging	Het
Pnpla1	T	C	17: 29,097,455 (GRCm39)	I207T	possibly damaging	Het
Prkag3	A	T	1: 74,786,425 (GRCm39)	D173E	probably benign	Het
Prrt4	A	G	6: 29,176,516 (GRCm39)	F270L	probably benign	Het
Ptdss2	C	A	7: 140,732,997 (GRCm39)	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,354,435 (GRCm39)	N309I	probably damaging	Het
Rgs12	T	C	5: 35,183,287 (GRCm39)	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,348,125 (GRCm39)	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,133,326 (GRCm39)	P7S	probably damaging	Het
Rnf24	T	C	2: 131,155,215 (GRCm39)	D4G	probably damaging	Het
Ryr2	T	A	13: 11,570,349 (GRCm39)	I4925L	probably benign	Het
S1pr5	A	T	9: 21,156,378 (GRCm39)	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,443,566 (GRCm39)	D75G	possibly damaging	Het
Setdb2	A	T	14: 59,660,794 (GRCm39)	C116*	probably null	Het
Spata31d1d	C	T	13: 59,875,007 (GRCm39)	V843I	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Tecrl	T	A	5: 83,502,915 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,590 (GRCm39)	S2007T	possibly damaging	Het
Tomm7	C	A	5: 24,049,155 (GRCm39)		probably benign	Het
Trpv1	A	C	11: 73,135,030 (GRCm39)	N409T	possibly damaging	Het
Try5	T	A	6: 41,288,299 (GRCm39)	Y218F	probably benign	Het
Tspan5	A	T	3: 138,603,883 (GRCm39)	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,489,405 (GRCm39)	C709*	probably null	Het

Other mutations in Sh3rf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Sh3rf2	APN	18	42,244,283 (GRCm39)	missense	probably benign	0.00
IGL01012:Sh3rf2	APN	18	42,187,257 (GRCm39)	missense	possibly damaging	0.50
IGL01286:Sh3rf2	APN	18	42,272,676 (GRCm39)	critical splice donor site	probably null
IGL02369:Sh3rf2	APN	18	42,289,222 (GRCm39)	nonsense	probably null
IGL02563:Sh3rf2	APN	18	42,289,207 (GRCm39)	missense	probably damaging	0.99
BB004:Sh3rf2	UTSW	18	42,244,487 (GRCm39)	missense	probably benign
BB014:Sh3rf2	UTSW	18	42,244,487 (GRCm39)	missense	probably benign
PIT4445001:Sh3rf2	UTSW	18	42,286,229 (GRCm39)	missense	probably benign	0.00
R0141:Sh3rf2	UTSW	18	42,289,122 (GRCm39)	missense	probably benign	0.02
R0270:Sh3rf2	UTSW	18	42,237,146 (GRCm39)	missense	probably damaging	0.99
R1447:Sh3rf2	UTSW	18	42,234,736 (GRCm39)	missense	probably benign	0.00
R1491:Sh3rf2	UTSW	18	42,187,004 (GRCm39)	missense	probably damaging	0.99
R1539:Sh3rf2	UTSW	18	42,282,887 (GRCm39)	missense	probably damaging	1.00
R1595:Sh3rf2	UTSW	18	42,244,353 (GRCm39)	missense	probably damaging	1.00
R1749:Sh3rf2	UTSW	18	42,286,359 (GRCm39)	missense	probably damaging	1.00
R1864:Sh3rf2	UTSW	18	42,187,046 (GRCm39)	missense	probably damaging	0.99
R1942:Sh3rf2	UTSW	18	42,282,689 (GRCm39)	missense	probably damaging	1.00
R1998:Sh3rf2	UTSW	18	42,274,148 (GRCm39)	missense	probably damaging	0.99
R2331:Sh3rf2	UTSW	18	42,186,928 (GRCm39)	missense	probably benign	0.04
R2680:Sh3rf2	UTSW	18	42,234,715 (GRCm39)	missense	probably damaging	0.98
R2938:Sh3rf2	UTSW	18	42,282,789 (GRCm39)	missense	probably benign	0.09
R2940:Sh3rf2	UTSW	18	42,244,505 (GRCm39)	critical splice donor site	probably null
R3753:Sh3rf2	UTSW	18	42,244,373 (GRCm39)	missense	probably damaging	1.00
R3861:Sh3rf2	UTSW	18	42,286,384 (GRCm39)	missense	probably damaging	1.00
R4322:Sh3rf2	UTSW	18	42,244,464 (GRCm39)	missense	probably damaging	1.00
R5076:Sh3rf2	UTSW	18	42,186,989 (GRCm39)	missense	probably damaging	1.00
R5169:Sh3rf2	UTSW	18	42,286,126 (GRCm39)	missense	probably benign	0.00
R5228:Sh3rf2	UTSW	18	42,286,246 (GRCm39)	missense	possibly damaging	0.69
R5437:Sh3rf2	UTSW	18	42,274,079 (GRCm39)	missense	probably benign	0.44
R5792:Sh3rf2	UTSW	18	42,244,203 (GRCm39)	missense	probably damaging	0.99
R5820:Sh3rf2	UTSW	18	42,274,112 (GRCm39)	missense	possibly damaging	0.94
R6159:Sh3rf2	UTSW	18	42,289,200 (GRCm39)	missense	probably damaging	0.96
R6366:Sh3rf2	UTSW	18	42,286,130 (GRCm39)	missense	probably benign	0.00
R6640:Sh3rf2	UTSW	18	42,234,705 (GRCm39)	missense	probably damaging	1.00
R6897:Sh3rf2	UTSW	18	42,234,670 (GRCm39)	missense	possibly damaging	0.91
R6995:Sh3rf2	UTSW	18	42,234,606 (GRCm39)	missense	probably damaging	1.00
R7097:Sh3rf2	UTSW	18	42,237,227 (GRCm39)	splice site	probably null
R7122:Sh3rf2	UTSW	18	42,237,227 (GRCm39)	splice site	probably null
R7432:Sh3rf2	UTSW	18	42,187,091 (GRCm39)	missense	probably damaging	0.99
R7654:Sh3rf2	UTSW	18	42,237,173 (GRCm39)	missense	probably damaging	1.00
R7703:Sh3rf2	UTSW	18	42,289,201 (GRCm39)	missense	probably benign	0.04
R7732:Sh3rf2	UTSW	18	42,234,753 (GRCm39)	missense	probably damaging	1.00
R7835:Sh3rf2	UTSW	18	42,244,235 (GRCm39)	missense	probably benign	0.25
R7927:Sh3rf2	UTSW	18	42,244,487 (GRCm39)	missense	probably benign
R8053:Sh3rf2	UTSW	18	42,286,087 (GRCm39)	missense	probably damaging	1.00
R8144:Sh3rf2	UTSW	18	42,274,124 (GRCm39)	missense	probably benign	0.01
R8343:Sh3rf2	UTSW	18	42,244,493 (GRCm39)	missense	probably damaging	0.99
R9145:Sh3rf2	UTSW	18	42,282,746 (GRCm39)	missense
R9328:Sh3rf2	UTSW	18	42,274,161 (GRCm39)	missense	probably benign	0.08
R9570:Sh3rf2	UTSW	18	42,272,620 (GRCm39)	missense	possibly damaging	0.75
R9668:Sh3rf2	UTSW	18	42,244,347 (GRCm39)	missense	probably benign	0.31
R9676:Sh3rf2	UTSW	18	42,282,860 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGAACAATCAACTATAGCCA -3'
(R):5'- GCAGCTGTTTGATGACTTCCA -3'

Sequencing Primer
(F):5'- CAACAGTTGGTTATCCAGTGCCAG -3'
(R):5'- TGATGACTTCCACAGAGCTG -3'

Posted On

2019-10-07