Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Sh3rf2'

694605

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42053667-42158960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42149681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 467 (S467T)

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

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: S467T

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: S435T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: S435T

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: 99.1%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly 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
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
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'- GCTACATTCATTTGAGGAAGCTG -3'
(R):5'- GTTGGAAGCCCCATTGTCAG -3'

Sequencing Primer
(F):5'- AGAGGACTCTTGACTGAAC -3'
(R):5'- GAAGCCCCATTGTCAGCCCTAG -3'

Posted On

2022-01-20