Mutagenetix > Incidental Mutation

Incidental Mutation 'R5820:Sh3rf2'

449903

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

MMRRC Submission

043400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42186732-42292025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42274112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 426 (L426P)

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

possibly damaging
Transcript: ENSMUST00000072008
AA Change: L426P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: L426P

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

possibly damaging
Transcript: ENSMUST00000074679
AA Change: L394P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: L394P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132681

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,841,607 (GRCm39)	Y596H	probably benign	Het
Adgrg3	A	T	8: 95,766,221 (GRCm39)	M351L	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef38	A	T	3: 132,866,560 (GRCm39)	D192E	probably benign	Het
Arhgef40	T	C	14: 52,224,953 (GRCm39)	F33L	possibly damaging	Het
Arid1b	A	G	17: 5,046,529 (GRCm39)	Y439C	possibly damaging	Het
Bltp1	T	C	3: 37,093,675 (GRCm39)	V875A	probably benign	Het
Bop1	G	A	15: 76,339,041 (GRCm39)	P386S	probably damaging	Het
Cacna1s	A	G	1: 136,007,342 (GRCm39)	H453R	probably damaging	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Chfr	T	A	5: 110,310,605 (GRCm39)	D475E	possibly damaging	Het
Clcn7	A	C	17: 25,368,026 (GRCm39)	K208T	probably damaging	Het
Cmya5	G	T	13: 93,229,288 (GRCm39)	N1933K	probably benign	Het
CN725425	A	G	15: 91,144,900 (GRCm39)	T588A	possibly damaging	Het
Cwh43	G	A	5: 73,585,975 (GRCm39)	W358*	probably null	Het
Cyfip2	A	T	11: 46,091,531 (GRCm39)	W1130R	probably damaging	Het
Ddx60	A	T	8: 62,409,155 (GRCm39)	D397V	possibly damaging	Het
Disp1	T	C	1: 182,917,151 (GRCm39)	S92G	probably benign	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Ecscr	C	A	18: 35,850,320 (GRCm39)	V52F	possibly damaging	Het
Epha7	A	T	4: 28,949,365 (GRCm39)	N712I	probably damaging	Het
Eva1a	C	T	6: 82,048,154 (GRCm39)	P11S	probably benign	Het
Fam187b	T	C	7: 30,676,577 (GRCm39)	C29R	probably damaging	Het
Fau	T	C	19: 6,109,452 (GRCm39)	V117A	probably benign	Het
Fbxw11	A	G	11: 32,685,374 (GRCm39)	D369G	probably damaging	Het
Fkbp15	A	G	4: 62,263,783 (GRCm39)	F95L	probably benign	Het
Fkbp6	A	T	5: 135,368,774 (GRCm39)		probably null	Het
Fmo9	T	C	1: 166,492,170 (GRCm39)	K367E	possibly damaging	Het
Gad2	T	C	2: 22,580,261 (GRCm39)	V554A	probably benign	Het
Gm18025	T	C	12: 34,340,631 (GRCm39)	D154G	probably benign	Het
Gm4353	A	G	7: 115,683,693 (GRCm39)	F34S	possibly damaging	Het
Gucy2e	A	G	11: 69,123,522 (GRCm39)	I459T	probably benign	Het
Hpx	A	G	7: 105,240,995 (GRCm39)	I426T	possibly damaging	Het
Hspa9	T	C	18: 35,076,227 (GRCm39)	T362A	possibly damaging	Het
Insr	G	A	8: 3,205,976 (GRCm39)	P1271L	probably damaging	Het
Jarid2	G	A	13: 45,055,777 (GRCm39)	V328I	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif18b	A	G	11: 102,803,874 (GRCm39)	S429P	probably benign	Het
Lats1	A	T	10: 7,581,672 (GRCm39)	H819L	probably damaging	Het
Lmnb1	T	A	18: 56,873,858 (GRCm39)	D421E	possibly damaging	Het
Lrp4	T	C	2: 91,322,960 (GRCm39)	I1148T	probably damaging	Het
Map1b	T	A	13: 99,569,332 (GRCm39)	M1130L	unknown	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Myh6	T	C	14: 55,196,137 (GRCm39)	Y554C	probably damaging	Het
Myl4	T	C	11: 104,474,806 (GRCm39)	F52L	probably damaging	Het
Nol12	C	T	15: 78,824,680 (GRCm39)	T169I	probably benign	Het
Nrde2	C	T	12: 100,098,546 (GRCm39)	R707H	probably benign	Het
Oasl1	G	A	5: 115,075,037 (GRCm39)	V366M	possibly damaging	Het
Or8b47	T	C	9: 38,435,895 (GRCm39)	I289T	possibly damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polrmt	C	T	10: 79,574,157 (GRCm39)		probably null	Het
Ppil4	A	G	10: 7,686,174 (GRCm39)	D344G	probably null	Het
Ppp2r3d	C	T	9: 124,422,765 (GRCm38)	A69T	possibly damaging	Het
Prmt3	C	T	7: 49,498,554 (GRCm39)	P487S	probably damaging	Het
Ptprm	A	T	17: 66,996,460 (GRCm39)	L1209H	probably damaging	Het
Rnf115	G	A	3: 96,635,164 (GRCm39)		probably benign	Het
Sec63	A	G	10: 42,672,241 (GRCm39)	D185G	possibly damaging	Het
Sema4b	T	C	7: 79,874,706 (GRCm39)	S699P	probably damaging	Het
Serpinb3d	T	G	1: 107,006,089 (GRCm39)	E333A	probably damaging	Het
Slco6d1	A	G	1: 98,427,503 (GRCm39)	I611M	probably damaging	Het
Stk31	T	A	6: 49,394,219 (GRCm39)	Y194N	probably damaging	Het
Tlr9	G	A	9: 106,099,906 (GRCm39)		probably null	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Vmn1r188	G	A	13: 22,272,256 (GRCm39)	G70D	possibly damaging	Het
Zfp318	A	G	17: 46,723,699 (GRCm39)	M1901V	probably benign	Het
Zfp407	A	T	18: 84,578,649 (GRCm39)	D821E	probably benign	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
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
R7444:Sh3rf2	UTSW	18	42,234,604 (GRCm39)	missense	probably damaging	1.00
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'- GATCTCCTCAGGCATGTTCTG -3'
(R):5'- AGCATGGCCAGGGTATTAAATG -3'

Sequencing Primer
(F):5'- GCTTCCTTCACCAGATCCTTGTG -3'
(R):5'- TAAATACACGGTGAGACCTCTG -3'

Posted On

2016-12-20