Mutagenetix > Incidental Mutation

Incidental Mutation 'R2331:Sh3rf2'

245887

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2331 (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 42186928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 16 (F16L)

Ref Sequence

ENSEMBL: ENSMUSP00000074247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072008] [ENSMUST00000074679]

AlphaFold

Q8BZT2

Predicted Effect

probably benign
Transcript: ENSMUST00000072008
AA Change: F16L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: F16L

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 benign
Transcript: ENSMUST00000074679
AA Change: F16L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: F16L

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	C	T	1: 38,243,971 (GRCm39)		probably null	Het
Cadps	A	G	14: 12,603,692 (GRCm38)	I376T	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Gm10295	A	C	7: 71,000,437 (GRCm39)	S48A	unknown	Het
Gstcd	A	G	3: 132,704,641 (GRCm39)	C538R	probably damaging	Het
Hcn3	A	T	3: 89,055,397 (GRCm39)	S617T	probably benign	Het
Hectd4	A	G	5: 121,458,089 (GRCm39)	I752V	probably benign	Het
Itgb7	G	T	15: 102,131,983 (GRCm39)	T200K	probably damaging	Het
Lcn11	C	A	2: 25,670,188 (GRCm39)	T177K	possibly damaging	Het
Lsm14a	A	G	7: 34,056,915 (GRCm39)	V241A	probably benign	Het
Magi1	T	C	6: 93,662,543 (GRCm39)	K1075E	probably damaging	Het
Or4c111	T	C	2: 88,844,265 (GRCm39)	I48V	probably benign	Het
Or4d10c	C	A	19: 12,065,522 (GRCm39)	L211F	probably benign	Het
P4hb	T	C	11: 120,459,106 (GRCm39)	N129S	probably benign	Het
Piezo1	C	T	8: 123,214,005 (GRCm39)		probably null	Het
Ppp3ca	T	C	3: 136,503,580 (GRCm39)	M51T	probably benign	Het
Sema6d	T	C	2: 124,499,983 (GRCm39)	V353A	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Sparcl1	A	G	5: 104,233,660 (GRCm39)	L563P	probably damaging	Het
Stra6l	T	C	4: 45,858,224 (GRCm39)		probably null	Het
Sult2a6	A	T	7: 13,959,795 (GRCm39)	M246K	possibly damaging	Het
Trpv5	A	G	6: 41,636,902 (GRCm39)	S399P	probably damaging	Het
Uggt2	A	T	14: 119,264,011 (GRCm39)	F1006L	possibly damaging	Het
Uhrf1	C	A	17: 56,617,671 (GRCm39)		probably null	Het
Wdr72	A	G	9: 74,055,608 (GRCm39)	Y279C	probably damaging	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
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
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'- CCTCCTTTCAAACAGGCAGG -3'
(R):5'- TTGTCCTGCAAGGTCAGTATC -3'

Sequencing Primer
(F):5'- CCTTTCAAACAGGCAGGGAGTTC -3'
(R):5'- AAGGTCAGTATCCGAGGCCTTC -3'

Posted On

2014-10-30