Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01286:Sh3rf2'

72739

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01286

Quality Score

Status

Chromosome

Chromosomal Location

42186732-42292025 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 42272676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074247 (fasta)

Gene Model

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

AlphaFold

Q8BZT2

Predicted Effect

probably null
Transcript: ENSMUST00000072008

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719

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 null
Transcript: ENSMUST00000074679

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,629,578 (GRCm39)	C214S	possibly damaging	Het
Ankrd26	A	T	6: 118,536,068 (GRCm39)	V122E	probably damaging	Het
Blnk	T	C	19: 40,922,950 (GRCm39)	K389R	probably benign	Het
Cdcp3	A	T	7: 130,848,432 (GRCm39)	N862I	probably damaging	Het
Cdh11	T	A	8: 103,391,261 (GRCm39)	Q325L	probably damaging	Het
Cep112	T	C	11: 108,750,235 (GRCm39)		probably null	Het
Cmtr2	T	A	8: 110,949,484 (GRCm39)	I598N	possibly damaging	Het
Col1a2	A	C	6: 4,533,891 (GRCm39)	E857D	unknown	Het
Col2a1	G	A	15: 97,892,759 (GRCm39)	P237L	unknown	Het
Commd2	G	A	3: 57,558,143 (GRCm39)	T66M	probably benign	Het
Cyp2c50	A	T	19: 40,080,728 (GRCm39)	K241N	probably benign	Het
Fbxo2	A	G	4: 148,250,163 (GRCm39)	N231S	probably benign	Het
Grm5	T	C	7: 87,251,773 (GRCm39)	S8P	probably benign	Het
Ip6k1	A	G	9: 107,923,082 (GRCm39)	T405A	probably benign	Het
Kel	G	T	6: 41,665,051 (GRCm39)		probably null	Het
Lin54	T	C	5: 100,633,466 (GRCm39)	T73A	probably benign	Het
Nek1	T	A	8: 61,577,250 (GRCm39)	V1052D	possibly damaging	Het
Or4p22	T	A	2: 88,317,592 (GRCm39)	I172K	probably damaging	Het
Or6c6	T	A	10: 129,186,519 (GRCm39)	L29H	probably damaging	Het
Pcid2	T	C	8: 13,140,660 (GRCm39)	D155G	probably damaging	Het
Ptchd1	T	C	X: 154,357,820 (GRCm39)	T462A	possibly damaging	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Rfc2	T	C	5: 134,618,243 (GRCm39)	L82P	probably damaging	Het
Sis	A	T	3: 72,848,358 (GRCm39)	W639R	probably damaging	Het
Tbcd	T	C	11: 121,384,719 (GRCm39)		probably null	Het
Tert	G	A	13: 73,776,416 (GRCm39)	R389H	possibly damaging	Het
Tns3	C	T	11: 8,442,617 (GRCm39)	S582N	probably benign	Het
Tssk2	C	T	16: 17,716,822 (GRCm39)	T75I	probably benign	Het
Txnl4a	C	T	18: 80,261,956 (GRCm39)	T64I	probably benign	Het
Xpot	T	C	10: 121,438,243 (GRCm39)	D782G	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
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
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

Posted On

2013-10-07