Mutagenetix > Incidental Mutation

Incidental Mutation 'R2967:Sh3rf1'

263289

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf1

Ensembl Gene

ENSMUSG00000031642

Gene Name

SH3 domain containing ring finger 1

Synonyms

Posh, Sh3md2, 2200003J05Rik

MMRRC Submission

040523-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R2967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61676906-61849105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61679321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 121 (P121L)

Ref Sequence

ENSEMBL: ENSMUSP00000148118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034060] [ENSMUST00000209611]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034060
AA Change: P121L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: P121L

Domain	Start	End	E-Value	Type
RING	12	52	5.3e-9	SMART
low complexity region	83	90	N/A	INTRINSIC
SH3	137	192	1.67e-18	SMART
SH3	199	258	4.84e-15	SMART
low complexity region	366	376	N/A	INTRINSIC
low complexity region	397	405	N/A	INTRINSIC
low complexity region	417	430	N/A	INTRINSIC
SH3	454	511	7.92e-20	SMART
low complexity region	558	569	N/A	INTRINSIC
low complexity region	638	651	N/A	INTRINSIC
low complexity region	700	734	N/A	INTRINSIC
SH3	835	891	1.47e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209611
AA Change: P121L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,304,131 (GRCm39)	S185G	possibly damaging	Het
Adgra1	G	A	7: 139,455,601 (GRCm39)	E410K	possibly damaging	Het
Aox1	A	T	1: 58,361,993 (GRCm39)	N733I	probably damaging	Het
Bola3	T	A	6: 83,326,280 (GRCm39)	Y24N	probably benign	Het
Cntn6	G	A	6: 104,703,198 (GRCm39)	V135I	probably benign	Het
Eif2s3y	A	T	Y: 1,020,030 (GRCm39)	M353L	probably benign	Het
Ercc8	C	A	13: 108,297,248 (GRCm39)	P53T	probably damaging	Het
Gan	A	G	8: 117,910,265 (GRCm39)	K65E	probably damaging	Het
Gm1110	T	C	9: 26,792,339 (GRCm39)	E597G	probably benign	Het
Gsdmc4	T	A	15: 63,773,909 (GRCm39)	H81L	probably benign	Het
Hs2st1	T	A	3: 144,170,899 (GRCm39)	N91I	probably damaging	Het
Or1e31	A	G	11: 73,689,933 (GRCm39)	S217P	possibly damaging	Het
Or7a41	A	T	10: 78,870,887 (GRCm39)	I86F	probably damaging	Het
Pgr	T	C	9: 8,901,819 (GRCm39)	S451P	possibly damaging	Het
Pira13	T	A	7: 3,825,686 (GRCm39)	R394S	probably damaging	Het
Pwp2	A	G	10: 78,018,532 (GRCm39)	L84S	possibly damaging	Het
Rab1a	T	A	11: 20,173,068 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,824,915 (GRCm39)	S388P	probably benign	Het
Sybu	T	C	15: 44,609,752 (GRCm39)	K172R	probably damaging	Het
Topbp1	C	T	9: 103,219,339 (GRCm39)	A1197V	probably benign	Het
Ttf1	T	A	2: 28,955,395 (GRCm39)	V253D	possibly damaging	Het
Ugt2a2	A	T	5: 87,622,488 (GRCm39)	V160E	probably damaging	Het
Vmn1r81	G	T	7: 11,993,964 (GRCm39)	Q215K	probably damaging	Het
Zfp653	A	G	9: 21,977,026 (GRCm39)	L147P	probably damaging	Het

Other mutations in Sh3rf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Sh3rf1	APN	8	61,782,370 (GRCm39)	missense	probably damaging	1.00
IGL01071:Sh3rf1	APN	8	61,678,993 (GRCm39)	missense	probably damaging	1.00
IGL01485:Sh3rf1	APN	8	61,782,365 (GRCm39)	missense	possibly damaging	0.79
IGL01587:Sh3rf1	APN	8	61,679,092 (GRCm39)	missense	probably damaging	0.99
IGL02412:Sh3rf1	APN	8	61,825,723 (GRCm39)	missense	probably benign	0.35
IGL02649:Sh3rf1	APN	8	61,816,225 (GRCm39)	missense	probably damaging	1.00
limpid	UTSW	8	61,782,292 (GRCm39)	missense	probably damaging	1.00
Mac	UTSW	8	61,814,807 (GRCm39)	critical splice donor site	probably null
Moki	UTSW	8	61,837,860 (GRCm39)	missense	probably benign	0.17
IGL02835:Sh3rf1	UTSW	8	61,679,081 (GRCm39)	missense	probably damaging	1.00
R0009:Sh3rf1	UTSW	8	61,679,327 (GRCm39)	missense	probably damaging	0.97
R0016:Sh3rf1	UTSW	8	61,827,172 (GRCm39)	missense	probably benign	0.18
R0040:Sh3rf1	UTSW	8	61,782,286 (GRCm39)	missense	possibly damaging	0.96
R0040:Sh3rf1	UTSW	8	61,782,286 (GRCm39)	missense	possibly damaging	0.96
R0278:Sh3rf1	UTSW	8	61,827,052 (GRCm39)	missense	probably damaging	1.00
R0395:Sh3rf1	UTSW	8	61,846,696 (GRCm39)	splice site	probably benign
R0733:Sh3rf1	UTSW	8	61,825,594 (GRCm39)	missense	probably benign	0.00
R0790:Sh3rf1	UTSW	8	61,782,292 (GRCm39)	missense	probably damaging	1.00
R1028:Sh3rf1	UTSW	8	61,846,821 (GRCm39)	missense	possibly damaging	0.94
R1569:Sh3rf1	UTSW	8	61,837,896 (GRCm39)	missense	probably damaging	1.00
R1654:Sh3rf1	UTSW	8	61,814,779 (GRCm39)	missense	possibly damaging	0.92
R1799:Sh3rf1	UTSW	8	61,825,661 (GRCm39)	missense	probably damaging	0.99
R1960:Sh3rf1	UTSW	8	61,837,897 (GRCm39)	missense	probably damaging	1.00
R2181:Sh3rf1	UTSW	8	61,816,272 (GRCm39)	missense	probably damaging	0.98
R2184:Sh3rf1	UTSW	8	61,825,688 (GRCm39)	missense	probably damaging	0.99
R2330:Sh3rf1	UTSW	8	61,679,321 (GRCm39)	missense	probably benign	0.01
R2331:Sh3rf1	UTSW	8	61,679,321 (GRCm39)	missense	probably benign	0.01
R2332:Sh3rf1	UTSW	8	61,679,321 (GRCm39)	missense	probably benign	0.01
R2994:Sh3rf1	UTSW	8	61,825,609 (GRCm39)	missense	probably benign	0.10
R3159:Sh3rf1	UTSW	8	61,679,321 (GRCm39)	missense	probably benign	0.01
R3195:Sh3rf1	UTSW	8	61,679,321 (GRCm39)	missense	probably benign	0.01
R3196:Sh3rf1	UTSW	8	61,679,321 (GRCm39)	missense	probably benign	0.01
R3724:Sh3rf1	UTSW	8	61,825,756 (GRCm39)	missense	probably benign
R4692:Sh3rf1	UTSW	8	61,806,888 (GRCm39)	splice site	probably null
R4712:Sh3rf1	UTSW	8	61,814,793 (GRCm39)	missense	probably benign	0.00
R5214:Sh3rf1	UTSW	8	61,825,765 (GRCm39)	missense	probably damaging	0.98
R5409:Sh3rf1	UTSW	8	61,827,279 (GRCm39)	missense	probably benign	0.01
R5590:Sh3rf1	UTSW	8	61,814,766 (GRCm39)	missense	probably benign	0.11
R5651:Sh3rf1	UTSW	8	61,816,201 (GRCm39)	missense	probably damaging	1.00
R6976:Sh3rf1	UTSW	8	61,814,766 (GRCm39)	nonsense	probably null
R7126:Sh3rf1	UTSW	8	61,802,458 (GRCm39)	missense	probably benign	0.01
R7154:Sh3rf1	UTSW	8	61,825,748 (GRCm39)	missense	possibly damaging	0.89
R7625:Sh3rf1	UTSW	8	61,825,756 (GRCm39)	missense	probably benign
R7747:Sh3rf1	UTSW	8	61,806,787 (GRCm39)	missense	probably damaging	0.97
R8217:Sh3rf1	UTSW	8	61,782,964 (GRCm39)	missense	possibly damaging	0.95
R8705:Sh3rf1	UTSW	8	61,802,591 (GRCm39)	missense	probably damaging	1.00
R8711:Sh3rf1	UTSW	8	61,783,030 (GRCm39)	missense	probably damaging	1.00
R8735:Sh3rf1	UTSW	8	61,825,687 (GRCm39)	missense	probably benign	0.30
R8969:Sh3rf1	UTSW	8	61,837,860 (GRCm39)	missense	probably benign	0.17
R9015:Sh3rf1	UTSW	8	61,827,202 (GRCm39)	missense	probably benign	0.00
R9085:Sh3rf1	UTSW	8	61,802,493 (GRCm39)	missense	probably benign	0.00
R9089:Sh3rf1	UTSW	8	61,825,613 (GRCm39)	missense	probably benign	0.01
R9188:Sh3rf1	UTSW	8	61,814,807 (GRCm39)	critical splice donor site	probably null
R9259:Sh3rf1	UTSW	8	61,806,838 (GRCm39)	missense	probably benign	0.05
R9568:Sh3rf1	UTSW	8	61,825,585 (GRCm39)	missense	probably benign	0.03
R9688:Sh3rf1	UTSW	8	61,679,348 (GRCm39)	missense	probably benign	0.13
X0066:Sh3rf1	UTSW	8	61,679,231 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGCCGGACTCTTGTTGG -3'
(R):5'- GTCGGATCCAGTCTTATTTCAAG -3'

Sequencing Primer
(F):5'- GTCGACGAGCTCCCCAGTAAC -3'
(R):5'- TTTCAAGAGAAAATAAGGTCCTAAGG -3'

Posted On

2015-02-05