Mutagenetix > Incidental Mutation

Incidental Mutation 'R2331:Sh3rf1'

245875

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf1

Ensembl Gene

ENSMUSG00000031642

Gene Name

SH3 domain containing ring finger 1

Synonyms

Posh, Sh3md2, 2200003J05Rik

Accession Numbers

Essential gene?

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

Stock #

R2331 (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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.4%

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: 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
Sh3rf2	T	C	18: 42,186,928 (GRCm39)	F16L	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 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
R2332:Sh3rf1	UTSW	8	61,679,321 (GRCm39)	missense	probably benign	0.01
R2967: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'- GAATGCCGGACTCTTGTTGG -3'
(R):5'- TCGGATCCAGTCTTATTTCAAGAG -3'

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

Posted On

2014-10-30