Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Sh3rf1'

682943

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf1

Ensembl Gene

ENSMUSG00000031642

Gene Name

SH3 domain containing ring finger 1

Synonyms

Posh, Sh3md2, 2200003J05Rik

MMRRC Submission

068803-MU

Accession Numbers

Essential gene?

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

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61676906-61849105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 61837860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 802 (T802P)

Ref Sequence

ENSEMBL: ENSMUSP00000034060 (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: T802P

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: T802P

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: T802P

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,227,944 (GRCm39)	N662K	probably benign	Het
Acp7	G	A	7: 28,307,382 (GRCm39)	R492W	probably damaging	Het
Adam33	C	T	2: 130,894,994 (GRCm39)	G688D	probably damaging	Het
Ak3	T	G	19: 29,025,094 (GRCm39)	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,547,790 (GRCm39)	T417A	probably benign	Het
Ambp	C	T	4: 63,072,328 (GRCm39)		probably benign	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Ash1l	T	C	3: 88,873,598 (GRCm39)	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,592,832 (GRCm39)	A524T	probably benign	Het
Btbd10	A	T	7: 112,925,162 (GRCm39)	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,924,553 (GRCm39)	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,739 (GRCm39)	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522 (GRCm39)	D501E	probably benign	Het
Chrnb2	A	G	3: 89,664,532 (GRCm39)	F461L	probably damaging	Het
Clic1	T	C	17: 35,274,386 (GRCm39)		probably null	Het
Cmah	A	G	13: 24,606,636 (GRCm39)	Y89C	probably damaging	Het
Crkl	A	G	16: 17,286,918 (GRCm39)	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,049,630 (GRCm39)	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,344,682 (GRCm39)	Y142S	probably damaging	Het
Decr2	T	A	17: 26,306,355 (GRCm39)	M94L	probably benign	Het
Dspp	A	T	5: 104,325,640 (GRCm39)	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723 (GRCm39)	R1708G	probably damaging	Het
Eno3	T	A	11: 70,551,691 (GRCm39)	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,891,604 (GRCm39)	L386*	probably null	Het
Gm5114	C	A	7: 39,058,732 (GRCm39)	V296F	probably damaging	Het
Hc	A	G	2: 34,909,475 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,879,581 (GRCm39)	V679A	probably benign	Het
Ifnar2	T	C	16: 91,201,060 (GRCm39)	F434L	probably benign	Het
Isl1	A	G	13: 116,439,857 (GRCm39)	S164P	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,967,116 (GRCm39)	Y621*	probably null	Het
Kif2b	T	C	11: 91,468,019 (GRCm39)	H88R	probably benign	Het
Kit	G	A	5: 75,799,722 (GRCm39)	V485I		Het
Klhl36	T	C	8: 120,596,887 (GRCm39)	L196P	probably damaging	Het
Klk1b27	T	A	7: 43,703,932 (GRCm39)	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,519,387 (GRCm39)	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,278,434 (GRCm39)	N242Y	probably damaging	Het
Krt36	T	A	11: 99,993,129 (GRCm39)	I449F	probably damaging	Het
Med27	G	T	2: 29,236,875 (GRCm39)	V7F	possibly damaging	Het
Mettl25b	G	A	3: 87,837,282 (GRCm39)		probably benign	Het
Mxd1	C	T	6: 86,628,466 (GRCm39)	V145M	probably benign	Het
Mylip	T	A	13: 45,544,820 (GRCm39)	F81L	probably damaging	Het
Nceh1	T	A	3: 27,276,885 (GRCm39)	F69L	probably null	Het
Ndufs3	A	T	2: 90,732,773 (GRCm39)	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,716,473 (GRCm39)	V46G	unknown	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Or51f1e	T	G	7: 102,747,251 (GRCm39)	I101S	probably damaging	Het
Or5as1	T	A	2: 86,980,928 (GRCm39)	M26L	probably benign	Het
Or5m10b	A	G	2: 85,699,832 (GRCm39)	N299D	probably benign	Het
Palld	T	A	8: 62,137,883 (GRCm39)	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,399,214 (GRCm39)	L343R	probably damaging	Het
Pclo	T	A	5: 14,572,208 (GRCm39)	I531N	unknown	Het
Phip	T	C	9: 82,809,017 (GRCm39)		probably benign	Het
Phldb2	A	T	16: 45,592,496 (GRCm39)		probably null	Het
Ppp2r5e	G	T	12: 75,500,492 (GRCm39)	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,880,431 (GRCm39)	I97M	probably benign	Het
Ptpn21	T	A	12: 98,655,284 (GRCm39)	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079 (GRCm39)	H121Q	possibly damaging	Het
Sec1	A	G	7: 45,328,897 (GRCm39)	F50S	possibly damaging	Het
Sec62	A	G	3: 30,873,024 (GRCm39)	E369G	unknown	Het
Serpinb2	A	T	1: 107,452,390 (GRCm39)	I323F	probably damaging	Het
Srd5a3	A	G	5: 76,301,493 (GRCm39)	R241G	probably benign	Het
Suox	T	C	10: 128,507,542 (GRCm39)	N162S	probably benign	Het
Tenm2	C	T	11: 35,942,688 (GRCm39)	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,738,370 (GRCm39)	D86G	probably damaging	Het
Tmc1	G	A	19: 20,793,593 (GRCm39)	R523C	probably damaging	Het
Tmprss11e	T	A	5: 86,861,758 (GRCm39)	I263L	possibly damaging	Het
Tmtc4	T	C	14: 123,179,224 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,192,173 (GRCm39)	N171I	unknown	Het
Trpm3	A	G	19: 22,903,308 (GRCm39)	S1035G	probably damaging	Het
U2af1	C	T	17: 31,867,854 (GRCm39)	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,233,447 (GRCm39)	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,313,853 (GRCm39)	T154A	probably benign	Het
Xrn2	T	C	2: 146,871,304 (GRCm39)	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,318,677 (GRCm39)	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,775,555 (GRCm39)	S269L	probably benign	Het
Zfp735	T	A	11: 73,602,699 (GRCm39)	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,137,130 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,888,588 (GRCm39)	D832E	possibly 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
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
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'- CATCACCTACCCTGGATGTG -3'
(R):5'- ACCAATCAGGCTTGAGAGTTTAGG -3'

Sequencing Primer
(F):5'- CTACCCTGGATGTGGAGCTG -3'
(R):5'- GGACGTTGTAGAAAATGACCTTC -3'

Posted On

2021-10-11