Mutagenetix > Incidental Mutation

Incidental Mutation 'R5640:Sh3rf3'

440617

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf3

Ensembl Gene

ENSMUSG00000037990

Gene Name

SH3 domain containing ring finger 3

Synonyms

Sh3md4, 4831416G18Rik

MMRRC Submission

043289-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58813359-59138916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58813947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 125 (S125G)

Ref Sequence

ENSEMBL: ENSMUSP00000120938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135526] [ENSMUST00000153031]

AlphaFold

Q8C120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133151

Predicted Effect

probably benign
Transcript: ENSMUST00000135526
AA Change: S125G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: S125G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
RING	52	92	2.76e-7	SMART
low complexity region	119	152	N/A	INTRINSIC
low complexity region	161	170	N/A	INTRINSIC
SH3	190	245	8.24e-18	SMART
SH3	252	311	5.56e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153031
AA Change: S125G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: S125G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
RING	52	92	2.76e-7	SMART
low complexity region	119	152	N/A	INTRINSIC
low complexity region	161	170	N/A	INTRINSIC
SH3	190	245	8.24e-18	SMART
SH3	252	311	5.56e-15	SMART
SH3	461	518	1.43e-17	SMART
low complexity region	707	739	N/A	INTRINSIC
SH3	822	878	5.19e-15	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,970,685	Y220C	probably damaging	Het
Actl6a	A	G	3: 32,718,050	T170A	probably damaging	Het
Adamts8	T	C	9: 30,956,500	V540A	probably benign	Het
Aga	T	C	8: 53,511,884	L27P	probably damaging	Het
Agmat	T	A	4: 141,755,823	H189Q	probably damaging	Het
Alx3	C	A	3: 107,600,661	T162K	probably damaging	Het
Armc2	T	A	10: 42,011,898	I30L	possibly damaging	Het
Arntl	C	T	7: 113,308,681	P530L	probably damaging	Het
Atp10d	T	G	5: 72,247,209	Y487D	probably damaging	Het
Atp13a4	C	T	16: 29,415,831	M908I	probably damaging	Het
B4galt2	T	G	4: 117,873,998	N322T	probably benign	Het
Brdt	A	T	5: 107,359,308	K525*	probably null	Het
Ces3a	T	A	8: 105,051,745	M246K	probably benign	Het
Chd9	T	A	8: 91,036,562	H2338Q	probably damaging	Het
Cyp3a16	T	A	5: 145,452,823	D244V	possibly damaging	Het
Dhrs9	C	A	2: 69,394,478	A170E	probably damaging	Het
Dlg5	T	C	14: 24,170,461	N550D	probably damaging	Het
Dnah8	C	T	17: 30,803,108	T3894I	probably damaging	Het
Dpys	T	C	15: 39,842,066	H217R	probably damaging	Het
Dpysl2	C	T	14: 66,834,368	V108I	probably benign	Het
Eprs	A	G	1: 185,374,184	T199A	probably benign	Het
Fads1	A	G	19: 10,186,403	D183G	probably damaging	Het
Fam110b	T	G	4: 5,798,689	Y36D	probably damaging	Het
Fbxl21	G	A	13: 56,537,381	D407N	probably benign	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gm8251	T	C	1: 44,061,927	I4V	probably benign	Het
Gnas	C	A	2: 174,284,971	R100S	probably benign	Het
Gse1	A	G	8: 120,562,677	H90R	possibly damaging	Het
Hoxc10	G	T	15: 102,967,267	C137F	probably benign	Het
Ipp	T	G	4: 116,520,689	L252R	possibly damaging	Het
Jmjd1c	T	A	10: 67,226,078	S1403R	probably benign	Het
Kif19a	A	G	11: 114,779,215	M79V	probably benign	Het
Lipo4	T	C	19: 33,501,586	T285A	possibly damaging	Het
Lrrc66	A	T	5: 73,608,634	D355E	probably benign	Het
Lrsam1	T	A	2: 32,945,852	Q301L	probably benign	Het
Med6	C	T	12: 81,581,854	R138Q	probably damaging	Het
Nlrc5	A	G	8: 94,475,793	T174A	probably benign	Het
Nrbp1	C	T	5: 31,249,585	R322W	possibly damaging	Het
Olfr1256	T	A	2: 89,835,938	E2D	probably benign	Het
Olfr1338	T	A	4: 118,753,789	T250S	probably benign	Het
Olfr739	C	A	14: 50,424,654	A45D	probably benign	Het
Pde3a	A	G	6: 141,483,915	E734G	probably damaging	Het
Pnpla7	C	T	2: 25,003,001	T167I	possibly damaging	Het
Pop7	T	C	5: 137,502,059	N4S	possibly damaging	Het
Ppm1h	C	A	10: 122,782,278	P114Q	probably benign	Het
Prdm16	T	C	4: 154,341,910	T473A	probably benign	Het
Prdm6	T	C	18: 53,536,741		probably null	Het
Prkdc	T	G	16: 15,829,769	W3686G	possibly damaging	Het
Ptchd4	C	A	17: 42,503,135	H642Q	possibly damaging	Het
Rad1	A	G	15: 10,495,923	Y228C	possibly damaging	Het
Rgs22	G	A	15: 36,106,955	T56I	probably benign	Het
Rnf135	C	A	11: 80,193,907	H169N	probably benign	Het
Rnft1	C	T	11: 86,486,493	Q128*	probably null	Het
Sez6	T	C	11: 77,973,759		probably benign	Het
Sik2	T	C	9: 50,915,506	E295G	possibly damaging	Het
Themis	A	G	10: 28,863,376	Q614R	probably damaging	Het
Thsd7b	T	A	1: 130,116,671	C1129*	probably null	Het
Tmem68	A	T	4: 3,569,512	F59L	probably benign	Het
Tmem8	C	T	17: 26,118,872	T410I	possibly damaging	Het
Vmn2r107	A	G	17: 20,375,164	T660A	probably damaging	Het
Vwa5b2	G	T	16: 20,597,542	C484F	probably damaging	Het
Zfp418	T	A	7: 7,181,981	C314*	probably null	Het

Other mutations in Sh3rf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Sh3rf3	APN	10	59049356	missense	probably benign	0.06
IGL01898:Sh3rf3	APN	10	59049530	missense	probably damaging	0.99
IGL02108:Sh3rf3	APN	10	59135828	missense	probably damaging	1.00
IGL02148:Sh3rf3	APN	10	59086740	missense	probably benign	0.02
exasperated	UTSW	10	59086824	missense	probably benign	0.06
strained	UTSW	10	59007103	missense	probably damaging	1.00
R0421:Sh3rf3	UTSW	10	58984075	missense	probably damaging	1.00
R1056:Sh3rf3	UTSW	10	59007082	missense	probably damaging	1.00
R1313:Sh3rf3	UTSW	10	59071999	missense	possibly damaging	0.92
R1313:Sh3rf3	UTSW	10	59071999	missense	possibly damaging	0.92
R1615:Sh3rf3	UTSW	10	59131077	missense	probably benign	0.02
R1797:Sh3rf3	UTSW	10	59086667	nonsense	probably null
R1869:Sh3rf3	UTSW	10	59083513	missense	probably damaging	1.00
R1924:Sh3rf3	UTSW	10	59104167	splice site	probably benign
R1968:Sh3rf3	UTSW	10	58813987	missense	probably benign	0.32
R2353:Sh3rf3	UTSW	10	59007073	missense	probably damaging	1.00
R3617:Sh3rf3	UTSW	10	59086863	missense	possibly damaging	0.83
R3769:Sh3rf3	UTSW	10	58984191	missense	probably benign	0.07
R4059:Sh3rf3	UTSW	10	59083533	missense	probably damaging	1.00
R4425:Sh3rf3	UTSW	10	59083576	missense	probably benign	0.00
R4690:Sh3rf3	UTSW	10	58813704	missense	possibly damaging	0.93
R4832:Sh3rf3	UTSW	10	58814083	missense	probably benign	0.19
R4853:Sh3rf3	UTSW	10	59083519	missense	probably damaging	1.00
R4854:Sh3rf3	UTSW	10	58813723	missense	possibly damaging	0.93
R4917:Sh3rf3	UTSW	10	59007103	missense	probably damaging	1.00
R4918:Sh3rf3	UTSW	10	59007103	missense	probably damaging	1.00
R4995:Sh3rf3	UTSW	10	59086824	missense	probably benign	0.06
R5125:Sh3rf3	UTSW	10	59131190	missense	probably benign	0.14
R5716:Sh3rf3	UTSW	10	59131283	missense	probably benign	0.03
R5756:Sh3rf3	UTSW	10	59104382	missense	probably damaging	0.98
R5848:Sh3rf3	UTSW	10	58984153	missense	possibly damaging	0.54
R5908:Sh3rf3	UTSW	10	59049448	missense	probably benign	0.32
R5930:Sh3rf3	UTSW	10	59130986	missense	probably damaging	1.00
R6036:Sh3rf3	UTSW	10	58813984	missense	probably benign	0.19
R6036:Sh3rf3	UTSW	10	58813984	missense	probably benign	0.19
R6392:Sh3rf3	UTSW	10	59007076	missense	probably damaging	0.97
R6450:Sh3rf3	UTSW	10	58984144	missense	probably damaging	1.00
R6470:Sh3rf3	UTSW	10	58983969	missense	probably damaging	1.00
R6639:Sh3rf3	UTSW	10	59083467	missense	probably damaging	1.00
R6685:Sh3rf3	UTSW	10	59086841	missense	possibly damaging	0.95
R7292:Sh3rf3	UTSW	10	59071973	missense	probably damaging	1.00
R7789:Sh3rf3	UTSW	10	59086815	missense	probably benign	0.01
R7941:Sh3rf3	UTSW	10	59007061	missense	probably damaging	0.99
R7959:Sh3rf3	UTSW	10	59007103	missense	probably damaging	1.00
R8140:Sh3rf3	UTSW	10	59049355	missense	possibly damaging	0.88
R8142:Sh3rf3	UTSW	10	59049383	nonsense	probably null
R8241:Sh3rf3	UTSW	10	59104420	missense	probably benign	0.11
R8406:Sh3rf3	UTSW	10	59083585	missense	probably damaging	1.00
R8725:Sh3rf3	UTSW	10	59104170	critical splice acceptor site	probably null
R8727:Sh3rf3	UTSW	10	59104170	critical splice acceptor site	probably null
R9341:Sh3rf3	UTSW	10	59130980	missense	probably damaging	0.99
R9343:Sh3rf3	UTSW	10	59130980	missense	probably damaging	0.99
RF020:Sh3rf3	UTSW	10	58813768	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACACTACGGCCAAGGTGTTG -3'
(R):5'- CGCCATGTCACTGGGATACATTC -3'

Sequencing Primer
(F):5'- AAGGTGTTGCCATGCCAG -3'
(R):5'- GGGATACATTCTTACCTTAGCCACTG -3'

Posted On

2016-11-08