Mutagenetix > Incidental Mutation

Incidental Mutation 'R5274:Rims3'

403809

Institutional Source

Beutler Lab

Gene Symbol

Rims3

Ensembl Gene

ENSMUSG00000032890

Gene Name

regulating synaptic membrane exocytosis 3

Synonyms

Nim3, A730060M23Rik, Rim3

MMRRC Submission

042837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120712013-120753776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120748571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 264 (D264G)

Ref Sequence

ENSEMBL: ENSMUSP00000130295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071093] [ENSMUST00000106283] [ENSMUST00000171363]

AlphaFold

Q80U57

Predicted Effect

probably damaging
Transcript: ENSMUST00000071093
AA Change: D264G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068178
Gene: ENSMUSG00000032890
AA Change: D264G

Domain	Start	End	E-Value	Type
low complexity region	33	42	N/A	INTRINSIC
C2	169	272	6.64e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106283
AA Change: D264G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101890
Gene: ENSMUSG00000032890
AA Change: D264G

Domain	Start	End	E-Value	Type
low complexity region	33	42	N/A	INTRINSIC
C2	169	272	6.64e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171363
AA Change: D264G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130295
Gene: ENSMUSG00000032890
AA Change: D264G

Domain	Start	End	E-Value	Type
low complexity region	33	42	N/A	INTRINSIC
C2	169	272	6.64e-12	SMART

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 98.0%
20x: 96.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice exhibit normal hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,092,856 (GRCm39)	R155H	probably benign	Het
Ace	T	C	11: 105,858,863 (GRCm39)	M19T	probably benign	Het
Agl	A	G	3: 116,566,135 (GRCm39)	L995P	probably damaging	Het
AY761185	T	C	8: 21,433,889 (GRCm39)	N90S	unknown	Het
Brca2	T	C	5: 150,463,154 (GRCm39)	S973P	probably benign	Het
Cacna1e	T	C	1: 154,576,250 (GRCm39)	T66A	probably damaging	Het
Cbarp	T	C	10: 79,967,649 (GRCm39)	S531G	possibly damaging	Het
Cby2	A	G	14: 75,820,666 (GRCm39)	V362A	probably benign	Het
Cd96	G	T	16: 45,890,066 (GRCm39)	T319K	possibly damaging	Het
Ceacam23	T	C	7: 17,649,642 (GRCm39)		probably null	Het
Chil5	A	C	3: 105,936,169 (GRCm39)	F41C	probably damaging	Het
Col24a1	A	C	3: 145,190,433 (GRCm39)	E1239D	probably benign	Het
Dip2b	A	G	15: 100,109,985 (GRCm39)	E1490G	possibly damaging	Het
Dync1li1	T	C	9: 114,544,273 (GRCm39)	V315A	possibly damaging	Het
Dync2h1	T	C	9: 7,116,540 (GRCm39)	S99G	probably benign	Het
Dynlt5	A	T	4: 102,859,768 (GRCm39)	T103S	possibly damaging	Het
E2f8	C	T	7: 48,516,925 (GRCm39)	R818H	probably damaging	Het
Eomes	T	C	9: 118,309,597 (GRCm39)	V250A	probably damaging	Het
Esyt3	T	C	9: 99,200,350 (GRCm39)	T615A	probably benign	Het
Fbxo38	A	T	18: 62,648,140 (GRCm39)	D799E	probably damaging	Het
Fdft1	A	G	14: 63,389,792 (GRCm39)	F288S	probably damaging	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gm4871	C	G	5: 144,967,180 (GRCm39)	E185Q	probably damaging	Het
Gm5901	C	A	7: 105,026,655 (GRCm39)	P141Q	probably damaging	Het
Herc1	T	A	9: 66,306,691 (GRCm39)	I933N	probably benign	Het
Ifih1	T	C	2: 62,442,062 (GRCm39)	Q385R	probably benign	Het
Ighmbp2	T	C	19: 3,315,518 (GRCm39)	E634G	probably damaging	Het
Klk6	C	G	7: 43,478,553 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,752,111 (GRCm39)		probably benign	Het
Lig3	T	A	11: 82,688,118 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 41,234,456 (GRCm39)	D310G	probably null	Het
Mroh6	A	G	15: 75,756,849 (GRCm39)	V571A	possibly damaging	Het
Olfm5	A	G	7: 103,809,190 (GRCm39)	S132P	probably damaging	Het
Or52n20	T	C	7: 104,320,733 (GRCm39)	S275P	probably damaging	Het
Or5p64	A	T	7: 107,854,842 (GRCm39)	F168I	probably benign	Het
Pacc1	T	C	1: 191,080,665 (GRCm39)	V295A	probably damaging	Het
Patj	G	C	4: 98,407,218 (GRCm39)	S4T	probably damaging	Het
Pcdhga12	T	A	18: 37,899,475 (GRCm39)	C102*	probably null	Het
Pik3ap1	T	C	19: 41,270,391 (GRCm39)	D766G	possibly damaging	Het
Plch2	A	T	4: 155,083,411 (GRCm39)	L408Q	probably damaging	Het
Pnma2	G	T	14: 67,154,209 (GRCm39)	R211L	probably damaging	Het
Prkg2	T	A	5: 99,117,850 (GRCm39)	H468L	probably damaging	Het
Rad1	T	A	15: 10,488,059 (GRCm39)		probably null	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rrm2	T	A	12: 24,760,406 (GRCm39)	Y75*	probably null	Het
Sall3	T	C	18: 81,013,052 (GRCm39)	N1128S	probably benign	Het
Slc26a5	T	C	5: 22,018,899 (GRCm39)	T610A	possibly damaging	Het
Snx29	G	T	16: 11,556,268 (GRCm39)	E766D	probably damaging	Het
Sox17	A	G	1: 4,562,111 (GRCm39)	V298A	possibly damaging	Het
Ss18	G	A	18: 14,774,106 (GRCm39)	Q228*	probably null	Het
Tas2r121	A	G	6: 132,677,811 (GRCm39)	S54P	probably damaging	Het
Ttc21b	T	C	2: 66,066,627 (GRCm39)	E342G	possibly damaging	Het
Ubap2l	A	G	3: 89,920,037 (GRCm39)	Y818H	probably damaging	Het
Usp15	C	A	10: 123,004,256 (GRCm39)	R166I	probably damaging	Het
Vmn1r34	T	G	6: 66,614,123 (GRCm39)	H205P	probably damaging	Het
Vmn2r22	A	T	6: 123,627,593 (GRCm39)	M1K	probably null	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zdhhc1	T	C	8: 106,210,402 (GRCm39)	N5S	probably benign	Het
Zfp758	T	A	17: 22,594,836 (GRCm39)	C441S	probably benign	Het
Zp2	T	C	7: 119,737,315 (GRCm39)	E291G	possibly damaging	Het

Other mutations in Rims3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Rims3	APN	4	120,748,583 (GRCm39)	missense	probably benign	0.30
IGL01358:Rims3	APN	4	120,748,700 (GRCm39)	missense	possibly damaging	0.91
R0145:Rims3	UTSW	4	120,744,223 (GRCm39)	missense	probably damaging	1.00
R1347:Rims3	UTSW	4	120,740,322 (GRCm39)	missense	probably damaging	1.00
R1347:Rims3	UTSW	4	120,740,322 (GRCm39)	missense	probably damaging	1.00
R1998:Rims3	UTSW	4	120,748,555 (GRCm39)	missense	probably benign
R3708:Rims3	UTSW	4	120,740,352 (GRCm39)	missense	probably damaging	0.97
R4703:Rims3	UTSW	4	120,740,494 (GRCm39)	intron	probably benign
R6331:Rims3	UTSW	4	120,740,350 (GRCm39)	missense	probably damaging	0.96
R8299:Rims3	UTSW	4	120,746,569 (GRCm39)	missense	probably damaging	1.00
R9388:Rims3	UTSW	4	120,748,552 (GRCm39)	missense	possibly damaging	0.48
R9634:Rims3	UTSW	4	120,748,517 (GRCm39)	missense	possibly damaging	0.76
Z1176:Rims3	UTSW	4	120,746,269 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATATAGCCTGCCATGTCCCAG -3'
(R):5'- TGCAGCAGGATAAGGGGTTC -3'

Sequencing Primer
(F):5'- CTCAGACAGTGCATGCCC -3'
(R):5'- TTCAGAAGGACATGGAGACTATGTAC -3'

Posted On

2016-07-22