Mutagenetix > Incidental Mutations

Incidental Mutation 'R1554:Rims4'

170134

Institutional Source

Beutler Lab

Gene Symbol

Rims4

Ensembl Gene

ENSMUSG00000035226

Gene Name

regulating synaptic membrane exocytosis 4

Synonyms

Rim4

MMRRC Submission

039593-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R1554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163859751-163918683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163879122 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 70 (S70G)

Ref Sequence

ENSEMBL: ENSMUSP00000045637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044734]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044734
AA Change: S70G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226
AA Change: S70G

Domain	Start	End	E-Value	Type
C2	129	232	1.42e-11	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induec allele exhibit reduced body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,908,902	D70E	possibly damaging	Het
Adamts7	A	T	9: 90,173,650	D152V	probably damaging	Het
Api5	T	C	2: 94,425,643	D233G	probably benign	Het
Btaf1	A	G	19: 36,996,598	D1390G	probably benign	Het
Cep135	G	A	5: 76,634,213	W893*	probably null	Het
Cmtm6	T	A	9: 114,746,482	V153D	possibly damaging	Het
Dnah11	C	T	12: 118,082,499	V1735I	possibly damaging	Het
Dnm1l	T	C	16: 16,341,426	N104S	probably benign	Het
Dpyd	A	T	3: 119,065,046		probably null	Het
Dtx1	T	C	5: 120,683,321	K387R	probably damaging	Het
Ercc4	A	G	16: 13,147,622	D706G	probably damaging	Het
Fam208b	A	G	13: 3,576,374	V1192A	possibly damaging	Het
Fat2	T	C	11: 55,253,664	N4128S	probably benign	Het
Gm42669	T	A	5: 107,507,787	C639S	possibly damaging	Het
Grk3	T	A	5: 112,969,269	I89L	possibly damaging	Het
Grm8	A	T	6: 28,125,853	D91E	probably benign	Het
Havcr1	C	A	11: 46,752,507	H85N	probably benign	Het
Il12rb1	G	A	8: 70,813,372		probably null	Het
Kif3a	A	G	11: 53,598,327	K117E	probably damaging	Het
Kitl	T	A	10: 100,087,438	F15L	probably benign	Het
Ktn1	T	G	14: 47,695,507	L706R	probably damaging	Het
Lipg	T	C	18: 74,948,047	Y321C	probably damaging	Het
Mapk8ip3	T	C	17: 24,903,059	D710G	probably benign	Het
Mb21d1	A	T	9: 78,435,556	S321R	probably damaging	Het
Mchr1	A	G	15: 81,235,820	N16S	probably benign	Het
Myadml2	A	T	11: 120,647,727	L94*	probably null	Het
Npr3	C	A	15: 11,848,563	M439I	probably benign	Het
Obscn	A	G	11: 59,003,648	I6677T	unknown	Het
Ogn	A	C	13: 49,621,044	D221A	probably benign	Het
Olfr889	T	C	9: 38,115,934	I46T	probably benign	Het
Pard3b	C	A	1: 62,637,894	Q1195K	probably damaging	Het
Pcsk4	T	C	10: 80,321,951	E608G	probably benign	Het
Pdlim1	T	C	19: 40,223,072	D259G	probably benign	Het
Per1	T	C	11: 69,103,627	S526P	probably damaging	Het
Pfkfb2	A	G	1: 130,706,472	V156A	probably damaging	Het
Ppp4r3a	A	T	12: 101,055,822	D307E	probably damaging	Het
Rnf213	T	C	11: 119,441,839	F2625L	probably benign	Het
Sap130	T	C	18: 31,666,472	L334P	probably damaging	Het
Slc16a10	T	C	10: 40,076,800	I233V	probably benign	Het
Slc16a7	A	C	10: 125,230,922	F283V	possibly damaging	Het
Slc25a24	T	C	3: 109,136,270	M81T	probably benign	Het
Slc30a9	A	G	5: 67,326,921	R134G	probably damaging	Het
Slc35d3	G	T	10: 19,850,737	L96M	probably damaging	Het
Slc7a11	C	T	3: 50,381,896	G333D	probably damaging	Het
Stam	T	C	2: 14,141,828	S446P	probably benign	Het
Stk38	T	A	17: 28,979,232	N248I	possibly damaging	Het
Tle6	A	C	10: 81,595,385	S221A	probably benign	Het
Tmprss11b	G	A	5: 86,661,631	T334I	probably benign	Het
Tmprss11c	T	A	5: 86,289,260	M1L	possibly damaging	Het
Tpm1	T	C	9: 67,023,429	H262R	probably benign	Het
Tspan33	T	C	6: 29,711,082	S118P	possibly damaging	Het
Tyk2	A	G	9: 21,107,922	V1068A	probably damaging	Het
Ubr2	T	C	17: 46,972,951	I591V	probably benign	Het
Utp20	A	T	10: 88,764,737	Y38*	probably null	Het
Vmn1r217	A	T	13: 23,114,294	I146N	possibly damaging	Het
Zfp608	T	C	18: 54,898,054	Y938C	probably damaging	Het

Other mutations in Rims4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Rims4	APN	2	163864102	missense	probably damaging	1.00
IGL01980:Rims4	APN	2	163865782	splice site	probably benign
demure	UTSW	2	163864120	missense	probably damaging	0.99
diminutive	UTSW	2	163864865	critical splice donor site	probably null
R0115:Rims4	UTSW	2	163864120	missense	probably damaging	0.99
R0152:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R0153:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R0173:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R0238:Rims4	UTSW	2	163864025	missense	probably benign	0.03
R0238:Rims4	UTSW	2	163864025	missense	probably benign	0.03
R0481:Rims4	UTSW	2	163864120	missense	probably damaging	0.99
R0702:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R0735:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R0973:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R0973:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R0974:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R1013:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R1014:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R1017:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R1104:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R1209:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R1401:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R1618:Rims4	UTSW	2	163863929	missense	possibly damaging	0.65
R2104:Rims4	UTSW	2	163864865	critical splice donor site	probably null
R2171:Rims4	UTSW	2	163864126	splice site	probably null
R3611:Rims4	UTSW	2	163879206	missense	possibly damaging	0.50
R3735:Rims4	UTSW	2	163863985	missense	possibly damaging	0.88
R3836:Rims4	UTSW	2	163918653	missense	possibly damaging	0.86
R4685:Rims4	UTSW	2	163864994	nonsense	probably null
R4849:Rims4	UTSW	2	163865543	missense	probably benign	0.11
R4873:Rims4	UTSW	2	163865523	missense	probably null	0.00
R4875:Rims4	UTSW	2	163865523	missense	probably null	0.00
R5337:Rims4	UTSW	2	163865843	missense	probably benign	0.00
R5415:Rims4	UTSW	2	163918676	missense	probably benign	0.26
R5646:Rims4	UTSW	2	163864017	nonsense	probably null
R6487:Rims4	UTSW	2	163864897	missense	possibly damaging	0.93
R7213:Rims4	UTSW	2	163864061	missense	probably benign	0.00
R7814:Rims4	UTSW	2	163918628	missense	probably benign	0.05
R7849:Rims4	UTSW	2	163864054	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGGTTTCTTCTGAAGGCCCTG -3'
(R):5'- AGCTGGAGACAATGCTATGTGCTG -3'

Sequencing Primer
(F):5'- AAGGCCCTGGAGGCTTAG -3'
(R):5'- TGAAGAGCGCCTTGTTCC -3'

Posted On

2014-04-13