Mutagenetix > Incidental Mutations

Incidental Mutation 'R3836:Rims4'

275623

Institutional Source

Beutler Lab

Gene Symbol

Rims4

Ensembl Gene

ENSMUSG00000035226

Gene Name

regulating synaptic membrane exocytosis 4

Synonyms

Rim4

MMRRC Submission

040891-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R3836 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

163859751-163918683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163918653 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 11 (S11P)

Ref Sequence

ENSEMBL: ENSMUSP00000045637 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044734
AA Change: S11P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226
AA Change: S11P

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

Meta Mutation Damage Score

0.1026

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,812,385		noncoding transcript	Het
Aasdh	A	G	5: 76,878,468	V903A	probably benign	Het
Ankrd6	T	A	4: 32,817,531	D271V	probably damaging	Het
Ano10	C	T	9: 122,263,763	V167M	possibly damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
AW551984	T	C	9: 39,597,908		probably benign	Het
Bub1	G	T	2: 127,814,886	P442Q	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Comp	A	G	8: 70,373,859	D28G	probably benign	Het
Crym	A	G	7: 120,201,216	V61A	probably benign	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Dtna	A	T	18: 23,625,102	Q488L	probably damaging	Het
Ecel1	A	C	1: 87,150,656	L565R	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fnbp4	A	G	2: 90,746,785	T154A	probably damaging	Het
Fsip2	T	C	2: 82,950,946	L32P	probably damaging	Het
Gldc	T	A	19: 30,118,675		probably benign	Het
Gm12695	T	G	4: 96,762,097	T171P	probably damaging	Het
Gm4868	A	C	5: 125,847,950		noncoding transcript	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Gstm5	T	C	3: 107,896,362	I37T	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Itga11	G	T	9: 62,769,283	V918L	probably benign	Het
Itgb2l	T	A	16: 96,426,167	M559L	probably benign	Het
Itih1	T	A	14: 30,935,828	N429Y	probably damaging	Het
Madd	A	T	2: 91,154,643		probably null	Het
Map3k11	A	G	19: 5,690,803	E186G	possibly damaging	Het
Mbl2	T	C	19: 30,239,514	F242S	probably damaging	Het
Mcph1	A	G	8: 18,622,659	T102A	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mkln1	A	G	6: 31,468,336	D389G	probably damaging	Het
Mmrn1	G	A	6: 60,944,847	S96N	probably benign	Het
Myd88	A	G	9: 119,338,193		probably benign	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nprl3	C	T	11: 32,233,082	E502K	probably damaging	Het
Nudt5	T	A	2: 5,866,347		probably null	Het
Olfr1045	A	G	2: 86,198,662	V30A	probably benign	Het
Olfr191	A	G	16: 59,086,223	S87P	possibly damaging	Het
Olfr691	G	A	7: 105,337,210	P169S	probably benign	Het
Olfr810	C	T	10: 129,791,170	V140M	probably benign	Het
Plaa	T	C	4: 94,586,922		probably null	Het
Ptk2b	A	G	14: 66,156,342	L894P	probably damaging	Het
Rab8b	A	G	9: 66,847,796	S183P	probably benign	Het
Reln	A	G	5: 21,911,014	Y2999H	probably damaging	Het
Scel	A	G	14: 103,592,386	K448R	possibly damaging	Het
Serpinb10	A	T	1: 107,536,086	T33S	probably benign	Het
Sgip1	A	G	4: 102,867,700		probably null	Het
Spata5	T	A	3: 37,433,643	Y428N	possibly damaging	Het
Sv2b	A	T	7: 75,157,428	M158K	probably damaging	Het
Tmem132d	A	T	5: 127,784,885	I724N	probably damaging	Het
Tnrc6c	A	G	11: 117,723,229	T738A	probably benign	Het
Tpbg	T	C	9: 85,843,114		probably benign	Het
Tubb2a	G	T	13: 34,075,311	N165K	probably benign	Het
Ubtfl1	A	T	9: 18,409,237	E20D	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r25	C	A	6: 123,853,085	D36Y	probably damaging	Het
Wdhd1	A	G	14: 47,245,054	V946A	probably benign	Het
Wnk1	T	C	6: 119,950,043	E1265G	probably damaging	Het
Zmynd8	G	A	2: 165,858,099	T14I	probably benign	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
R1554:Rims4	UTSW	2	163879122	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGGTATCTATCCGAGTGG -3'
(R):5'- TCACAGTCACGGGTCAGAGC -3'

Sequencing Primer
(F):5'- TCCGAGTGGGACCGAGAG -3'
(R):5'- CGAGCACCTCGCGTCTC -3'

Posted On

2015-04-06