Mutagenetix > Incidental Mutations

Incidental Mutation 'R0153:Rims4'

60902

Institutional Source

Beutler Lab

Gene Symbol

Rims4

Ensembl Gene

ENSMUSG00000035226

Gene Name

regulating synaptic membrane exocytosis 4

Synonyms

Rim4

MMRRC Submission

038436-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0153 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

163859751-163918683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 163863929 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 262 (V262M)

Ref Sequence

ENSEMBL: ENSMUSP00000045637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044734] [ENSMUST00000044798] [ENSMUST00000109396]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044734
AA Change: V262M

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045637
Gene: ENSMUSG00000035226
AA Change: V262M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044798

SMART Domains

Protein: ENSMUSP00000048326
Gene: ENSMUSG00000035238

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	78	153	1.2e-20	PFAM
Pfam:Ion_trans_2	184	267	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109396

SMART Domains

Protein: ENSMUSP00000105023
Gene: ENSMUSG00000035238

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	62	134	5.2e-21	PFAM
Pfam:Ion_trans_2	165	248	1.6e-17	PFAM

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	G	T	9: 94,524,480	D291E	probably benign	Het
2010300C02Rik	A	G	1: 37,624,639	V726A	probably benign	Het
Abcb9	T	C	5: 124,080,056	M406V	probably benign	Het
Adar	T	C	3: 89,730,814	S2P	probably benign	Het
Adgre1	T	A	17: 57,443,939	S538T	possibly damaging	Het
Alms1	T	A	6: 85,641,381	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,188,593		probably benign	Het
Arid1b	G	A	17: 5,342,932	A2246T	probably damaging	Het
BC024139	T	C	15: 76,121,747	E418G	probably damaging	Het
Bok	A	G	1: 93,686,517	D24G	probably damaging	Het
Cabp2	T	C	19: 4,084,913		probably benign	Het
Ccdc141	C	A	2: 77,165,238		probably benign	Het
Ccdc178	T	C	18: 22,150,435	T13A	probably benign	Het
Ccdc42	G	T	11: 68,587,650	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,149,202		probably benign	Het
Cluh	A	G	11: 74,657,350		probably benign	Het
Cr1l	A	T	1: 195,114,856		probably benign	Het
Csnk1g3	T	A	18: 53,918,789		probably benign	Het
Depdc5	T	C	5: 32,933,937		probably benign	Het
Dgkh	A	C	14: 78,570,129	Y1149*	probably null	Het
Dnaic1	A	G	4: 41,635,162		probably benign	Het
Efcab2	A	G	1: 178,474,886	E65G	possibly damaging	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam71e2	A	T	7: 4,770,287	L177Q	probably damaging	Het
Fgfr4	A	G	13: 55,161,385		probably benign	Het
Gm10720	A	C	9: 3,015,787	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm6471	A	T	7: 142,831,631		noncoding transcript	Het
Gm8994	A	T	6: 136,328,844	D101V	probably damaging	Het
Hnrnpm	C	T	17: 33,646,515	R724Q	probably damaging	Het
Homer1	C	T	13: 93,391,746	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,727,457	Q60L	probably damaging	Het
Ift172	T	C	5: 31,260,624	R1274G	probably benign	Het
Ino80d	A	G	1: 63,058,318	S806P	probably damaging	Het
Itga10	T	C	3: 96,653,700	V627A	probably benign	Het
Itgb2l	A	G	16: 96,437,369	Y77H	possibly damaging	Het
Kel	A	T	6: 41,701,943	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,967,271	S122P	possibly damaging	Het
Krt71	T	A	15: 101,734,706	I456F	possibly damaging	Het
Lats1	T	A	10: 7,691,575	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,123,019	H1858L	possibly damaging	Het
Matk	A	T	10: 81,262,842	T461S	probably benign	Het
Meikin	A	G	11: 54,409,642		probably benign	Het
Muc6	T	C	7: 141,634,116	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,238	F194L	possibly damaging	Het
Nbas	G	A	12: 13,273,876		probably benign	Het
Nme4	A	G	17: 26,093,857		probably null	Het
Olfr1136	A	G	2: 87,693,604	S93P	probably benign	Het
Olfr1217	T	A	2: 89,023,196	N269I	probably benign	Het
Olfr1340	A	T	4: 118,726,333	I29F	possibly damaging	Het
Olfr851	T	A	9: 19,496,937	L63H	probably damaging	Het
Olfr954	T	C	9: 39,461,671	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,377,661	Q473R	probably benign	Het
Patz1	A	G	11: 3,293,288	H427R	probably damaging	Het
Pkp3	A	G	7: 141,083,343	Y367C	probably damaging	Het
Prdm2	G	A	4: 143,133,768	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,874,128	C3091*	probably null	Het
Rpl5	T	C	5: 107,904,757	F140L	probably benign	Het
Sec24a	A	C	11: 51,700,826	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,372,203	H93R	probably benign	Het
Shank2	C	A	7: 144,070,135	H286N	probably benign	Het
Sipa1l2	G	T	8: 125,421,898	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,826,494	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,910,701		probably benign	Het
Smg5	C	T	3: 88,353,872		probably benign	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Taf8	A	T	17: 47,498,252		probably benign	Het
Tarsl2	A	G	7: 65,684,081	D617G	probably damaging	Het
Tbc1d5	A	T	17: 50,984,687		probably benign	Het
Tfcp2	C	G	15: 100,514,827	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,170,384	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,184,336	Q70R	probably benign	Het
Trip13	G	T	13: 73,920,064	A266E	possibly damaging	Het
Ttc24	T	A	3: 88,074,927		probably benign	Het
Ttll5	T	A	12: 85,831,966	I49N	probably damaging	Het
Ube2ql1	A	T	13: 69,738,592	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 13,132,284	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,392,008	Y120H	probably benign	Het
Wdr6	G	A	9: 108,575,242	R481C	probably damaging	Het
Wdr60	A	G	12: 116,232,636	V497A	probably benign	Het
Zcchc6	G	A	13: 59,782,336	R962*	probably null	Het
Zdhhc17	A	T	10: 110,955,094	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185	N620D	probably benign	Het
Zfp932	T	A	5: 110,006,968	Y11N	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGTAGCCAACCCACTGGGAAAG -3'
(R):5'- TCAGTTGCAAGACGTAACCAGCC -3'

Sequencing Primer
(F):5'- CCACTGGGAAAGGGAAGGTC -3'
(R):5'- CGTGTGGGGAAACTACGG -3'

Posted On

2013-07-24