Mutagenetix > Incidental Mutations

Incidental Mutation 'R7048:Rims1'

547401

Institutional Source

Beutler Lab

Gene Symbol

Rims1

Ensembl Gene

ENSMUSG00000041670

Gene Name

regulating synaptic membrane exocytosis 1

Synonyms

RIM1a, RIM1, RIM1alpha, C030033M19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22286251-22805994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22472820 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 551 (S551P)

Ref Sequence

ENSEMBL: ENSMUSP00000095418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081544] [ENSMUST00000097808] [ENSMUST00000097809] [ENSMUST00000097810] [ENSMUST00000097811] [ENSMUST00000115273]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081544
AA Change: S551P

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

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: S551P

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
coiled coil region	30	52	N/A	INTRINSIC
Pfam:FYVE_2	102	205	2.6e-9	PFAM
low complexity region	283	293	N/A	INTRINSIC
low complexity region	329	345	N/A	INTRINSIC
low complexity region	381	394	N/A	INTRINSIC
PDZ	449	528	1.44e-15	SMART
low complexity region	535	551	N/A	INTRINSIC
C2	593	703	7.55e-1	SMART
low complexity region	710	721	N/A	INTRINSIC
low complexity region	899	934	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC
C2	1120	1223	7.45e-15	SMART
low complexity region	1245	1253	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097808
AA Change: S729P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: S729P

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
coiled coil region	30	52	N/A	INTRINSIC
Pfam:FYVE_2	102	205	3.3e-10	PFAM
low complexity region	283	293	N/A	INTRINSIC
low complexity region	329	345	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097809
AA Change: S551P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: S551P

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
coiled coil region	30	52	N/A	INTRINSIC
Pfam:FYVE_2	102	205	1e-9	PFAM
low complexity region	283	293	N/A	INTRINSIC
low complexity region	329	345	N/A	INTRINSIC
low complexity region	381	394	N/A	INTRINSIC
PDZ	449	528	1.44e-15	SMART
low complexity region	535	551	N/A	INTRINSIC
C2	593	703	7.55e-1	SMART
low complexity region	710	721	N/A	INTRINSIC
low complexity region	862	874	N/A	INTRINSIC
low complexity region	974	1009	N/A	INTRINSIC
low complexity region	1086	1100	N/A	INTRINSIC
C2	1195	1298	7.45e-15	SMART
low complexity region	1320	1328	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097810
AA Change: S551P

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

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: S551P

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
coiled coil region	30	52	N/A	INTRINSIC
PDB:2CJS\|C	131	193	2e-32	PDB
low complexity region	283	293	N/A	INTRINSIC
low complexity region	329	345	N/A	INTRINSIC
low complexity region	381	394	N/A	INTRINSIC
PDZ	449	528	1.44e-15	SMART
low complexity region	535	551	N/A	INTRINSIC
C2	593	703	7.55e-1	SMART
low complexity region	710	721	N/A	INTRINSIC
low complexity region	862	874	N/A	INTRINSIC
low complexity region	916	929	N/A	INTRINSIC
low complexity region	1035	1070	N/A	INTRINSIC
low complexity region	1147	1161	N/A	INTRINSIC
C2	1256	1359	7.45e-15	SMART
low complexity region	1381	1389	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097811
AA Change: S551P

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

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: S551P

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
coiled coil region	30	52	N/A	INTRINSIC
Pfam:FYVE_2	102	205	1.6e-9	PFAM
low complexity region	283	293	N/A	INTRINSIC
low complexity region	329	345	N/A	INTRINSIC
low complexity region	381	394	N/A	INTRINSIC
PDZ	449	528	1.44e-15	SMART
low complexity region	535	551	N/A	INTRINSIC
C2	593	703	7.55e-1	SMART
low complexity region	710	721	N/A	INTRINSIC
low complexity region	867	881	N/A	INTRINSIC
low complexity region	944	957	N/A	INTRINSIC
low complexity region	1063	1098	N/A	INTRINSIC
low complexity region	1175	1189	N/A	INTRINSIC
C2	1284	1387	7.45e-15	SMART
low complexity region	1409	1417	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115273
AA Change: S551P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: S551P

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
coiled coil region	30	52	N/A	INTRINSIC
Pfam:FYVE_2	102	205	2.8e-9	PFAM
low complexity region	283	293	N/A	INTRINSIC
low complexity region	329	345	N/A	INTRINSIC
low complexity region	381	394	N/A	INTRINSIC
PDZ	449	528	1.44e-15	SMART
low complexity region	535	551	N/A	INTRINSIC
C2	593	703	7.55e-1	SMART
low complexity region	710	721	N/A	INTRINSIC
low complexity region	950	985	N/A	INTRINSIC
low complexity region	1062	1076	N/A	INTRINSIC
C2	1171	1274	7.45e-15	SMART
low complexity region	1296	1304	N/A	INTRINSIC

Meta Mutation Damage Score

0.1647

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,846,929	D629G	probably damaging	Het
Akap11	T	A	14: 78,512,514	Q811L		Het
Ank2	T	A	3: 127,025,618	Q468L	probably benign	Het
Ano3	A	T	2: 110,682,771	Y626*	probably null	Het
Ap1m1	A	G	8: 72,249,798	N114S	probably damaging	Het
Asb3	T	A	11: 31,101,121	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,356	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,305,586	Y68H	probably benign	Het
Bbs5	T	C	2: 69,654,361	I125T	probably benign	Het
Cd180	A	G	13: 102,704,923	N159S	probably damaging	Het
Cd37	T	C	7: 45,238,464		probably benign	Het
Cdk14	T	A	5: 5,093,005	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,307,543	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,470	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,552,736	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491	S124R	probably benign	Het
Dlec1	A	T	9: 119,143,404		probably null	Het
Dnah17	T	C	11: 118,046,118	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,203,414		probably null	Het
Dusp23	A	T	1: 172,631,686	Y136*	probably null	Het
Eif4b	A	G	15: 102,093,136		probably benign	Het
F13a1	A	G	13: 36,898,143	V529A	probably benign	Het
Fhl2	A	G	1: 43,123,648	Y236H	probably damaging	Het
Gm826	C	T	2: 160,327,106	W94*	probably null	Het
Gpsm2	C	T	3: 108,703,045	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,599,653		probably null	Het
Ifit1bl2	T	C	19: 34,619,151	D355G	probably benign	Het
Itga8	A	G	2: 12,111,084	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,849,467	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,169,048	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,569,306	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,244,169	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969	N5301D	probably benign	Het
Mest	T	G	6: 30,742,724	H108Q	probably damaging	Het
Moxd1	C	A	10: 24,281,476	D335E	probably damaging	Het
Ncf2	A	C	1: 152,808,170	N47H	probably benign	Het
Npc1	A	G	18: 12,204,765		probably null	Het
Olfr113	A	T	17: 37,575,223	S67T	probably damaging	Het
Pcid2	A	G	8: 13,078,243	V386A	probably benign	Het
Phactr2	T	A	10: 13,245,424	T444S	probably benign	Het
Plekha7	T	C	7: 116,148,324	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,757,254	T382I	probably benign	Het
Pramef20	T	C	4: 144,377,184	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,623	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,732,220	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,210,326	D538G	probably benign	Het
Rrnad1	A	G	3: 87,929,860	I36T	probably damaging	Het
Rsrc1	A	G	3: 67,180,831	D166G	probably damaging	Het
Selenon	T	C	4: 134,542,843	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,377,565	L168H	probably damaging	Het
Smc3	T	C	19: 53,629,251	Y560H	probably benign	Het
Syce1	C	T	7: 140,779,368	D147N	possibly damaging	Het
Syt10	A	C	15: 89,790,805	V446G	probably damaging	Het
Taar1	T	C	10: 23,920,824	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032	C36F	probably damaging	Het
Thoc5	G	A	11: 4,926,237		probably null	Het
Tnrc6c	T	A	11: 117,721,974	N319K	probably benign	Het
Trhr2	C	T	8: 122,358,679	D189N	probably damaging	Het
Trim42	A	T	9: 97,363,421	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,088,302	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,194,319	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,929,376	T258I	possibly damaging	Het
Washc2	T	C	6: 116,220,583	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,774,744		probably benign	Het
Zzef1	T	G	11: 72,866,699	Y1193*	probably null	Het

Other mutations in Rims1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Rims1	APN	1	22468242	missense	probably damaging	1.00
IGL00535:Rims1	APN	1	22432921	missense	probably benign	0.02
IGL01021:Rims1	APN	1	22486620	missense	probably damaging	1.00
IGL01106:Rims1	APN	1	22379447	missense	probably damaging	1.00
IGL01128:Rims1	APN	1	22534175	missense	probably damaging	0.97
IGL01548:Rims1	APN	1	22538602	missense	probably damaging	1.00
IGL01688:Rims1	APN	1	22397540	missense	probably benign	0.22
IGL02089:Rims1	APN	1	22630475	missense	possibly damaging	0.68
IGL02245:Rims1	APN	1	22346488	missense	probably damaging	0.98
IGL02355:Rims1	APN	1	22483207	missense	probably damaging	1.00
IGL02362:Rims1	APN	1	22483207	missense	probably damaging	1.00
IGL02682:Rims1	APN	1	22288484	missense	probably damaging	1.00
IGL03006:Rims1	APN	1	22296954	missense	probably damaging	0.99
IGL03054:Rims1	UTSW	1	22290109	missense	probably damaging	1.00
PIT4504001:Rims1	UTSW	1	22397460	missense
R0031:Rims1	UTSW	1	22296879	missense	probably damaging	1.00
R0118:Rims1	UTSW	1	22346407	missense	probably damaging	1.00
R0390:Rims1	UTSW	1	22596526	missense	possibly damaging	0.92
R0483:Rims1	UTSW	1	22468182	splice site	probably benign
R0744:Rims1	UTSW	1	22427459	splice site	probably null
R0836:Rims1	UTSW	1	22427459	splice site	probably null
R1218:Rims1	UTSW	1	22483175	missense	probably damaging	1.00
R1228:Rims1	UTSW	1	22472756	missense	probably null	1.00
R1374:Rims1	UTSW	1	22296948	missense	probably damaging	1.00
R1474:Rims1	UTSW	1	22538281	splice site	probably benign
R1652:Rims1	UTSW	1	22292866	missense	probably damaging	1.00
R1712:Rims1	UTSW	1	22296948	missense	probably damaging	1.00
R1730:Rims1	UTSW	1	22346529	critical splice acceptor site	probably null
R1783:Rims1	UTSW	1	22346529	critical splice acceptor site	probably null
R1861:Rims1	UTSW	1	22596558	missense	probably damaging	1.00
R1899:Rims1	UTSW	1	22428474	missense	probably damaging	1.00
R1937:Rims1	UTSW	1	22288530	missense	probably damaging	1.00
R2010:Rims1	UTSW	1	22296996	missense	probably damaging	1.00
R2049:Rims1	UTSW	1	22596435	missense	probably damaging	1.00
R2124:Rims1	UTSW	1	22404508	nonsense	probably null
R2860:Rims1	UTSW	1	22432976	missense	probably benign	0.01
R2861:Rims1	UTSW	1	22432976	missense	probably benign	0.01
R2914:Rims1	UTSW	1	22805630	missense	probably damaging	1.00
R3740:Rims1	UTSW	1	22373443	missense	probably damaging	1.00
R3741:Rims1	UTSW	1	22373443	missense	probably damaging	1.00
R3773:Rims1	UTSW	1	22421810	missense	probably damaging	1.00
R3874:Rims1	UTSW	1	22428489	missense	probably damaging	1.00
R3901:Rims1	UTSW	1	22533497	missense	probably benign	0.00
R3964:Rims1	UTSW	1	22427459	splice site	probably null
R4037:Rims1	UTSW	1	22475712	missense	probably damaging	0.96
R4039:Rims1	UTSW	1	22475712	missense	probably damaging	0.96
R4056:Rims1	UTSW	1	22292939	splice site	probably benign
R4062:Rims1	UTSW	1	22533583	missense	probably benign	0.00
R4552:Rims1	UTSW	1	22373494	missense	probably damaging	0.99
R4658:Rims1	UTSW	1	22427543	missense	probably damaging	0.98
R4688:Rims1	UTSW	1	22479447	nonsense	probably null
R4696:Rims1	UTSW	1	22288612	missense	probably damaging	1.00
R4720:Rims1	UTSW	1	22427481	missense	probably damaging	1.00
R4764:Rims1	UTSW	1	22479462	missense	probably damaging	1.00
R4780:Rims1	UTSW	1	22291105	missense	probably damaging	1.00
R4931:Rims1	UTSW	1	22533947	missense	probably benign	0.26
R5137:Rims1	UTSW	1	22288620	nonsense	probably null
R5153:Rims1	UTSW	1	22483247	nonsense	probably null
R5305:Rims1	UTSW	1	22596542	missense	probably damaging	0.99
R5354:Rims1	UTSW	1	22538511	missense	probably damaging	1.00
R5386:Rims1	UTSW	1	22412245	missense	probably damaging	0.99
R5485:Rims1	UTSW	1	22483208	missense	possibly damaging	0.93
R5643:Rims1	UTSW	1	22538509	missense	probably damaging	1.00
R5929:Rims1	UTSW	1	22468241	missense	probably damaging	1.00
R5988:Rims1	UTSW	1	22596463	missense	probably damaging	1.00
R6160:Rims1	UTSW	1	22432984	missense	probably damaging	0.98
R6579:Rims1	UTSW	1	22425916	missense	probably damaging	1.00
R6790:Rims1	UTSW	1	22468197	missense	probably damaging	1.00
R7100:Rims1	UTSW	1	22346473	missense	probably benign	0.27
R7155:Rims1	UTSW	1	22432923	missense	probably damaging	0.99
R7171:Rims1	UTSW	1	22428489	missense
R7448:Rims1	UTSW	1	22404475	missense
R7505:Rims1	UTSW	1	22533996	missense	possibly damaging	0.55
R7567:Rims1	UTSW	1	22468210	missense	probably damaging	0.99
R7639:Rims1	UTSW	1	22805669	missense	probably benign	0.02
Z1088:Rims1	UTSW	1	22288586	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAAAGCCAGAGGATTGTTAATG -3'
(R):5'- CAATGCCCTCCAAAATGTCG -3'

Sequencing Primer
(F):5'- GCCAGAGGATTGTTAATGATGCATTC -3'
(R):5'- CAAACAGTGTTGGCTGT -3'

Posted On

2019-05-13