Mutagenetix > Incidental Mutation

Incidental Mutation 'R8726:Rims1'

662397

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

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R8726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22286251-22805994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22594100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 178 (D178G)

Ref Sequence

ENSEMBL: ENSMUSP00000095417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081544] [ENSMUST00000097808] [ENSMUST00000097809] [ENSMUST00000097810] [ENSMUST00000097811] [ENSMUST00000115273] [ENSMUST00000218140]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081544

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670

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: D178G

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: D178G

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 benign
Transcript: ENSMUST00000097809

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670

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 benign
Transcript: ENSMUST00000097810

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670

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 benign
Transcript: ENSMUST00000097811

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670

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 benign
Transcript: ENSMUST00000115273

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218140

Meta Mutation Damage Score

0.0914

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	A	G	11: 69,898,381	S331P	possibly damaging	Het
4930433I11Rik	A	G	7: 40,994,802	M632V	probably benign	Het
9930111J21Rik2	A	C	11: 49,019,680	V642G	probably damaging	Het
Abcd4	A	T	12: 84,604,397		probably benign	Het
Acsbg1	T	C	9: 54,618,178	E363G	probably damaging	Het
Ank3	T	A	10: 69,987,254	H584Q		Het
Ankrd11	A	T	8: 122,894,026	L1029Q	possibly damaging	Het
Anpep	C	T	7: 79,840,893	V292I	probably benign	Het
Atmin	G	A	8: 116,954,786	D175N	possibly damaging	Het
B4galt6	T	C	18: 20,688,393	I359M	possibly damaging	Het
Bicd2	A	G	13: 49,379,429	D497G	probably damaging	Het
Calcr	C	T	6: 3,707,489		probably benign	Het
Camkk2	G	T	5: 122,743,939	D418E	probably benign	Het
Cntn3	A	T	6: 102,169,053	Y942*	probably null	Het
Col8a1	C	T	16: 57,628,775	R124H	probably damaging	Het
Coro7	T	C	16: 4,668,755	T185A	possibly damaging	Het
Creb3	C	T	4: 43,566,747	P364S	probably benign	Het
Csf1r	A	T	18: 61,117,656	T480S	probably benign	Het
Csnk1g1	T	A	9: 66,002,271	H223Q	probably damaging	Het
Ctns	C	T	11: 73,187,787	V171M	probably benign	Het
Dhx15	A	T	5: 52,154,226	N637K	probably benign	Het
Eif4g1	T	C	16: 20,675,482	Y103H	probably damaging	Het
Eif4g2	C	T	7: 111,077,422	R295H	probably damaging	Het
Fam126b	T	C	1: 58,546,126	T171A	possibly damaging	Het
Fat1	C	T	8: 45,024,169	P2084L	probably benign	Het
Fat4	A	G	3: 39,010,498	R4868G	probably damaging	Het
Fbxo31	A	T	8: 121,555,275	Y295*	probably null	Het
Fmn2	C	A	1: 174,609,838	T1125N	possibly damaging	Het
Foxi2	C	A	7: 135,410,404	P7Q	probably damaging	Het
Hmx1	C	T	5: 35,391,756	P131L	probably damaging	Het
Hrh2	T	C	13: 54,214,152	L49P	probably damaging	Het
Igkv6-14	A	G	6: 70,435,141	V53A	possibly damaging	Het
Kcnb2	C	A	1: 15,710,652	Q583K	probably benign	Het
Kcns3	A	G	12: 11,091,691	S336P	probably damaging	Het
Kremen2	G	T	17: 23,742,746	F262L	probably damaging	Het
Krtap9-1	T	A	11: 99,873,751	C104*	probably null	Het
Ky	A	G	9: 102,527,903	Y199C	probably damaging	Het
L1td1	T	G	4: 98,733,978	L259R	probably damaging	Het
Lrba	A	G	3: 86,353,755	T1473A	probably benign	Het
Lrp6	A	T	6: 134,507,661	L333*	probably null	Het
Lrrc23	T	C	6: 124,776,080	N201S	probably benign	Het
Map4k4	C	A	1: 40,003,982	P666T	possibly damaging	Het
Matn1	T	A	4: 130,952,203	D389E	probably damaging	Het
Mdc1	G	T	17: 35,847,583	G285V	probably benign	Het
Mettl17	T	C	14: 51,890,730		probably null	Het
Mknk1	A	T	4: 115,873,309		probably benign	Het
Neurod1	A	T	2: 79,454,086	F318I	possibly damaging	Het
Nfya	T	C	17: 48,392,417	T213A	probably damaging	Het
Nmrk1	C	T	19: 18,639,538	T17M	probably damaging	Het
Ntrk1	A	C	3: 87,786,089	D245E	probably benign	Het
Nup160	C	A	2: 90,733,201	H1370Q	possibly damaging	Het
Olfr1151	T	C	2: 87,857,817	V214A	probably benign	Het
Olfr745	A	C	14: 50,643,246	K316Q	probably benign	Het
Olfr986	T	A	9: 40,187,367	V84E	probably damaging	Het
Parp4	G	A	14: 56,629,099	R1040H	probably benign	Het
Pdia4	C	A	6: 47,808,266	E56*	probably null	Het
Pdia5	A	G	16: 35,449,414	F175S	probably damaging	Het
Piezo2	C	T	18: 63,109,885	S621N	probably benign	Het
Pigw	T	C	11: 84,877,817	T229A	possibly damaging	Het
Rasa3	T	C	8: 13,576,381	Y734C	probably benign	Het
Rfx7	T	A	9: 72,593,223		probably benign	Het
Ros1	A	G	10: 52,078,673	V1853A	possibly damaging	Het
Rps7	A	G	12: 28,631,715	I139T	probably benign	Het
Sall3	T	C	18: 80,986,493	D15G	possibly damaging	Het
Scn1a	A	T	2: 66,303,639	V137D	probably benign	Het
Slc23a3	G	A	1: 75,129,529	P349S	probably benign	Het
Slc35a5	C	G	16: 45,143,658	R404P	probably damaging	Het
Stard13	A	T	5: 151,063,142	M301K	probably benign	Het
Suclg2	A	G	6: 95,655,508	F60S	probably damaging	Het
Tecpr2	T	A	12: 110,938,234	F887L	possibly damaging	Het
Tekt4	G	T	17: 25,472,059	W113L	probably damaging	Het
Tep1	G	A	14: 50,847,623	S901F	probably damaging	Het
Tex11	C	T	X: 101,015,585	V190I	possibly damaging	Het
Thbs1	T	A	2: 118,119,476		probably null	Het
Tm9sf4	T	A	2: 153,198,375	V425D	probably damaging	Het
Tpo	A	G	12: 30,055,138	L911P	possibly damaging	Het
Ttn	T	C	2: 76,898,957	Q5332R	unknown	Het
Wdr59	A	T	8: 111,496,834	D169E		Het
Zfp799	C	A	17: 32,820,192	G367C	probably damaging	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
R7048:Rims1	UTSW	1	22472820	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
R7955:Rims1	UTSW	1	22468241	missense	probably damaging	1.00
R8005:Rims1	UTSW	1	22412213	missense
R8071:Rims1	UTSW	1	22288536	nonsense	probably null
R8465:Rims1	UTSW	1	22428480	missense	possibly damaging	0.89
R8517:Rims1	UTSW	1	22483165	missense	probably damaging	1.00
R8703:Rims1	UTSW	1	22425887	missense
R9090:Rims1	UTSW	1	22428522	missense
R9179:Rims1	UTSW	1	22412266	missense	probably damaging	0.99
R9271:Rims1	UTSW	1	22428522	missense
R9291:Rims1	UTSW	1	22397522	missense
R9394:Rims1	UTSW	1	22472775	missense	probably damaging	1.00
R9578:Rims1	UTSW	1	22484742	missense	probably damaging	1.00
R9614:Rims1	UTSW	1	22421745	nonsense	probably null
R9726:Rims1	UTSW	1	22630412	missense	probably null	0.21
Z1088:Rims1	UTSW	1	22288586	missense	probably damaging	1.00
Z1176:Rims1	UTSW	1	22484671	nonsense	probably null
Z1177:Rims1	UTSW	1	22296939	missense	possibly damaging	0.93
Z1177:Rims1	UTSW	1	22468241	missense	probably damaging	1.00
Z1177:Rims1	UTSW	1	22472777	missense	probably benign	0.44
Z1177:Rims1	UTSW	1	22472804	missense	probably damaging	1.00
Z1186:Rims1	UTSW	1	22379482	missense

Predicted Primers

PCR Primer
(F):5'- TTCCAGGAATTCAGTCTACCCAAAC -3'
(R):5'- CACATGGTAGGACCTGTGTG -3'

Sequencing Primer
(F):5'- GGAATTCAGTCTACCCAAACTTTGC -3'
(R):5'- ACATGGTAGGACCTGTGTGTATGTG -3'

Posted On

2021-03-08