Mutagenetix > Incidental Mutation

Incidental Mutation 'R5988:Rims1'

481781

Institutional Source

Beutler Lab

Gene Symbol

Rims1

Ensembl Gene

ENSMUSG00000041670

Gene Name

regulating synaptic membrane exocytosis 1

Synonyms

RIM1a, RIM1, RIM1alpha, C030033M19Rik

MMRRC Submission

044168-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.644) question?

Stock #

R5988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22286251-22805994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22596463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 146 (K146E)

Ref Sequence

ENSEMBL: ENSMUSP00000151404 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081544
AA Change: K146E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: K146E

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

probably damaging
Transcript: ENSMUST00000097808
AA Change: K146E

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

SMART Domains

Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: K146E

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: K146E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: K146E

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
AA Change: K146E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: K146E

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
AA Change: K146E

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: K146E

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

possibly damaging
Transcript: ENSMUST00000115273
AA Change: K146E

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: K146E

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 damaging
Transcript: ENSMUST00000218140
AA Change: K146E

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

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 84.3%

Validation Efficiency

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,377,217	M441K	probably damaging	Het
Actr8	T	A	14: 29,993,073	M615K	possibly damaging	Het
Acvr1c	A	T	2: 58,315,874	C25S	probably damaging	Het
Adk	A	T	14: 21,423,548	E291V	probably benign	Het
Ahnak	C	A	19: 9,009,347		probably benign	Het
Alg11	A	G	8: 22,062,028	T63A	probably benign	Het
Alox12	A	T	11: 70,251,587	S272T	probably benign	Het
Armc10	T	A	5: 21,660,583	S195T	probably damaging	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Baat	G	A	4: 49,502,871	P84S	probably damaging	Het
BB014433	G	A	8: 15,041,854	T333I	probably damaging	Het
BC035947	G	A	1: 78,499,206	R230*	probably null	Het
Bcr	G	A	10: 75,175,335	G26E	probably benign	Het
Ccdc88b	T	C	19: 6,855,980	E233G	probably damaging	Het
Cep295	A	G	9: 15,341,474	F353L	probably damaging	Het
Chd8	T	C	14: 52,217,938	M1031V	probably damaging	Het
Col17a1	C	G	19: 47,654,220	G885R	probably damaging	Het
Cyp11a1	A	C	9: 58,020,834	I214L	probably benign	Het
Cyp3a44	A	T	5: 145,794,918	S139R	probably damaging	Het
Ddhd2	G	A	8: 25,748,562	R64C	probably damaging	Het
Dll3	A	G	7: 28,294,112	W561R	probably damaging	Het
Dnajc3	T	C	14: 118,957,964	V97A	possibly damaging	Het
Drosha	C	T	15: 12,834,496		probably benign	Het
E2f8	T	C	7: 48,874,995	D302G	probably damaging	Het
Ecd	C	G	14: 20,324,561	D504H	probably damaging	Het
Eif4g2	C	A	7: 111,077,230	V331L	probably benign	Het
Fam124a	T	C	14: 62,587,537	I160T	possibly damaging	Het
Fat1	A	G	8: 45,029,456	T3051A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm5039	T	A	12: 88,321,432	N17I	unknown	Het
Gm572	A	G	4: 148,668,507	E281G	possibly damaging	Het
Gm884	T	C	11: 103,615,896		probably benign	Het
Gm9944	T	C	4: 144,453,205		probably benign	Het
Gstm5	A	C	3: 107,895,954	M1L	probably benign	Het
Havcr1	A	G	11: 46,756,137	T133A	probably damaging	Het
Hey1	T	G	3: 8,666,319	S68R	probably damaging	Het
Hsf2bp	C	T	17: 32,011,175		probably null	Het
Id2	T	C	12: 25,095,724	N96S	probably benign	Het
Ifi206	A	C	1: 173,481,340	S363R	possibly damaging	Het
Il21r	T	C	7: 125,632,288	F296S	probably damaging	Het
Irgm2	A	G	11: 58,220,187	T247A	probably benign	Het
Irx5	T	A	8: 92,360,671	Y410*	probably null	Het
Kmt2c	A	G	5: 25,311,120	I2575T	probably benign	Het
Lmbrd2	T	A	15: 9,182,406		probably null	Het
Lrig1	A	C	6: 94,628,042	S191A	probably damaging	Het
Lypd6b	T	A	2: 49,946,166	C120S	probably damaging	Het
Mpdz	A	G	4: 81,284,575		probably null	Het
Myh6	G	T	14: 54,965,394	R23S	probably damaging	Het
Nat8f6	C	T	6: 85,809,058	M36I	probably benign	Het
Nol8	T	A	13: 49,672,614	M970K	possibly damaging	Het
Nrxn2	T	C	19: 6,492,871	F1042L	possibly damaging	Het
Nup160	T	C	2: 90,689,209	W277R	probably damaging	Het
Ogfr	A	T	2: 180,594,233	T204S	probably damaging	Het
Olfr136	T	C	17: 38,336,020	F288L	probably damaging	Het
Olfr16	T	A	1: 172,957,156	Y120*	probably null	Het
Olfr356	A	G	2: 36,937,224	Y35C	probably damaging	Het
Olfr59	T	C	11: 74,288,853	V69A	probably benign	Het
Olfr667	A	T	7: 104,916,918	V126E	probably damaging	Het
Olfr898	T	C	9: 38,349,749	V222A	probably benign	Het
Pcdh15	A	G	10: 74,379,357	I648V	probably benign	Het
Pced1b	T	A	15: 97,384,347	V89E	probably damaging	Het
Phax	G	T	18: 56,575,492	A43S	probably benign	Het
Phf20	A	G	2: 156,307,330	E976G	probably damaging	Het
Plin4	T	C	17: 56,109,567	T8A	probably benign	Het
Plxna1	G	A	6: 89,357,540	Q36*	probably null	Het
Pold1	T	C	7: 44,540,580	Y394C	probably damaging	Het
Ppp1r26	T	A	2: 28,452,554	V732E	probably benign	Het
Pramel5	A	T	4: 144,273,146	C124S	possibly damaging	Het
Prr14l	C	A	5: 32,830,851	L433F	probably damaging	Het
Ptpn14	A	G	1: 189,850,387	Y477C	probably damaging	Het
Rcl1	T	A	19: 29,121,767	I154N	probably damaging	Het
Rfpl4	T	C	7: 5,115,502	Y23C	probably damaging	Het
Rims2	A	T	15: 39,292,182	K126M	probably damaging	Het
Rpusd4	T	A	9: 35,272,520		probably null	Het
Scn7a	C	T	2: 66,726,214	W342*	probably null	Het
Sh3pxd2a	A	G	19: 47,364,638	V128A	probably benign	Het
Slc15a5	T	C	6: 138,043,531	H268R	probably benign	Het
Slc22a3	T	C	17: 12,433,895	I321V	possibly damaging	Het
Slc7a6os	A	G	8: 106,202,333	S231P	probably benign	Het
Smad5	T	C	13: 56,735,985	S395P	probably damaging	Het
Sorbs3	G	A	14: 70,203,303	T20I	probably benign	Het
Spata9	A	G	13: 75,968,117	I42V	probably benign	Het
Srl	C	T	16: 4,523,028	C9Y	unknown	Het
Sugp2	T	C	8: 70,243,225	F283L	probably benign	Het
Syne2	T	C	12: 75,929,417		probably null	Het
Taar6	A	G	10: 23,985,256	Y131H	probably damaging	Het
Tango2	T	C	16: 18,302,690	T137A	probably damaging	Het
Tas2r106	T	A	6: 131,678,643	I82L	probably benign	Het
Tbc1d32	T	C	10: 56,088,337	E922G	probably damaging	Het
Tgfb2	G	T	1: 186,704,581	P65Q	probably benign	Het
Tjp2	T	G	19: 24,114,100	I566L	probably benign	Het
Tnrc6a	T	A	7: 123,182,380	N1424K	probably damaging	Het
Trim7	A	T	11: 48,837,686	M54L	probably benign	Het
Trpm1	T	A	7: 64,226,805	S535R	probably benign	Het
Tsc2	T	A	17: 24,620,766	N417I	probably damaging	Het
Ttn	T	C	2: 76,969,788	R359G	probably benign	Het
Vim	A	G	2: 13,582,485	T458A	probably benign	Het
Vps11	A	T	9: 44,353,924	S612R	probably benign	Het
Wdfy3	A	G	5: 101,884,138	S2273P	probably benign	Het
Wwox	G	T	8: 114,706,341	R249L	probably benign	Het
Zbtb4	G	T	11: 69,778,964	G838C	probably damaging	Het
Zkscan3	A	T	13: 21,396,291	C76S	probably damaging	Het
Znrf3	C	T	11: 5,281,776	C483Y	probably damaging	Het
Zscan2	A	G	7: 80,876,199	K556R	possibly 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
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
R8726:Rims1	UTSW	1	22594100	missense	possibly damaging	0.88
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'- AGCCTCAGATCGTACATGC -3'
(R):5'- GCTGCCTTTCCTCAAACAGC -3'

Sequencing Primer
(F):5'- AGCCTCAGATCGTACATGCATTTAC -3'
(R):5'- TGCCTTTCCTCAAACAGCTCAAG -3'

Posted On

2017-06-26