Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00227:Rims1'

306791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rims1

Ensembl Gene

ENSMUSG00000041670

Gene Name

regulating synaptic membrane exocytosis 1

Synonyms

RIM1alpha, C030033M19Rik, RIM1, RIM1a

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

IGL00227

Quality Score

Status

Chromosome

Chromosomal Location

22356475-22845203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22507323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 609 (D609V)

Ref Sequence

ENSEMBL: ENSMUSP00000110928 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000081544
AA Change: D609V

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

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: D609V

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: D787V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: D787V

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: D609V

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

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: D609V

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: D609V

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

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: D609V

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: D609V

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

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: D609V

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: D609V

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

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: D609V

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

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	A	17: 84,995,957 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,654,946 (GRCm39)	E2695G	probably damaging	Het
B3galnt2	A	G	13: 14,162,016 (GRCm39)	N246D	probably benign	Het
Ces1h	A	T	8: 94,079,098 (GRCm39)	M495K	unknown	Het
Chga	A	G	12: 102,529,058 (GRCm39)	E345G	probably damaging	Het
Chrnb3	T	C	8: 27,875,129 (GRCm39)	F43L	probably benign	Het
Ctu1	C	A	7: 43,324,928 (GRCm39)	F122L	possibly damaging	Het
Cwf19l2	C	A	9: 3,409,990 (GRCm39)	Q40K	probably benign	Het
Dlg2	T	C	7: 91,614,853 (GRCm39)	I264T	probably damaging	Het
Dnah1	C	T	14: 31,008,853 (GRCm39)	V1974M	probably damaging	Het
Foxf2	C	A	13: 31,810,172 (GRCm39)	P37Q	unknown	Het
Gtf2e2	T	C	8: 34,266,473 (GRCm39)		probably benign	Het
Hectd3	C	A	4: 116,857,785 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,857,786 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,857,784 (GRCm39)		probably benign	Het
Ift122	A	T	6: 115,894,018 (GRCm39)	H901L	probably benign	Het
Itih1	C	T	14: 30,664,846 (GRCm39)		probably null	Het
Krt84	C	A	15: 101,436,208 (GRCm39)	M460I	probably benign	Het
Moxd1	C	T	10: 24,158,491 (GRCm39)	H382Y	probably damaging	Het
Npy6r	A	T	18: 44,409,511 (GRCm39)	T311S	probably damaging	Het
Or1p1	C	T	11: 74,179,952 (GRCm39)	T160I	probably damaging	Het
Or52n3	C	T	7: 104,530,724 (GRCm39)	T270I	probably benign	Het
Pbk	T	C	14: 66,051,340 (GRCm39)	I126T	probably damaging	Het
Pde1b	C	T	15: 103,435,107 (GRCm39)	S400F	probably damaging	Het
Plxna2	T	A	1: 194,326,965 (GRCm39)	C300S	probably damaging	Het
Pnpla6	C	T	8: 3,573,808 (GRCm39)	R419W	probably damaging	Het
Ppp4r3a	A	G	12: 101,016,053 (GRCm39)	L33P	probably damaging	Het
Ralb	T	A	1: 119,403,770 (GRCm39)	D119V	probably benign	Het
Relb	A	C	7: 19,356,849 (GRCm39)		probably null	Het
Scnn1a	A	G	6: 125,315,342 (GRCm39)	T377A	probably benign	Het
Slc13a2	T	C	11: 78,291,374 (GRCm39)	T367A	probably damaging	Het
Sort1	T	C	3: 108,263,623 (GRCm39)	L807P	probably damaging	Het
Sptbn1	C	A	11: 30,060,818 (GRCm39)	E2051*	probably null	Het
St6galnac1	T	C	11: 116,658,532 (GRCm39)	I311V	probably damaging	Het

Other mutations in Rims1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Rims1	APN	1	22,503,172 (GRCm39)	missense	probably benign	0.02
IGL01021:Rims1	APN	1	22,525,701 (GRCm39)	missense	probably damaging	1.00
IGL01106:Rims1	APN	1	22,449,671 (GRCm39)	missense	probably damaging	1.00
IGL01128:Rims1	APN	1	22,573,256 (GRCm39)	missense	probably damaging	0.97
IGL01548:Rims1	APN	1	22,577,683 (GRCm39)	missense	probably damaging	1.00
IGL01688:Rims1	APN	1	22,467,764 (GRCm39)	missense	probably benign	0.22
IGL02089:Rims1	APN	1	22,669,556 (GRCm39)	missense	possibly damaging	0.68
IGL02245:Rims1	APN	1	22,416,712 (GRCm39)	missense	probably damaging	0.98
IGL02355:Rims1	APN	1	22,522,288 (GRCm39)	missense	probably damaging	1.00
IGL02362:Rims1	APN	1	22,522,288 (GRCm39)	missense	probably damaging	1.00
IGL02682:Rims1	APN	1	22,358,708 (GRCm39)	missense	probably damaging	1.00
IGL03006:Rims1	APN	1	22,367,178 (GRCm39)	missense	probably damaging	0.99
IGL03054:Rims1	UTSW	1	22,360,333 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Rims1	UTSW	1	22,467,684 (GRCm39)	missense
R0031:Rims1	UTSW	1	22,367,103 (GRCm39)	missense	probably damaging	1.00
R0118:Rims1	UTSW	1	22,416,631 (GRCm39)	missense	probably damaging	1.00
R0390:Rims1	UTSW	1	22,635,607 (GRCm39)	missense	possibly damaging	0.92
R0483:Rims1	UTSW	1	22,507,263 (GRCm39)	splice site	probably benign
R0744:Rims1	UTSW	1	22,497,709 (GRCm39)	splice site	probably null
R0836:Rims1	UTSW	1	22,497,709 (GRCm39)	splice site	probably null
R1218:Rims1	UTSW	1	22,522,256 (GRCm39)	missense	probably damaging	1.00
R1228:Rims1	UTSW	1	22,511,837 (GRCm39)	missense	probably null	1.00
R1374:Rims1	UTSW	1	22,367,172 (GRCm39)	missense	probably damaging	1.00
R1474:Rims1	UTSW	1	22,577,362 (GRCm39)	splice site	probably benign
R1652:Rims1	UTSW	1	22,363,090 (GRCm39)	missense	probably damaging	1.00
R1712:Rims1	UTSW	1	22,367,172 (GRCm39)	missense	probably damaging	1.00
R1730:Rims1	UTSW	1	22,416,753 (GRCm39)	critical splice acceptor site	probably null
R1783:Rims1	UTSW	1	22,416,753 (GRCm39)	critical splice acceptor site	probably null
R1861:Rims1	UTSW	1	22,635,639 (GRCm39)	missense	probably damaging	1.00
R1899:Rims1	UTSW	1	22,498,725 (GRCm39)	missense	probably damaging	1.00
R1937:Rims1	UTSW	1	22,358,754 (GRCm39)	missense	probably damaging	1.00
R2010:Rims1	UTSW	1	22,367,220 (GRCm39)	missense	probably damaging	1.00
R2049:Rims1	UTSW	1	22,635,516 (GRCm39)	missense	probably damaging	1.00
R2124:Rims1	UTSW	1	22,474,732 (GRCm39)	nonsense	probably null
R2860:Rims1	UTSW	1	22,503,227 (GRCm39)	missense	probably benign	0.01
R2861:Rims1	UTSW	1	22,503,227 (GRCm39)	missense	probably benign	0.01
R2914:Rims1	UTSW	1	22,844,711 (GRCm39)	missense	probably damaging	1.00
R3740:Rims1	UTSW	1	22,443,667 (GRCm39)	missense	probably damaging	1.00
R3741:Rims1	UTSW	1	22,443,667 (GRCm39)	missense	probably damaging	1.00
R3773:Rims1	UTSW	1	22,492,034 (GRCm39)	missense	probably damaging	1.00
R3874:Rims1	UTSW	1	22,498,740 (GRCm39)	missense	probably damaging	1.00
R3901:Rims1	UTSW	1	22,572,578 (GRCm39)	missense	probably benign	0.00
R3964:Rims1	UTSW	1	22,497,709 (GRCm39)	splice site	probably null
R4037:Rims1	UTSW	1	22,514,793 (GRCm39)	missense	probably damaging	0.96
R4039:Rims1	UTSW	1	22,514,793 (GRCm39)	missense	probably damaging	0.96
R4056:Rims1	UTSW	1	22,363,163 (GRCm39)	splice site	probably benign
R4062:Rims1	UTSW	1	22,572,664 (GRCm39)	missense	probably benign	0.00
R4552:Rims1	UTSW	1	22,443,718 (GRCm39)	missense	probably damaging	0.99
R4658:Rims1	UTSW	1	22,497,793 (GRCm39)	missense	probably damaging	0.98
R4688:Rims1	UTSW	1	22,518,528 (GRCm39)	nonsense	probably null
R4696:Rims1	UTSW	1	22,358,836 (GRCm39)	missense	probably damaging	1.00
R4720:Rims1	UTSW	1	22,497,731 (GRCm39)	missense	probably damaging	1.00
R4764:Rims1	UTSW	1	22,518,543 (GRCm39)	missense	probably damaging	1.00
R4780:Rims1	UTSW	1	22,361,329 (GRCm39)	missense	probably damaging	1.00
R4931:Rims1	UTSW	1	22,573,028 (GRCm39)	missense	probably benign	0.26
R5137:Rims1	UTSW	1	22,358,844 (GRCm39)	nonsense	probably null
R5153:Rims1	UTSW	1	22,522,328 (GRCm39)	nonsense	probably null
R5305:Rims1	UTSW	1	22,635,623 (GRCm39)	missense	probably damaging	0.99
R5354:Rims1	UTSW	1	22,577,592 (GRCm39)	missense	probably damaging	1.00
R5386:Rims1	UTSW	1	22,482,469 (GRCm39)	missense	probably damaging	0.99
R5485:Rims1	UTSW	1	22,522,289 (GRCm39)	missense	possibly damaging	0.93
R5643:Rims1	UTSW	1	22,577,590 (GRCm39)	missense	probably damaging	1.00
R5929:Rims1	UTSW	1	22,507,322 (GRCm39)	missense	probably damaging	1.00
R5988:Rims1	UTSW	1	22,635,544 (GRCm39)	missense	probably damaging	1.00
R6160:Rims1	UTSW	1	22,503,235 (GRCm39)	missense	probably damaging	0.98
R6579:Rims1	UTSW	1	22,496,166 (GRCm39)	missense	probably damaging	1.00
R6790:Rims1	UTSW	1	22,507,278 (GRCm39)	missense	probably damaging	1.00
R7048:Rims1	UTSW	1	22,511,901 (GRCm39)	missense	probably damaging	1.00
R7100:Rims1	UTSW	1	22,416,697 (GRCm39)	missense	probably benign	0.27
R7155:Rims1	UTSW	1	22,503,174 (GRCm39)	missense	probably damaging	0.99
R7171:Rims1	UTSW	1	22,498,740 (GRCm39)	missense
R7448:Rims1	UTSW	1	22,474,699 (GRCm39)	missense
R7505:Rims1	UTSW	1	22,573,077 (GRCm39)	missense	possibly damaging	0.55
R7567:Rims1	UTSW	1	22,507,291 (GRCm39)	missense	probably damaging	0.99
R7639:Rims1	UTSW	1	22,844,750 (GRCm39)	missense	probably benign	0.02
R7955:Rims1	UTSW	1	22,507,322 (GRCm39)	missense	probably damaging	1.00
R8005:Rims1	UTSW	1	22,482,437 (GRCm39)	missense
R8071:Rims1	UTSW	1	22,358,760 (GRCm39)	nonsense	probably null
R8465:Rims1	UTSW	1	22,498,731 (GRCm39)	missense	possibly damaging	0.89
R8517:Rims1	UTSW	1	22,522,246 (GRCm39)	missense	probably damaging	1.00
R8703:Rims1	UTSW	1	22,496,137 (GRCm39)	missense
R8726:Rims1	UTSW	1	22,633,181 (GRCm39)	missense	possibly damaging	0.88
R9090:Rims1	UTSW	1	22,498,773 (GRCm39)	missense
R9179:Rims1	UTSW	1	22,482,490 (GRCm39)	missense	probably damaging	0.99
R9271:Rims1	UTSW	1	22,498,773 (GRCm39)	missense
R9291:Rims1	UTSW	1	22,467,746 (GRCm39)	missense
R9394:Rims1	UTSW	1	22,511,856 (GRCm39)	missense	probably damaging	1.00
R9578:Rims1	UTSW	1	22,523,823 (GRCm39)	missense	probably damaging	1.00
R9614:Rims1	UTSW	1	22,491,969 (GRCm39)	nonsense	probably null
R9726:Rims1	UTSW	1	22,669,493 (GRCm39)	missense	probably null	0.21
Z1088:Rims1	UTSW	1	22,358,810 (GRCm39)	missense	probably damaging	1.00
Z1176:Rims1	UTSW	1	22,523,752 (GRCm39)	nonsense	probably null
Z1177:Rims1	UTSW	1	22,511,858 (GRCm39)	missense	probably benign	0.44
Z1177:Rims1	UTSW	1	22,507,322 (GRCm39)	missense	probably damaging	1.00
Z1177:Rims1	UTSW	1	22,367,163 (GRCm39)	missense	possibly damaging	0.93
Z1177:Rims1	UTSW	1	22,511,885 (GRCm39)	missense	probably damaging	1.00
Z1186:Rims1	UTSW	1	22,449,706 (GRCm39)	missense

Posted On

2015-04-16