Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01688:Rims1'

104015

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: 0.675) question?

Stock #

IGL01688

Quality Score

Status

Chromosome

Chromosomal Location

22356475-22845203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22467764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 873 (T873I)

Ref Sequence

ENSEMBL: ENSMUSP00000110928 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081544
AA Change: T822I

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: T822I

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 benign
Transcript: ENSMUST00000097809
AA Change: T897I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: T897I

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: T958I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: T958I

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: T986I

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: T986I

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
AA Change: T873I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: T873I

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

unknown
Transcript: ENSMUST00000185942
AA Change: T290I

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,985 (GRCm39)	L59P	probably damaging	Het
Ccin	A	T	4: 43,984,985 (GRCm39)	E464V	possibly damaging	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Col28a1	C	T	6: 7,998,517 (GRCm39)	E1131K	probably damaging	Het
Cpne2	A	G	8: 95,281,381 (GRCm39)	T196A	possibly damaging	Het
Cul4a	A	T	8: 13,196,571 (GRCm39)	R742*	probably null	Het
Cyp21a1	T	A	17: 35,021,194 (GRCm39)	I370F	probably damaging	Het
Ddx51	T	C	5: 110,803,513 (GRCm39)	F332L	probably benign	Het
Gm8232	A	G	14: 44,671,179 (GRCm39)	D29G	unknown	Het
Got1	A	G	19: 43,512,775 (GRCm39)		probably null	Het
Gpat4	A	G	8: 23,671,861 (GRCm39)	I58T	probably benign	Het
Hdac3	T	A	18: 38,087,932 (GRCm39)	D12V	possibly damaging	Het
Helb	T	C	10: 119,944,885 (GRCm39)	H217R	probably damaging	Het
Hpf1	A	T	8: 61,349,830 (GRCm39)	I153L	probably benign	Het
Lgsn	G	A	1: 31,243,486 (GRCm39)	D523N	probably damaging	Het
Lrrc63	A	G	14: 75,322,422 (GRCm39)	S561P	possibly damaging	Het
Myh6	G	A	14: 55,201,417 (GRCm39)	T94I	possibly damaging	Het
Mzt2	T	C	16: 15,680,793 (GRCm39)		probably benign	Het
Ndufb5	T	A	3: 32,800,613 (GRCm39)	L62*	probably null	Het
Nek1	A	T	8: 61,558,631 (GRCm39)	R970*	probably null	Het
Nepro	T	C	16: 44,556,369 (GRCm39)	L509P	probably damaging	Het
Pank1	T	A	19: 34,818,252 (GRCm39)	I96F	probably damaging	Het
Parp11	C	A	6: 127,448,569 (GRCm39)	T62K	probably benign	Het
Pla2g2e	T	A	4: 138,606,781 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,515,115 (GRCm39)	Y207N	probably damaging	Het
Pomt2	T	A	12: 87,194,294 (GRCm39)	I37F	probably benign	Het
Prl6a1	T	A	13: 27,501,969 (GRCm39)	V117E	probably damaging	Het
Prmt3	T	A	7: 49,498,480 (GRCm39)		probably null	Het
Rcor3	T	A	1: 191,807,900 (GRCm39)	E20V	probably damaging	Het
Rere	A	G	4: 150,702,893 (GRCm39)	D1449G	probably damaging	Het
Ric1	T	C	19: 29,555,014 (GRCm39)	V376A	probably benign	Het
Rras2	T	C	7: 113,659,632 (GRCm39)	D44G	probably damaging	Het
Sbk2	C	T	7: 4,960,716 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,717,545 (GRCm39)	I73T	probably damaging	Het
Spice1	T	A	16: 44,205,073 (GRCm39)	M793K	probably benign	Het
Suco	T	C	1: 161,691,480 (GRCm39)		probably null	Het
Tarbp1	A	T	8: 127,174,290 (GRCm39)	W839R	probably damaging	Het
Trpc4	T	A	3: 54,173,495 (GRCm39)		probably benign	Het
Tubgcp5	T	C	7: 55,464,766 (GRCm39)	V549A	possibly damaging	Het
Ubap2	T	A	4: 41,226,308 (GRCm39)	T182S	probably benign	Het
Wrn	A	C	8: 33,800,730 (GRCm39)		probably benign	Het
Zc3h15	A	G	2: 83,492,536 (GRCm39)	Y337C	probably damaging	Het
Zfp292	T	A	4: 34,807,855 (GRCm39)	I1730F	possibly damaging	Het
Zfp609	A	G	9: 65,611,307 (GRCm39)	V552A	probably benign	Het

Other mutations in Rims1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Rims1	APN	1	22,507,323 (GRCm39)	missense	probably damaging	1.00
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
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

2014-01-21