Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01021:Rims1'

53413

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 #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

22356475-22845203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22525701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 407 (W407R)

Ref Sequence

ENSEMBL: ENSMUSP00000095419 (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: W407R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: W407R

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: W585R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: W585R

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: W407R

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

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: W407R

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: W407R

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

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: W407R

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: W407R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: W407R

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: W407R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: W407R

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,848 (GRCm39)	V80A	unknown	Het
Adam28	A	G	14: 68,879,563 (GRCm39)	S162P	probably benign	Het
Adamts14	G	T	10: 61,061,152 (GRCm39)	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,470,995 (GRCm39)		probably null	Het
B3galt5	C	A	16: 96,116,923 (GRCm39)	H185Q	probably benign	Het
Bod1l	A	G	5: 41,995,516 (GRCm39)		probably benign	Het
Ddx46	T	A	13: 55,814,145 (GRCm39)	Y700*	probably null	Het
Dph7	T	G	2: 24,861,935 (GRCm39)		probably null	Het
Eif1ad9	G	A	12: 88,296,042 (GRCm39)	G7R	unknown	Het
Fcho1	A	T	8: 72,166,167 (GRCm39)	Y354*	probably null	Het
Fnbp4	A	G	2: 90,608,013 (GRCm39)	M912V	probably benign	Het
Fpgt	T	A	3: 154,797,129 (GRCm39)	E42V	possibly damaging	Het
Frmd3	A	G	4: 73,992,357 (GRCm39)	I75V	possibly damaging	Het
Gm3278	G	T	14: 16,082,261 (GRCm39)	V159L	possibly damaging	Het
Gmds	T	C	13: 32,311,013 (GRCm39)	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,888,182 (GRCm39)	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,281,865 (GRCm39)	E102G	probably damaging	Het
Itga1	T	A	13: 115,133,536 (GRCm39)	Y458F	probably benign	Het
Kif20b	T	C	19: 34,915,660 (GRCm39)	V479A	possibly damaging	Het
Megf8	T	A	7: 25,037,799 (GRCm39)	W772R	probably benign	Het
Muc6	T	A	7: 141,217,075 (GRCm39)	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,050,343 (GRCm39)	S258P	probably damaging	Het
Padi3	T	C	4: 140,523,645 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,264,625 (GRCm39)	R897L	possibly damaging	Het
Scnn1b	G	T	7: 121,517,259 (GRCm39)	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,824,369 (GRCm39)	A89T	probably benign	Het
Tbk1	T	C	10: 121,387,177 (GRCm39)	E706G	probably benign	Het
Thra	A	G	11: 98,653,754 (GRCm39)	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,973,347 (GRCm39)	Y33*	probably null	Het
Usp6nl	T	A	2: 6,429,198 (GRCm39)	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,837,885 (GRCm39)	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,343,771 (GRCm39)	T485A	probably benign	Het
Zfat	T	C	15: 68,042,015 (GRCm39)	I840V	possibly damaging	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
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

2013-06-28