Mutagenetix > Incidental Mutation

Incidental Mutation 'R0118:Rims1'

20903

Institutional Source

Beutler Lab

Gene Symbol

Rims1

Ensembl Gene

ENSMUSG00000041670

Gene Name

regulating synaptic membrane exocytosis 1

Synonyms

RIM1alpha, C030033M19Rik, RIM1, RIM1a

MMRRC Submission

038404-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R0118 (G1)

Quality Score

124

Status

Validated (trace)

Chromosome

Chromosomal Location

22356475-22845203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22416631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1037 (T1037A)

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 damaging
Transcript: ENSMUST00000081544
AA Change: T986A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: T986A

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: ENSMUST00000097809
AA Change: T1061A

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

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: T1061A

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

possibly damaging
Transcript: ENSMUST00000097810
AA Change: T1122A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: T1122A

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: T1150A

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

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: T1150A

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: T1037A

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

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: T1037A

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: T454A

Meta Mutation Damage Score

0.1444

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 89.3%
20x: 67.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	C	9: 30,823,040 (GRCm39)	R343G	probably damaging	Het
Asxl2	T	G	12: 3,546,923 (GRCm39)	V569G	probably damaging	Het
Azin2	A	C	4: 128,843,430 (GRCm39)	H85Q	probably damaging	Het
Cacna1a	C	T	8: 85,262,712 (GRCm39)	R324C	probably damaging	Het
Ccr3	C	A	9: 123,829,647 (GRCm39)	Y327*	probably null	Het
Cers2	T	C	3: 95,227,537 (GRCm39)	F55S	probably benign	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cntnap2	T	C	6: 45,037,326 (GRCm39)		probably null	Het
Cpn2	T	C	16: 30,079,186 (GRCm39)	R172G	probably benign	Het
Ctdnep1	T	C	11: 69,879,557 (GRCm39)		probably null	Het
Dennd3	T	A	15: 73,436,925 (GRCm39)	Y1051N	probably damaging	Het
Dmap1	T	G	4: 117,533,680 (GRCm39)	Y196S	probably damaging	Het
Entpd7	G	A	19: 43,692,751 (GRCm39)	W102*	probably null	Het
Frem2	A	T	3: 53,442,664 (GRCm39)	C2624*	probably null	Het
Gdpd3	A	G	7: 126,370,165 (GRCm39)	Y238C	probably damaging	Het
Gjb3	A	G	4: 127,220,451 (GRCm39)	V27A	probably damaging	Het
Kat6b	T	C	14: 21,720,042 (GRCm39)	F1465L	probably damaging	Het
Klra17	A	T	6: 129,808,552 (GRCm39)	M227K	probably benign	Het
Map6	A	G	7: 98,966,824 (GRCm39)	D348G	possibly damaging	Het
Mapkbp1	T	C	2: 119,855,696 (GRCm39)	S1472P	probably benign	Het
Megf6	C	A	4: 154,339,098 (GRCm39)	P545Q	probably damaging	Het
Mertk	C	T	2: 128,601,086 (GRCm39)	R357W	probably damaging	Het
Mesd	T	A	7: 83,544,835 (GRCm39)	I104N	probably damaging	Het
Mrm3	T	A	11: 76,140,781 (GRCm39)	V263E	possibly damaging	Het
Ndst4	T	A	3: 125,405,210 (GRCm39)	Y488*	probably null	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nfs1	T	C	2: 155,976,444 (GRCm39)	H150R	probably damaging	Het
Odad3	A	T	9: 21,906,353 (GRCm39)	N224K	probably benign	Het
Or1n1b	A	G	2: 36,780,035 (GRCm39)	M275T	probably benign	Het
Or8b56	T	C	9: 38,739,154 (GRCm39)	S50P	possibly damaging	Het
Or8g19	T	A	9: 39,055,399 (GRCm39)	M1K	probably null	Het
Or9q1	A	G	19: 13,804,929 (GRCm39)	F277S	possibly damaging	Het
Pcdh8	T	C	14: 80,004,848 (GRCm39)	Y1059C	probably damaging	Het
Pik3r5	T	A	11: 68,381,306 (GRCm39)	L164Q	probably damaging	Het
Polr3g	T	C	13: 81,824,240 (GRCm39)		probably benign	Het
Ppm1e	T	A	11: 87,122,564 (GRCm39)	K464N	probably benign	Het
Rpgrip1l	A	T	8: 91,996,750 (GRCm39)	I108N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Spem1	T	C	11: 69,712,371 (GRCm39)	K98E	possibly damaging	Het
St7l	T	C	3: 104,796,619 (GRCm39)	V237A	probably damaging	Het
Tbc1d16	T	C	11: 119,048,642 (GRCm39)	H337R	probably damaging	Het
Tbc1d32	T	A	10: 55,893,701 (GRCm39)	I1291F	probably benign	Het
Tnfaip6	G	T	2: 51,933,827 (GRCm39)	E61*	probably null	Het
Trib2	A	T	12: 15,843,929 (GRCm39)	W102R	probably damaging	Het
Uimc1	G	T	13: 55,233,457 (GRCm39)	N66K	probably damaging	Het
Vmn1r63	T	A	7: 5,805,838 (GRCm39)	T265S	probably benign	Het
Vps35	G	A	8: 86,021,582 (GRCm39)	T3I	probably benign	Het
Yeats2	T	A	16: 19,975,692 (GRCm39)	L63*	probably null	Het
Zfp282	A	G	6: 47,869,866 (GRCm39)	R304G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAATACCTTCTTCGGTGAGCTGC -3'
(R):5'- CTAGAGTTTCAGCTACGCTGACCTG -3'

Sequencing Primer
(F):5'- TCCTGATGTGAAGACCACAAG -3'
(R):5'- CAGCTACGCTGACCTGTAATTTATG -3'

Posted On

2013-04-11