Mutagenetix > Incidental Mutation

Incidental Mutation 'R9726:Rims1'

731016

Institutional Source

Beutler Lab

Gene Symbol

Rims1

Ensembl Gene

ENSMUSG00000041670

Gene Name

regulating synaptic membrane exocytosis 1

Synonyms

RIM1alpha, C030033M19Rik, RIM1, RIM1a

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R9726 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22356475-22845203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22669493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 105 (W105L)

Ref Sequence

ENSEMBL: ENSMUSP00000095420 (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: W105L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080259
Gene: ENSMUSG00000041670
AA Change: W105L

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: W105L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095417
Gene: ENSMUSG00000041670
AA Change: W105L

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

possibly damaging
Transcript: ENSMUST00000097809
AA Change: W105L

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095418
Gene: ENSMUSG00000041670
AA Change: W105L

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: W105L

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095419
Gene: ENSMUSG00000041670
AA Change: W105L

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 null
Transcript: ENSMUST00000097811
AA Change: W105L

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095420
Gene: ENSMUSG00000041670
AA Change: W105L

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: W105L

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110928
Gene: ENSMUSG00000041670
AA Change: W105L

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

possibly damaging
Transcript: ENSMUST00000218140
AA Change: W105L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,325,650 (GRCm39)	V122A	probably damaging	Het
Ago2	T	C	15: 72,998,919 (GRCm39)	Y226C	probably damaging	Het
Akap9	A	G	5: 4,053,757 (GRCm39)	K1574R	probably benign	Het
Apob	T	C	12: 8,056,926 (GRCm39)	Y1803H	probably damaging	Het
Atosb	T	C	4: 43,034,991 (GRCm39)	D302G	probably damaging	Het
Bex6	A	T	16: 32,005,243 (GRCm39)	D17V	probably damaging	Het
Cd72	T	G	4: 43,452,641 (GRCm39)		probably null	Het
Cdcp2	C	A	4: 106,959,936 (GRCm39)	S117Y	probably damaging	Het
Cenpx	A	G	11: 120,603,328 (GRCm39)	L22P	unknown	Het
Cep135	A	G	5: 76,741,151 (GRCm39)	T76A	probably benign	Het
Cps1	A	T	1: 67,195,395 (GRCm39)	Q272L	probably benign	Het
Cul4a	C	T	8: 13,156,208 (GRCm39)	P55S	probably benign	Het
Cyp2f2	C	T	7: 26,821,411 (GRCm39)	T108I	probably damaging	Het
Dapk1	T	C	13: 60,898,948 (GRCm39)	V806A	probably benign	Het
Dgki	T	C	6: 37,276,858 (GRCm39)	H9R	unknown	Het
Dmxl2	A	T	9: 54,322,996 (GRCm39)	S1289T	probably benign	Het
Dock8	T	A	19: 25,154,374 (GRCm39)	V1691D	probably damaging	Het
Dock9	A	C	14: 121,835,149 (GRCm39)	L1280R	possibly damaging	Het
Dync2h1	G	A	9: 7,077,999 (GRCm39)	S2901F	possibly damaging	Het
Fkbp8	A	G	8: 70,987,529 (GRCm39)	K380E	probably damaging	Het
Ggta1	T	C	2: 35,292,422 (GRCm39)	Y295C	probably damaging	Het
Gm7145	A	G	1: 117,913,706 (GRCm39)	N196S	possibly damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Ighv11-1	T	A	12: 113,945,623 (GRCm39)	I77L	probably benign	Het
Kcnmb3	A	G	3: 32,536,512 (GRCm39)	V72A	possibly damaging	Het
Kel	C	T	6: 41,678,971 (GRCm39)	G164D	probably damaging	Het
Krba1	C	A	6: 48,389,298 (GRCm39)	T606N	possibly damaging	Het
Lig3	T	C	11: 82,674,420 (GRCm39)	L82P	possibly damaging	Het
Limd1	T	C	9: 123,308,984 (GRCm39)	S228P	probably benign	Het
Mlf2	C	T	6: 124,911,621 (GRCm39)	R157W	probably benign	Het
Naxe	T	C	3: 87,965,719 (GRCm39)	S27G	probably benign	Het
Oprm1	T	A	10: 6,929,694 (GRCm39)	C345S	probably benign	Het
Or4c108	T	A	2: 88,804,221 (GRCm39)	T5S	probably benign	Het
Or6c210	A	G	10: 129,495,920 (GRCm39)	I82V	possibly damaging	Het
Oscp1	C	A	4: 125,970,626 (GRCm39)	D138E	probably benign	Het
Panx3	T	A	9: 37,572,992 (GRCm39)	Y186F	probably damaging	Het
Pip5kl1	T	C	2: 32,473,391 (GRCm39)	Y343H	probably damaging	Het
Rasgef1b	T	C	5: 99,382,349 (GRCm39)	T214A	probably damaging	Het
Serpina3f	C	T	12: 104,184,698 (GRCm39)	P281S	probably damaging	Het
Sgsm1	T	C	5: 113,458,418 (GRCm39)	K20R	probably benign	Het
Sigirr	A	G	7: 140,672,123 (GRCm39)	L274P	probably damaging	Het
Slc44a1	T	C	4: 53,491,410 (GRCm39)	V49A	probably benign	Het
Spata31h1	T	C	10: 82,118,605 (GRCm39)	S4802G	unknown	Het
Sstr1	G	A	12: 58,259,484 (GRCm39)	D36N	probably benign	Het
Stab2	T	A	10: 86,790,095 (GRCm39)	D557V	probably benign	Het
Topaz1	GCAGGGGGATGAGAAGGTA	G	9: 122,603,934 (GRCm39)		probably benign	Het
Topaz1	CAGGGGGATGAGAAGGTAAAG	CAG	9: 122,603,935 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,912,752 (GRCm39)	Q101K	unknown	Het
Vmn1r185	T	A	7: 26,310,783 (GRCm39)	I241F	probably damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfy1	A	G	Y: 725,476 (GRCm39)	F763S	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
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
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'- GCAAGACAGGGGTAGCTTTG -3'
(R):5'- TGTGACAAGTGTCTTGCTTACC -3'

Sequencing Primer
(F):5'- ACACACAGGGCTCCTCTGAATG -3'
(R):5'- CTGCTTTGCTGAGCCATCTTAAAG -3'

Posted On

2022-10-06