Mutagenetix > Incidental Mutations

Incidental Mutation 'R6773:Rimbp3'

543645

Institutional Source

Beutler Lab

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

RIM-BP3, LOC239731, LOC385766

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R6773 (G1)

Quality Score

62.0073

Status

Validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17209015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 101 (E101V)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169803]

AlphaFold

Q3V0F0

Predicted Effect

probably damaging
Transcript: ENSMUST00000169803
AA Change: E101V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: E101V

Domain	Start	End	E-Value	Type
coiled coil region	25	56	N/A	INTRINSIC
coiled coil region	84	145	N/A	INTRINSIC
low complexity region	308	324	N/A	INTRINSIC
coiled coil region	395	431	N/A	INTRINSIC
coiled coil region	547	610	N/A	INTRINSIC
low complexity region	688	701	N/A	INTRINSIC
low complexity region	769	780	N/A	INTRINSIC
SH3	825	888	7.58e-8	SMART
low complexity region	913	924	N/A	INTRINSIC
FN3	980	1052	2.21e-3	SMART
FN3	1073	1160	1.91e1	SMART
low complexity region	1236	1243	N/A	INTRINSIC
SH3	1423	1487	5.08e-2	SMART
SH3	1539	1602	5.97e-6	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

98% (44/45)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null mutation display infertility with impaired spermiogenesis and defects in sperm head and flagellum morphology. [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
Aqp6	A	G	15: 99,602,677	D161G	probably damaging	Het
Aqr	A	T	2: 114,148,996	N319K	possibly damaging	Het
Asns	C	A	6: 7,676,284	R424L	probably benign	Het
Atp4a	T	C	7: 30,715,377	V197A	probably damaging	Het
Ccdc70	A	G	8: 21,973,305	E37G	probably damaging	Het
Ccdc88b	A	T	19: 6,849,041	V1102E	possibly damaging	Het
Cd82	G	A	2: 93,421,876	A130V	probably benign	Het
Cfap46	T	C	7: 139,642,561		probably benign	Het
Cnot6l	A	C	5: 96,094,299	C188W	probably damaging	Het
Cxcr6	A	T	9: 123,810,290	T119S	possibly damaging	Het
Dok7	G	A	5: 35,077,184	R193H	probably damaging	Het
Dpy19l1	A	T	9: 24,440,772	S386T	probably damaging	Het
Frem3	A	C	8: 80,611,815	T246P	probably damaging	Het
Gm29666	A	T	15: 84,914,159	I67K	unknown	Het
Gm9774	T	A	3: 92,429,249	I49F	probably damaging	Het
Gpr153	T	A	4: 152,279,300	V59E	probably damaging	Het
Inpp4b	G	A	8: 81,856,620		probably benign	Het
Kcnj13	T	C	1: 87,386,760	I247V	possibly damaging	Het
Klri1	C	T	6: 129,703,547	V91M	possibly damaging	Het
M1ap	T	A	6: 82,968,080	D118E	probably damaging	Het
Map4	T	C	9: 110,034,925	V406A	probably benign	Het
Nedd4l	T	C	18: 65,167,551	V369A	probably benign	Het
Olfr206	A	T	16: 59,345,216	L162I	probably damaging	Het
Otud4	A	G	8: 79,643,806	Y71C	possibly damaging	Het
Plcl1	A	G	1: 55,751,302	N1044D	probably benign	Het
Ppp4r3b	T	A	11: 29,205,639	M114K	probably benign	Het
Prune1	T	C	3: 95,263,771	D114G	probably damaging	Het
Rad54l2	A	T	9: 106,693,317	V1268D	probably benign	Het
Rbbp6	A	G	7: 122,999,355		probably benign	Het
Rit1	C	T	3: 88,726,369		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Homo
Shisa9	A	G	16: 11,985,028	T150A	probably damaging	Het
Smpdl3a	T	C	10: 57,802,437	V112A	probably damaging	Het
Strada	T	A	11: 106,164,907	I305F	probably damaging	Het
Svep1	C	T	4: 58,049,146	E3454K	possibly damaging	Het
Tfap2a	T	A	13: 40,728,754	N25I	probably damaging	Het
Tmem259	T	C	10: 79,977,588	D519G	possibly damaging	Het
Tns1	T	C	1: 73,919,707	Q445R	probably damaging	Het
Topbp1	A	G	9: 103,343,692	D20G	possibly damaging	Het
Trbv5	G	T	6: 41,062,617	W52L	probably damaging	Het
Trpc6	A	T	9: 8,634,057	H379L	probably damaging	Het
Tulp1	T	C	17: 28,362,902	K193E	probably damaging	Het
Unc80	T	C	1: 66,651,543	V2459A	probably benign	Het
Vps50	T	C	6: 3,592,560	V731A	probably benign	Het

Other mutations in Rimbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rimbp3	APN	16	17209743	missense	probably benign	0.01
IGL00786:Rimbp3	APN	16	17211688	missense	probably damaging	0.99
IGL01411:Rimbp3	APN	16	17211094	missense	probably damaging	1.00
IGL01434:Rimbp3	APN	16	17211702	missense	probably benign	0.13
IGL01895:Rimbp3	APN	16	17211436	missense	probably damaging	0.99
IGL02322:Rimbp3	APN	16	17211615	missense	probably benign	0.00
IGL02649:Rimbp3	APN	16	17209608	nonsense	probably null
IGL03285:Rimbp3	APN	16	17213232	missense	probably benign	0.16
PIT4581001:Rimbp3	UTSW	16	17210716	missense	possibly damaging	0.76
R0279:Rimbp3	UTSW	16	17209453	missense	probably benign	0.00
R0465:Rimbp3	UTSW	16	17211780	missense	possibly damaging	0.86
R0605:Rimbp3	UTSW	16	17211699	missense	probably damaging	0.99
R0674:Rimbp3	UTSW	16	17212737	missense	probably benign	0.02
R1676:Rimbp3	UTSW	16	17211113	missense	probably benign	0.13
R1780:Rimbp3	UTSW	16	17212632	missense	probably benign
R1946:Rimbp3	UTSW	16	17210427	missense	probably benign	0.10
R2113:Rimbp3	UTSW	16	17209675	missense	probably benign	0.00
R3847:Rimbp3	UTSW	16	17210299	missense	probably benign	0.13
R3849:Rimbp3	UTSW	16	17210299	missense	probably benign	0.13
R3850:Rimbp3	UTSW	16	17210299	missense	probably benign	0.13
R4355:Rimbp3	UTSW	16	17209692	missense	possibly damaging	0.56
R4646:Rimbp3	UTSW	16	17213098	missense	probably damaging	0.99
R4669:Rimbp3	UTSW	16	17209189	missense	possibly damaging	0.88
R4732:Rimbp3	UTSW	16	17210601	missense	possibly damaging	0.94
R4733:Rimbp3	UTSW	16	17210601	missense	possibly damaging	0.94
R5025:Rimbp3	UTSW	16	17209807	missense	probably damaging	0.99
R5039:Rimbp3	UTSW	16	17213331	missense	probably damaging	0.99
R5177:Rimbp3	UTSW	16	17209917	missense	possibly damaging	0.85
R5311:Rimbp3	UTSW	16	17210844	missense	probably benign	0.00
R5942:Rimbp3	UTSW	16	17211888	missense	probably benign	0.00
R6063:Rimbp3	UTSW	16	17210917	missense	probably damaging	1.00
R6092:Rimbp3	UTSW	16	17212270	missense	probably damaging	1.00
R6126:Rimbp3	UTSW	16	17212276	missense	probably benign	0.25
R6288:Rimbp3	UTSW	16	17212908	missense	probably benign	0.22
R6446:Rimbp3	UTSW	16	17212929	missense	probably benign	0.00
R7017:Rimbp3	UTSW	16	17209746	missense	probably benign	0.04
R7043:Rimbp3	UTSW	16	17211108	missense	probably damaging	1.00
R7048:Rimbp3	UTSW	16	17210326	missense	probably benign	0.20
R7378:Rimbp3	UTSW	16	17211204	missense	probably benign
R7440:Rimbp3	UTSW	16	17213201	missense	possibly damaging	0.78
R7788:Rimbp3	UTSW	16	17212704	missense	probably benign	0.00
R7879:Rimbp3	UTSW	16	17211046	missense	possibly damaging	0.71
R8071:Rimbp3	UTSW	16	17210863	missense	probably benign
R8272:Rimbp3	UTSW	16	17209105	missense	possibly damaging	0.85
R8419:Rimbp3	UTSW	16	17213022	missense	probably damaging	0.97
R8819:Rimbp3	UTSW	16	17210907	missense	probably benign	0.17
R8830:Rimbp3	UTSW	16	17209006	missense	probably damaging	0.98
R8936:Rimbp3	UTSW	16	17213020	missense	probably benign
R8982:Rimbp3	UTSW	16	17209647	missense	probably benign	0.11
R9365:Rimbp3	UTSW	16	17208756	missense	possibly damaging	0.93
Z1176:Rimbp3	UTSW	16	17209474	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGCGGCCACAATGACAAAG -3'
(R):5'- TAAGGAATAGCTGGCGCTCC -3'

Sequencing Primer
(F):5'- ACTACGGGCAGAGCTGG -3'
(R):5'- AATAGCTGGCGCTCCACGTC -3'

Posted On

2019-04-22