Mutagenetix > Incidental Mutations

Incidental Mutation 'R5311:Rimbp3'

404866

Institutional Source

Beutler Lab

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

RIM-BP3, LOC239731, LOC385766

MMRRC Submission

042894-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5311 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17210844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 711 (T711A)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000169803
AA Change: T711A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: T711A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179034

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	A	G	5: 142,467,687	K137E	possibly damaging	Het
Atm	A	C	9: 53,518,623	V371G	probably benign	Het
Cacna2d3	A	G	14: 29,347,030	Y247H	probably damaging	Het
Ccdc180	T	C	4: 45,917,556	V927A	probably damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Edar	G	A	10: 58,607,435	P290S	possibly damaging	Het
Ext2	T	C	2: 93,696,261	I677V	probably benign	Het
Fam53a	A	G	5: 33,607,736	S209P	probably damaging	Het
Fshr	A	T	17: 89,011,013		probably null	Het
Gfm2	G	A	13: 97,163,151	A406T	probably damaging	Het
Gm14295	A	T	2: 176,810,672	I652L	probably benign	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm5431	T	A	11: 48,888,889	E402V	probably damaging	Het
Gm6899	GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC	GGAGGCCGCCCAGTGGCAGAGGC	11: 26,593,725		probably null	Het
Itih2	T	C	2: 10,110,535	D342G	probably benign	Het
Lgi2	A	T	5: 52,554,485	D164E	probably damaging	Het
Lrriq1	A	G	10: 103,214,587	I768T	probably damaging	Het
Map1a	C	A	2: 121,302,387	A990E	probably damaging	Het
Mdh1b	A	G	1: 63,720,004	V143A	probably benign	Het
Mrgprb3	C	T	7: 48,643,311	C164Y	probably damaging	Het
Mtpap	T	A	18: 4,386,328	V316E	probably damaging	Het
Mybpc3	T	A	2: 91,128,678	C655*	probably null	Het
Myh15	A	G	16: 49,165,841	E1558G	possibly damaging	Het
Mylk	A	G	16: 34,921,757	T880A	probably benign	Het
Nckap1	T	A	2: 80,540,122	D408V	probably damaging	Het
Nos3	A	T	5: 24,377,345	H605L	probably benign	Het
Nrxn2	C	A	19: 6,531,398	D411E	probably benign	Het
Olfr1057	T	A	2: 86,374,750	I221L	possibly damaging	Het
Olfr366	T	C	2: 37,219,621	V44A	probably benign	Het
Pde4d	C	A	13: 109,632,864	P29T	probably benign	Het
Pde4d	C	T	13: 109,632,865	P29L	probably benign	Het
Pkhd1	A	G	1: 20,565,870	V412A	possibly damaging	Het
Rev1	T	A	1: 38,079,393	I480L	probably benign	Het
RP23-191E1.1	T	A	3: 106,297,468		noncoding transcript	Het
Serpina11	A	T	12: 103,985,962	I183N	probably damaging	Het
Siglec1	T	C	2: 131,079,316	H645R	probably damaging	Het
Skint7	G	A	4: 111,980,304	R93H	probably damaging	Het
Slfn8	T	C	11: 83,004,084	E632G	probably damaging	Het
Tmem8b	G	A	4: 43,673,992	V208I	probably benign	Het
Trps1	G	A	15: 50,664,760	T658I	probably damaging	Het
Ubash3a	A	G	17: 31,219,717	T287A	probably damaging	Het
Ugt2b35	G	A	5: 87,011,280	W444*	probably null	Het
Vmn1r219	T	A	13: 23,162,893	V84D	probably damaging	Het
Vmn2r10	T	C	5: 109,006,255	Y61C	probably damaging	Het
Vmn2r104	G	A	17: 20,029,901	P703S	probably damaging	Het
Wdsub1	T	A	2: 59,878,529		probably benign	Het
Zfp667	A	G	7: 6,305,716	Q461R	probably benign	Het
Zfp941	C	A	7: 140,811,959	G496*	probably null	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
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
R6773:Rimbp3	UTSW	16	17209015	missense	probably damaging	1.00
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'- AACTCGAAGCCACTAGCCTG -3'
(R):5'- CCACATGGACTCTACCTCTGAG -3'

Sequencing Primer
(F):5'- CTGCTGCAACAAGAGGGATATGC -3'
(R):5'- CTCTGAGGAGGAATTTGACTGTGAAC -3'

Posted On

2016-07-22