Mutagenetix > Incidental Mutations

Incidental Mutation 'R8071:Rimbp3'

628940

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: 0.247) question?

Stock #

R8071 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17210863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 717 (V717A)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000169803
AA Change: V717A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: V717A

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: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.5%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,623,929	E963*	probably null	Het
Acads	T	C	5: 115,113,167	E86G	probably benign	Het
Agmo	A	G	12: 37,398,729	T217A	probably damaging	Het
Arhgap39	A	G	15: 76,737,502	S300P	probably benign	Het
Casp12	T	C	9: 5,346,647	L58P	probably damaging	Het
Ccar2	T	C	14: 70,152,453	T24A	probably benign	Het
Ccndbp1	C	A	2: 121,014,565	T321K	unknown	Het
Cd200r3	G	A	16: 44,954,140	C172Y	probably damaging	Het
Chd2	T	A	7: 73,537,384	H9L	probably benign	Het
Cramp1l	T	A	17: 24,982,700	S603C	probably damaging	Het
Crtac1	C	T	19: 42,297,800	R448H	probably damaging	Het
Csmd2	A	T	4: 128,393,538	Y1022F		Het
Ctns	T	C	11: 73,184,934	Y363C	probably damaging	Het
D630044L22Rik	A	G	17: 25,960,144	T15A	possibly damaging	Het
Dhx38	A	C	8: 109,558,701	I444M	probably benign	Het
Dnah14	A	T	1: 181,615,894	I450F	possibly damaging	Het
Dpf1	T	C	7: 29,314,141	F245L	probably benign	Het
Efr3b	A	G	12: 3,982,898	V269A	probably benign	Het
Eprs	G	T	1: 185,394,456	V530L	possibly damaging	Het
Eps8l2	A	G	7: 141,342,947	N41S	probably damaging	Het
Erbb4	T	C	1: 68,396,311	I142M	probably damaging	Het
Fam160a1	T	C	3: 85,730,561	M144V	probably damaging	Het
Flnc	A	T	6: 29,457,446	D2381V	probably damaging	Het
Fndc1	T	A	17: 7,772,530	D778V	unknown	Het
Galnt3	A	G	2: 66,091,211	I492T	probably benign	Het
Gigyf2	T	C	1: 87,446,433	M1261T	probably damaging	Het
Haus8	A	G	8: 71,256,051	F126S	probably benign	Het
Hif3a	A	G	7: 17,048,761	L293S	probably damaging	Het
Ino80c	G	A	18: 24,106,650	T200I	unknown	Het
Jag1	T	A	2: 137,101,797	M160L	probably benign	Het
Kcnj12	C	A	11: 61,069,999	H374Q	probably damaging	Het
Lrrc27	A	G	7: 139,236,986	I433M	probably benign	Het
Lyzl4	C	T	9: 121,578,094	W123*	probably null	Het
Map2k4	A	T	11: 65,707,001	C264S		Het
Mmrn1	C	T	6: 60,944,524		probably benign	Het
Mug1	C	T	6: 121,873,672	T709I	probably benign	Het
Myo9a	T	A	9: 59,874,648	W1706R	probably benign	Het
Nlrp5	A	G	7: 23,418,444	E531G	probably damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Pcdhb11	A	C	18: 37,422,369	I251L	probably benign	Het
Per3	A	G	4: 151,028,813	S353P	probably damaging	Het
Piezo1	T	C	8: 122,487,011	E1738G	probably null	Het
Prr14l	T	C	5: 32,831,164	D329G	probably benign	Het
Ptpn23	G	T	9: 110,388,199	P863Q	probably damaging	Het
Ptpn23	G	T	9: 110,388,200	P863T	possibly damaging	Het
Ptprq	T	C	10: 107,644,035	K1125E	possibly damaging	Het
Rapgef2	T	G	3: 79,093,036	T351P	probably damaging	Het
Rbl2	A	G	8: 91,113,989	Y923C	probably damaging	Het
Rims1	C	T	1: 22,288,536	W182*	probably null	Het
Rnmt	A	G	18: 68,307,652	K129E	probably benign	Het
Ruvbl1	T	C	6: 88,473,126	F93S	probably damaging	Het
Scamp5	T	C	9: 57,443,686	Y231C	probably damaging	Het
Sfxn5	T	A	6: 85,267,939		probably null	Het
Skiv2l	A	T	17: 34,849,999	V8D	probably benign	Het
Slc12a1	T	C	2: 125,186,314	F510S	probably damaging	Het
Sowahb	T	C	5: 93,043,063	Y599C	probably damaging	Het
Speer4e	T	C	5: 14,937,097	N98S	probably damaging	Het
Stat3	T	C	11: 100,893,981	N553S	probably benign	Het
Sult6b2	A	T	6: 142,790,142	L242Q	probably damaging	Het
Tacc3	C	T	5: 33,663,825	R98W	possibly damaging	Het
Tuba4a	C	T	1: 75,216,951	R112H		Het
Ubr3	T	A	2: 69,988,876	S1337T	probably damaging	Het
Vmn2r69	A	T	7: 85,406,505	C808*	probably null	Het
Wnt16	G	A	6: 22,288,998	A105T	probably benign	Het
Zfp692	C	T	11: 58,307,734	S50L	probably damaging	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
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
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'- AGCAGCTGCAGCACTACAAG -3'
(R):5'- TCCATGTCCAAAGAAAGGCAAG -3'

Sequencing Primer
(F):5'- AGAATAAAGCCCTAAGTGACCTTAG -3'
(R):5'- ACATGGACTCTACCTCTGAGGAG -3'

Posted On

2020-06-30