Mutagenetix > Incidental Mutations

Incidental Mutation 'R7879:Rimbp3'

608667

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 #

R7879 (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 17211046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 778 (V778A)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169803
AA Change: V778A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: V778A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,502,852	I81T	probably benign	Het
5430419D17Rik	T	A	7: 131,243,142	V588E	probably damaging	Het
Acnat2	G	A	4: 49,383,299	P85S	probably damaging	Het
Akr1c19	G	A	13: 4,236,224	V74M	probably damaging	Het
Alb	C	A	5: 90,472,648	T539K	probably benign	Het
B4galnt2	G	A	11: 95,869,397	T268I	possibly damaging	Het
Bcl7b	G	A	5: 135,177,132	E58K	possibly damaging	Het
Calr3	C	T	8: 72,424,643	S372N	unknown	Het
Cdh20	A	T	1: 104,947,322		probably null	Het
Cdh7	A	C	1: 110,048,947	E114A	probably benign	Het
Cep70	A	G	9: 99,262,633	R74G	possibly damaging	Het
Chrna6	A	G	8: 27,407,081	F256S	probably damaging	Het
Cic	A	G	7: 25,285,126	T996A	probably benign	Het
Clstn2	A	G	9: 97,469,764	V536A	possibly damaging	Het
Csmd1	A	T	8: 16,391,806	M348K	probably benign	Het
Dnah11	A	C	12: 118,041,009	D2192E	probably damaging	Het
Dnhd1	A	G	7: 105,703,439	I2600V	probably benign	Het
Dock3	A	C	9: 106,908,501	S185A	probably benign	Het
Dock4	A	T	12: 40,730,084	D628V	possibly damaging	Het
Dzank1	A	T	2: 144,491,798	S371T	probably benign	Het
Fam83b	A	T	9: 76,492,455	N455K	possibly damaging	Het
Fcrlb	T	C	1: 170,908,796	Y137C	probably damaging	Het
Gtf2i	G	A	5: 134,266,617	T327M	possibly damaging	Het
Hspa5	T	A	2: 34,775,929	M595K	probably benign	Het
Htt	C	T	5: 34,823,908	A875V	probably benign	Het
Hvcn1	G	A	5: 122,238,638		probably null	Het
Igsf10	A	G	3: 59,330,724	S679P	probably damaging	Het
Itsn2	A	G	12: 4,701,265	H1285R	probably benign	Het
Kcnq4	T	C	4: 120,702,435	T523A	probably benign	Het
Kif6	T	A	17: 49,832,186	I562N	probably benign	Het
Klhl9	C	A	4: 88,720,338	W555C	probably damaging	Het
Krt78	T	C	15: 101,948,189	T423A	probably benign	Het
Mapk10	C	T	5: 102,963,496	V391I	probably benign	Het
Noa1	T	C	5: 77,297,197	M592V	probably benign	Het
Npy5r	A	G	8: 66,681,316	M275T	possibly damaging	Het
Nuak2	T	A	1: 132,331,957	V499E	probably benign	Het
Olfr1269	A	T	2: 90,118,841	C252*	probably null	Het
Olfr806	T	C	10: 129,738,690	I76V	probably benign	Het
Otogl	T	C	10: 107,777,109	E2052G	probably benign	Het
Pard3b	T	A	1: 62,159,511	C253S	possibly damaging	Het
Pclo	T	C	5: 14,677,214	S2029P	unknown	Het
Plekhg3	A	G	12: 76,565,569	I401M	probably damaging	Het
Polg	A	T	7: 79,450,644	C1140S	probably benign	Het
Prl7c1	A	T	13: 27,778,834	L62H	probably damaging	Het
Psmf1	T	A	2: 151,734,243	E115V	probably benign	Het
Ptpn9	A	T	9: 57,056,726	N381I	possibly damaging	Het
Pzp	A	G	6: 128,489,016	S1234P	probably benign	Het
Qrich1	A	G	9: 108,559,286	T728A	possibly damaging	Het
Ralgps2	C	A	1: 156,829,066	A323S	probably benign	Het
Scn1a	A	T	2: 66,286,005	L430*	probably null	Het
Sema7a	A	T	9: 57,955,080	I189F	probably damaging	Het
Slc22a8	T	C	19: 8,594,022	I39T	probably benign	Het
Stap2	T	C	17: 56,002,023	T115A	probably benign	Het
Stmn4	A	G	14: 66,357,939	I138V	probably benign	Het
Suds3	C	T	5: 117,098,270		probably null	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tet1	A	C	10: 62,879,046	D323E	probably benign	Het
Tia1	A	G	6: 86,424,365	D140G	probably damaging	Het
Trio	C	T	15: 27,851,924	R827H	possibly damaging	Het
Ttn	A	G	2: 76,795,053		probably null	Het
Unc80	T	C	1: 66,510,707	V708A	probably benign	Het
Vmn1r194	A	T	13: 22,244,602	T130S	probably benign	Het
Wfikkn2	A	G	11: 94,238,929	C129R	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	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
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'- GAAGAACGTGTATTACCTTTGCC -3'
(R):5'- GCTTGCCTTGACAATGCTCAC -3'

Sequencing Primer
(F):5'- TTTGCCTACCAGGGACATACAG -3'
(R):5'- CTAGGCCCTTCAAATGGATTGTAGC -3'

Posted On

2019-12-20