Mutagenetix > Incidental Mutation

Incidental Mutation 'R9799:Rimbp3'

735125

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

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R9799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17209777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 355 (E355G)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169803
AA Change: E355G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: E355G

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: 99.8%
10x: 99.5%
20x: 98.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,533,775	Y1309C	probably benign	Het
Adcy2	T	C	13: 68,620,842	T1056A	probably benign	Het
Adcy2	T	A	13: 68,657,370	R826S	probably damaging	Het
Agxt	T	C	1: 93,135,348	W19R	probably benign	Het
Akr1b8	G	A	6: 34,356,343	E52K	possibly damaging	Het
Arhgef10	T	C	8: 14,940,268	Y248H	probably damaging	Het
Arhgef38	T	C	3: 133,149,630	D232G	unknown	Het
Arid4b	T	C	13: 14,184,382	S668P	probably benign	Het
Ccdc136	T	A	6: 29,417,506	S775R	probably damaging	Het
Ccl25	T	C	8: 4,327,799	F20L	unknown	Het
Cr2	T	A	1: 195,160,680	H218L	probably benign	Het
Csnka2ip	T	C	16: 64,478,309	K564R	unknown	Het
Cyp2r1	A	G	7: 114,551,972	F371L	probably benign	Het
Ddx50	A	T	10: 62,634,033	F392I	probably damaging	Het
Dnah7a	T	C	1: 53,518,809	T2149A	probably benign	Het
Emx2	A	G	19: 59,459,604	Y130C	possibly damaging	Het
Erbin	T	C	13: 103,834,876	D744G	probably benign	Het
Gcm2	T	C	13: 41,105,448	N140S	probably damaging	Het
Gnai2	C	T	9: 107,635,181	A13T	probably benign	Het
Gpr150	T	C	13: 76,056,517	Y103C	possibly damaging	Het
Gstp2	A	G	19: 4,041,901		probably null	Het
Kdr	A	G	5: 75,957,092	I667T	possibly damaging	Het
Lpin1	A	G	12: 16,562,399	I534T		Het
Lrrtm3	T	A	10: 64,089,970		probably benign	Het
Meiob	C	T	17: 24,823,600	T134I	probably benign	Het
Msh2	G	T	17: 87,717,505	A604S	probably damaging	Het
Mterf3	T	C	13: 66,914,716	T319A	possibly damaging	Het
Myo3a	C	T	2: 22,600,169	T1514I	probably damaging	Het
Ndfip2	T	C	14: 105,258,965	M98T	possibly damaging	Het
Nfatc2ip	A	G	7: 126,390,567	V215A	probably damaging	Het
Odf3	A	T	7: 140,850,793	E254D	probably benign	Het
Olfr228	A	T	2: 86,483,388	M118K	probably damaging	Het
Olfr596	A	T	7: 103,309,858	T46S	probably damaging	Het
Pabpc6	C	T	17: 9,669,185	E146K	probably damaging	Het
Pde3b	A	G	7: 114,523,378	Y727C	probably damaging	Het
Pemt	A	G	11: 60,046,348	F30L	possibly damaging	Het
Plch1	A	G	3: 63,698,170	S1438P	possibly damaging	Het
Pnma2	T	A	14: 66,916,560	H144Q	probably benign	Het
Ppp1r14b	A	G	19: 6,975,457	N70S	possibly damaging	Het
Psmd1	T	A	1: 86,126,514	M725K	possibly damaging	Het
Rab3gap1	A	G	1: 127,930,752	K533E	probably benign	Het
Rb1cc1	C	A	1: 6,244,902	H426Q	probably damaging	Het
Rxfp1	A	G	3: 79,670,875	F170L	probably damaging	Het
Sema3f	G	T	9: 107,685,363	A473E	probably damaging	Het
Serpinb3a	T	G	1: 107,047,162	I214L	probably benign	Het
Siglec1	G	T	2: 131,074,021	P1307Q	probably damaging	Het
Srd5a2	A	C	17: 74,024,540	I154S	possibly damaging	Het
Sugp1	A	G	8: 70,070,418	E537G	probably damaging	Het
Tbc1d30	T	C	10: 121,306,169	E91G	possibly damaging	Het
Tiparp	A	T	3: 65,547,552	N373Y	probably benign	Het
Tmem217	A	C	17: 29,526,258	I166S	probably damaging	Het
Top1	T	A	2: 160,721,486	Y746N	probably damaging	Het
Tubb2a	C	T	13: 34,076,624	D31N	probably benign	Het
Utrn	T	G	10: 12,709,992	I1014L	probably benign	Het
Vtn	T	C	11: 78,501,799	I401T	probably benign	Het
Wwc2	G	T	8: 47,868,560	H506Q	unknown	Het
Xab2	G	T	8: 3,618,182	T132N	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
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'- GGCTTCTGAATCCGAGGTAAGG -3'
(R):5'- CCTCAGATTGGTCTCCTGAAGC -3'

Sequencing Primer
(F):5'- AATCCGAGGTAAGGGCCCC -3'
(R):5'- CTGTCTTCAAGGCGCTGAG -3'

Posted On

2022-11-14