Mutagenetix > Incidental Mutations

Incidental Mutation 'R8272:Rimbp3'

637808

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 #

R8272 (G1)

Quality Score

212.009

Status

Not validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17209105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 131 (V131A)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169803
AA Change: V131A

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: V131A

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 104,026,154	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,931,397	E90*	probably null	Het
Abca15	A	G	7: 120,407,442	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,816,154	A123D	probably damaging	Het
Asmt	A	T	X: 170,672,725	D20V	possibly damaging	Het
BC067074	A	T	13: 113,368,355	D1979V		Het
Bid	T	C	6: 120,900,215	E55G	probably damaging	Het
Brd3	A	G	2: 27,461,713	V176A	probably benign	Het
Btnl2	G	T	17: 34,356,301		probably null	Het
Card11	A	G	5: 140,890,039	S562P	probably damaging	Het
Casp8	T	G	1: 58,833,742	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064	R157H	probably damaging	Het
Cfap45	G	A	1: 172,527,839	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,103,736	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175	P333L	possibly damaging	Het
Ctnna3	T	G	10: 65,002,598	V818G	probably damaging	Het
Cyp4f18	G	T	8: 71,989,091	L456M	probably benign	Het
Ddx50	A	G	10: 62,621,477	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,851,754	Q91K	probably benign	Het
Dnah11	T	A	12: 118,111,017	T1367S	probably benign	Het
Fam98b	T	A	2: 117,262,854	C183S	probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,559,760	S194A	probably benign	Het
Flrt3	G	T	2: 140,660,697	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,723,946	Y527H	possibly damaging	Het
Gramd1b	T	C	9: 40,304,524	T677A	probably benign	Het
Grm8	A	T	6: 27,363,282	S745T	probably damaging	Het
Kctd8	T	C	5: 69,110,460	K436E	probably benign	Het
Klf5	G	T	14: 99,302,104	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,303,668	V505M	unknown	Het
Letm2	A	G	8: 25,586,656	L310P	probably damaging	Het
Lrrc16a	T	G	13: 24,036,579	H1054P	probably benign	Het
Lrrc4	T	C	6: 28,662,193	H174R	unknown	Het
Myh11	T	C	16: 14,218,854	S995G		Het
Myh7b	A	T	2: 155,632,904	E1787D	probably damaging	Het
Myoc	T	C	1: 162,639,426	S55P	probably benign	Het
Naaladl2	T	C	3: 24,058,202	Q572R	probably damaging	Het
Nanog	T	A	6: 122,711,777	S131T	probably benign	Het
Nifk	A	G	1: 118,332,404	K230E	probably benign	Het
Nlrp10	A	G	7: 108,925,896	S126P	probably benign	Het
Npc1l1	T	A	11: 6,229,327	K28*	probably null	Het
Olfr1454	G	A	19: 13,063,431	V7M	possibly damaging	Het
Olfr451-ps1	A	G	6: 42,801,104	D121G	probably damaging	Het
Pcdhac2	T	A	18: 37,146,189	C741S	probably benign	Het
Pcx	A	T	19: 4,601,730	N45I	probably damaging	Het
Peak1	A	G	9: 56,258,898	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,516,736	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,688,530	A726V	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rrp1b	A	G	17: 32,057,189	K570R	probably benign	Het
Serpinb1a	A	T	13: 32,845,737	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,228,816	L1076S	probably damaging	Het
Sspo	A	T	6: 48,448,519	T25S	probably benign	Het
Syvn1	G	A	19: 6,047,941	R3H	probably damaging	Het
Tead2	A	G	7: 45,228,742	E280G	probably benign	Het
Tmem263	T	A	10: 85,114,567	V74E	possibly damaging	Het
Tmem38b	T	A	4: 53,854,332	L188Q	probably damaging	Het
Tmod4	C	T	3: 95,125,860	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,282,265	E62V	probably benign	Het
Trim27	G	A	13: 21,180,610	C39Y	probably benign	Het
Vmn2r110	A	G	17: 20,596,228	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,350,078	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,947,609	F79L	probably benign	Het
Vps13a	A	G	19: 16,749,845		probably null	Het
Zdbf2	A	G	1: 63,305,983	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,243,867	S718A	probably damaging	Het
Zfp78	A	G	7: 6,373,214	T41A	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
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'- TTTCGCTACCCAGACGCG -3'
(R):5'- AATAGCTGGCGCTCCACGTC -3'

Posted On

2020-07-28