Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4581001:Rimbp3'

556532

Institutional Source

Beutler Lab

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

RIM-BP3, LOC239731, LOC385766

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

PIT4581001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17210716 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 668 (S668N)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169803
AA Change: S668N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: S668N

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: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,343,832	H522R	probably benign	Het
Adcy8	A	T	15: 64,754,817	I724N	probably damaging	Het
BC117090	T	C	16: 36,322,932	I52V	probably benign	Het
Ctsj	A	T	13: 61,002,556	C210S	probably damaging	Het
Cyp2d12	A	G	15: 82,558,451	E365G	probably damaging	Het
Dbi	A	T	1: 120,119,912	V85E	probably damaging	Het
Dhrs7b	A	G	11: 60,851,897	I153M	possibly damaging	Het
Dock10	C	A	1: 80,505,446	C2096F	probably damaging	Het
Eid3	T	A	10: 82,867,755	I350K	probably damaging	Het
Fam83b	A	T	9: 76,491,152	F890I	probably damaging	Het
Fras1	G	A	5: 96,555,301	D308N	probably benign	Het
Ftsj3	T	C	11: 106,249,476	D822G	unknown	Het
Gabra5	T	C	7: 57,488,857	T148A	probably damaging	Het
Gad1	A	G	2: 70,599,667	D526G	probably benign	Het
Gm12184	A	G	11: 48,826,144	I69T	possibly damaging	Het
Gm21698	T	A	5: 25,987,352	T79S	probably benign	Het
Gon4l	T	G	3: 88,895,514	V1144G	probably damaging	Het
Ighv1-24	A	T	12: 114,773,183	N32K	probably benign	Het
Islr	T	C	9: 58,157,201	N341S	possibly damaging	Het
Mybph	A	G	1: 134,194,741	T175A	probably benign	Het
Mycn	T	C	12: 12,940,243	K51E	possibly damaging	Het
Myh14	T	C	7: 44,613,482	N1763D	probably benign	Het
Myrip	T	C	9: 120,467,517	S831P	probably damaging	Het
Neb	G	T	2: 52,288,802	A1314E	probably damaging	Het
Notch2	T	C	3: 98,104,462	Y599H	probably damaging	Het
Npr1	C	A	3: 90,462,257	G387V	probably damaging	Het
Olfr49	T	A	14: 54,282,538	D119V	probably damaging	Het
Orai2	G	A	5: 136,150,510	T223M	probably damaging	Het
Pcdhga5	A	G	18: 37,696,857	E786G	probably benign	Het
Pde6b	A	G	5: 108,428,508	T749A	probably benign	Het
Pdzrn3	A	G	6: 101,151,503	V734A	probably benign	Het
Pkd1l1	GCC	GCCC	11: 8,916,298		probably null	Het
Recql5	C	A	11: 115,932,856	K21N	possibly damaging	Het
Sdr42e1	A	T	8: 117,663,518	I128N	probably damaging	Het
Shprh	TAAAA	T	10: 11,192,494		probably null	Het
Slc15a2	A	T	16: 36,772,043	C251S	probably benign	Het
Slc17a4	A	T	13: 23,902,018	S329T	probably damaging	Het
Slc35a1	A	G	4: 34,669,501	V246A	possibly damaging	Het
Slc37a2	A	T	9: 37,237,405	S260R	probably benign	Het
Slco6d1	A	T	1: 98,423,325	I177L	possibly damaging	Het
Tmcc1	A	G	6: 116,043,456	V345A		Het
Tmod2	T	C	9: 75,597,301	Y12C	probably damaging	Het
Top2a	A	T	11: 99,002,964	W1035R	probably damaging	Het
Trpc1	A	G	9: 95,736,921	S126P	probably benign	Het
Ttn	A	G	2: 76,733,961	S28576P	probably damaging	Het
Vmn1r16	A	T	6: 57,322,873	W255R	probably benign	Het
Vmn2r5	T	A	3: 64,503,927	K407*	probably null	Het
Vps13b	G	T	15: 35,534,263	W908C	probably damaging	Het
Ykt6	A	G	11: 5,962,747	K150E	possibly damaging	Het
Zbtb2	A	G	10: 4,369,265	Y254H	possibly damaging	Het
Zfp217	A	G	2: 170,114,583	S832P	probably benign	Het
Zfp595	A	G	13: 67,317,885	S108P	probably benign	Het
Zfp786	A	T	6: 47,819,822	F727L	probably damaging	Het
Zzef1	G	A	11: 72,899,672	V2151I	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
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
R7962:Rimbp3	UTSW	16	17211046	missense	possibly damaging	0.71
R8071:Rimbp3	UTSW	16	17210863	missense	probably benign
Z1176:Rimbp3	UTSW	16	17209474	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCTGGCCAACTGGATGAAGAAG -3'
(R):5'- TCCTCAACGATAACTGGATTCTCC -3'

Sequencing Primer
(F):5'- CCAACTGGATGAAGAAGATGGC -3'
(R):5'- AACGATAACTGGATTCTCCTGCTGG -3'

Posted On

2019-06-07