Mutagenetix > Incidental Mutations

Incidental Mutation 'R3850:Rimbp3'

275899

Institutional Source

Beutler Lab

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

RIM-BP3, LOC239731, LOC385766

MMRRC Submission

040898-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R3850 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17210299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 529 (H529L)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000169803
AA Change: H529L

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: H529L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179034

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

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
1700066B19Rik	G	A	18: 35,728,714	V84I	probably benign	Het
Abca1	C	T	4: 53,061,481		probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Adamts17	T	A	7: 66,840,467	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,418,546	Q1564L	probably damaging	Het
Als2cl	A	G	9: 110,889,309		probably benign	Het
Antxrl	C	A	14: 34,067,381	H309Q	probably benign	Het
Ap1g2	T	C	14: 55,104,906	M165V	probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cdh16	T	C	8: 104,617,841	D22G	possibly damaging	Het
Cdh17	A	G	4: 11,785,201	D331G	probably damaging	Het
Csmd1	C	G	8: 16,079,922	V1729L	probably benign	Het
Cul5	T	G	9: 53,617,986	M800L	probably benign	Het
Cwf19l1	T	C	19: 44,131,498	Y68C	probably benign	Het
Dst	C	T	1: 34,189,274	Q1658*	probably null	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fan1	T	C	7: 64,372,371	Y378C	probably damaging	Het
Fat4	T	A	3: 39,007,261	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,267,149	S46P	probably benign	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Hoxc10	T	C	15: 102,967,444	V196A	probably benign	Het
Hsf4	T	C	8: 105,270,837	F101L	probably damaging	Het
Hydin	T	C	8: 110,563,929	I3340T	probably damaging	Het
Igfbpl1	C	T	4: 45,826,426	R123H	probably benign	Het
Mov10l1	A	T	15: 89,005,695		probably null	Het
Mrc2	T	C	11: 105,292,903		probably null	Het
Muc5b	G	A	7: 141,862,638	C3107Y	possibly damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Nek1	T	A	8: 61,072,315	F596I	probably damaging	Het
Nfasc	T	C	1: 132,631,733	T214A	probably damaging	Het
Olfr1107	T	A	2: 87,071,966	H56L	possibly damaging	Het
Olfr1245	T	C	2: 89,575,034	R231G	probably damaging	Het
Olfr77	A	T	9: 19,920,809	Y200F	probably damaging	Het
Pcdhga10	C	T	18: 37,749,021	P612S	probably damaging	Het
Picalm	A	G	7: 90,191,704	N456S	probably damaging	Het
Pigo	A	G	4: 43,025,084	F5S	probably benign	Het
Pikfyve	T	C	1: 65,230,845	F563S	probably damaging	Het
Plod2	A	G	9: 92,542,545	E29G	probably benign	Het
Pm20d2	A	G	4: 33,174,414	V403A	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rb1cc1	T	A	1: 6,250,113	V1252D	probably benign	Het
Rmdn3	A	T	2: 119,156,422	H41Q	possibly damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Ror1	A	G	4: 100,442,160	Y910C	possibly damaging	Het
Scn2a	C	T	2: 65,682,031	L171F	probably benign	Het
Sh3pxd2b	A	G	11: 32,411,505	E239G	probably damaging	Het
Snx27	G	T	3: 94,520,235	T311K	probably benign	Het
Sspo	T	A	6: 48,492,490	L4459Q	probably damaging	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thap12	G	T	7: 98,716,663	K679N	probably damaging	Het
Vmn2r65	T	A	7: 84,946,651	H275L	probably benign	Het
Wfs1	C	A	5: 36,968,624	V308L	probably benign	Het
Zfp229	C	A	17: 21,745,862	H358N	probably damaging	Het
Zfp687	T	C	3: 95,007,914	D1092G	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
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'- TCTACAGATCGAAGCATTGAGG -3'
(R):5'- ATTCTCCTCTGACAGCCTGG -3'

Sequencing Primer
(F):5'- CATTGAGGCGGGAGTGC -3'
(R):5'- ACAGCCTGGCGCCTTTG -3'

Posted On

2015-04-06