Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Rimbp3'

277453

Institutional Source

Beutler Lab

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

LOC239731, LOC385766, RIM-BP3

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17026467-17031846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17028163 bp (GRCm39)

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: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,190 (GRCm39)		probably null	Het
Abcc12	C	T	8: 87,280,020 (GRCm39)	E338K	probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Ankrd16	G	A	2: 11,794,619 (GRCm39)	E335K	probably benign	Het
Atm	A	G	9: 53,414,375 (GRCm39)	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,331,077 (GRCm39)	R281H	probably damaging	Het
Blvra	C	T	2: 126,937,111 (GRCm39)	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,009,961 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cacng8	T	C	7: 3,442,990 (GRCm39)	S84P	probably damaging	Het
Cad	T	A	5: 31,218,994 (GRCm39)	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641 (GRCm39)	S11P	probably benign	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Corin	T	C	5: 72,579,508 (GRCm39)	E155G	probably benign	Het
Cul9	T	C	17: 46,836,061 (GRCm39)	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,776,718 (GRCm39)	E501G	probably damaging	Het
Dennd3	T	A	15: 73,414,581 (GRCm39)	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,540,815 (GRCm39)	I2520L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fgf14	A	C	14: 124,217,801 (GRCm39)	I234R	probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gad2	T	G	2: 22,575,000 (GRCm39)	D472E	probably benign	Het
Garnl3	G	T	2: 32,882,240 (GRCm39)	H832N	probably benign	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Gnptab	T	A	10: 88,269,439 (GRCm39)	L714*	probably null	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Guf1	A	G	5: 69,718,500 (GRCm39)	N213S	probably damaging	Het
H2-K2	T	G	17: 34,216,303 (GRCm39)	H281P	probably damaging	Het
Hhip	T	A	8: 80,724,124 (GRCm39)	M373L	probably benign	Het
Ifi203	C	T	1: 173,761,362 (GRCm39)	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,321,418 (GRCm39)	L88S	probably damaging	Het
Kcna3	T	C	3: 106,944,012 (GRCm39)	Y92H	possibly damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,050,703 (GRCm39)	D387G	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mknk2	C	T	10: 80,503,809 (GRCm39)	W367*	probably null	Het
Mocos	A	G	18: 24,809,719 (GRCm39)	K441E	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Neurod4	C	T	10: 130,106,351 (GRCm39)	V308I	probably benign	Het
Nxf3	C	T	X: 134,974,732 (GRCm39)	V474I	probably benign	Het
Or10d5j	A	T	9: 39,867,877 (GRCm39)	M118K	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pde5a	T	C	3: 122,596,809 (GRCm39)	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,374,557 (GRCm39)	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rnf103	C	G	6: 71,485,859 (GRCm39)	C163W	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Septin11	G	T	5: 93,310,026 (GRCm39)	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,544,192 (GRCm39)	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,302,887 (GRCm39)	V570A	probably damaging	Het
Spout1	T	C	2: 30,067,419 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thsd1	A	G	8: 22,749,427 (GRCm39)	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,073,023 (GRCm39)	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Wnk1	C	T	6: 119,946,315 (GRCm39)	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp335	C	A	2: 164,742,026 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,158,956 (GRCm39)		probably benign	Het

Other mutations in Rimbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rimbp3	APN	16	17,027,607 (GRCm39)	missense	probably benign	0.01
IGL00786:Rimbp3	APN	16	17,029,552 (GRCm39)	missense	probably damaging	0.99
IGL01411:Rimbp3	APN	16	17,028,958 (GRCm39)	missense	probably damaging	1.00
IGL01434:Rimbp3	APN	16	17,029,566 (GRCm39)	missense	probably benign	0.13
IGL01895:Rimbp3	APN	16	17,029,300 (GRCm39)	missense	probably damaging	0.99
IGL02322:Rimbp3	APN	16	17,029,479 (GRCm39)	missense	probably benign	0.00
IGL02649:Rimbp3	APN	16	17,027,472 (GRCm39)	nonsense	probably null
IGL03285:Rimbp3	APN	16	17,031,096 (GRCm39)	missense	probably benign	0.16
PIT4581001:Rimbp3	UTSW	16	17,028,580 (GRCm39)	missense	possibly damaging	0.76
R0279:Rimbp3	UTSW	16	17,027,317 (GRCm39)	missense	probably benign	0.00
R0465:Rimbp3	UTSW	16	17,029,644 (GRCm39)	missense	possibly damaging	0.86
R0605:Rimbp3	UTSW	16	17,029,563 (GRCm39)	missense	probably damaging	0.99
R0674:Rimbp3	UTSW	16	17,030,601 (GRCm39)	missense	probably benign	0.02
R1676:Rimbp3	UTSW	16	17,028,977 (GRCm39)	missense	probably benign	0.13
R1780:Rimbp3	UTSW	16	17,030,496 (GRCm39)	missense	probably benign
R1946:Rimbp3	UTSW	16	17,028,291 (GRCm39)	missense	probably benign	0.10
R2113:Rimbp3	UTSW	16	17,027,539 (GRCm39)	missense	probably benign	0.00
R3849:Rimbp3	UTSW	16	17,028,163 (GRCm39)	missense	probably benign	0.13
R3850:Rimbp3	UTSW	16	17,028,163 (GRCm39)	missense	probably benign	0.13
R4355:Rimbp3	UTSW	16	17,027,556 (GRCm39)	missense	possibly damaging	0.56
R4646:Rimbp3	UTSW	16	17,030,962 (GRCm39)	missense	probably damaging	0.99
R4669:Rimbp3	UTSW	16	17,027,053 (GRCm39)	missense	possibly damaging	0.88
R4732:Rimbp3	UTSW	16	17,028,465 (GRCm39)	missense	possibly damaging	0.94
R4733:Rimbp3	UTSW	16	17,028,465 (GRCm39)	missense	possibly damaging	0.94
R5025:Rimbp3	UTSW	16	17,027,671 (GRCm39)	missense	probably damaging	0.99
R5039:Rimbp3	UTSW	16	17,031,195 (GRCm39)	missense	probably damaging	0.99
R5177:Rimbp3	UTSW	16	17,027,781 (GRCm39)	missense	possibly damaging	0.85
R5311:Rimbp3	UTSW	16	17,028,708 (GRCm39)	missense	probably benign	0.00
R5942:Rimbp3	UTSW	16	17,029,752 (GRCm39)	missense	probably benign	0.00
R6063:Rimbp3	UTSW	16	17,028,781 (GRCm39)	missense	probably damaging	1.00
R6092:Rimbp3	UTSW	16	17,030,134 (GRCm39)	missense	probably damaging	1.00
R6126:Rimbp3	UTSW	16	17,030,140 (GRCm39)	missense	probably benign	0.25
R6288:Rimbp3	UTSW	16	17,030,772 (GRCm39)	missense	probably benign	0.22
R6446:Rimbp3	UTSW	16	17,030,793 (GRCm39)	missense	probably benign	0.00
R6773:Rimbp3	UTSW	16	17,026,879 (GRCm39)	missense	probably damaging	1.00
R7017:Rimbp3	UTSW	16	17,027,610 (GRCm39)	missense	probably benign	0.04
R7043:Rimbp3	UTSW	16	17,028,972 (GRCm39)	missense	probably damaging	1.00
R7048:Rimbp3	UTSW	16	17,028,190 (GRCm39)	missense	probably benign	0.20
R7378:Rimbp3	UTSW	16	17,029,068 (GRCm39)	missense	probably benign
R7440:Rimbp3	UTSW	16	17,031,065 (GRCm39)	missense	possibly damaging	0.78
R7788:Rimbp3	UTSW	16	17,030,568 (GRCm39)	missense	probably benign	0.00
R7879:Rimbp3	UTSW	16	17,028,910 (GRCm39)	missense	possibly damaging	0.71
R8071:Rimbp3	UTSW	16	17,028,727 (GRCm39)	missense	probably benign
R8272:Rimbp3	UTSW	16	17,026,969 (GRCm39)	missense	possibly damaging	0.85
R8419:Rimbp3	UTSW	16	17,030,886 (GRCm39)	missense	probably damaging	0.97
R8819:Rimbp3	UTSW	16	17,028,771 (GRCm39)	missense	probably benign	0.17
R8830:Rimbp3	UTSW	16	17,026,870 (GRCm39)	missense	probably damaging	0.98
R8936:Rimbp3	UTSW	16	17,030,884 (GRCm39)	missense	probably benign
R8982:Rimbp3	UTSW	16	17,027,511 (GRCm39)	missense	probably benign	0.11
R9365:Rimbp3	UTSW	16	17,026,620 (GRCm39)	missense	possibly damaging	0.93
R9799:Rimbp3	UTSW	16	17,027,641 (GRCm39)	missense	possibly damaging	0.88
Z1176:Rimbp3	UTSW	16	17,027,338 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGATCGAAGCATTGAGGCG -3'
(R):5'- ATTCTCCTCTGACAGCCTGG -3'

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

Posted On

2015-04-06