Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01411:Rimbp3'

80028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

RIM-BP3, LOC239731, LOC385766

Accession Numbers

Essential gene?

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

Stock #

IGL01411

Quality Score

Status

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17211094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 794 (D794G)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

probably damaging
Transcript: ENSMUST00000169803
AA Change: D794G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: D794G

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

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
A1cf	G	A	19: 31,911,229	E36K	possibly damaging	Het
Alox8	A	T	11: 69,188,690	S257R	probably benign	Het
Apc2	T	C	10: 80,315,078	S1960P	probably damaging	Het
Arhgap35	T	C	7: 16,564,267	N291S	probably benign	Het
AW551984	A	T	9: 39,593,791	D468E	possibly damaging	Het
B3gnt6	A	C	7: 98,194,523	F77V	probably damaging	Het
C1qtnf7	A	T	5: 43,609,061	M1L	probably benign	Het
Calm3	T	C	7: 16,917,484	T63A	probably benign	Het
Ccdc33	G	A	9: 58,117,636		probably benign	Het
Cdh4	C	T	2: 179,780,403	R107C	probably damaging	Het
Cdr2l	A	G	11: 115,382,366	E15G	probably damaging	Het
Chil6	A	G	3: 106,388,825	W365R	probably damaging	Het
Ckap5	G	T	2: 91,601,011	R1525L	probably benign	Het
Col6a6	T	A	9: 105,785,958	K127*	probably null	Het
Dclre1b	A	G	3: 103,803,323	V298A	probably damaging	Het
Fat1	T	A	8: 45,026,800	V2961E	probably damaging	Het
Fhit	T	C	14: 9,573,483	D126G	probably benign	Het
Gpc1	T	C	1: 92,857,014	F303S	probably damaging	Het
Hsd17b4	T	A	18: 50,191,814	V698D	probably damaging	Het
Itpr2	C	T	6: 146,376,062		probably null	Het
Klhl4	A	T	X: 114,522,394	D168V	probably damaging	Het
Krt42	A	G	11: 100,263,341	L405P	possibly damaging	Het
Lrp1	A	T	10: 127,581,765	C85*	probably null	Het
Lrp2	A	G	2: 69,482,267	L2559P	probably damaging	Het
Maob	T	G	X: 16,712,569	R448S	possibly damaging	Het
Mast3	A	G	8: 70,779,583	V1250A	possibly damaging	Het
Mfsd4b5	C	T	10: 39,970,727	V286M	probably damaging	Het
Mlip	A	G	9: 77,239,417	I198T	possibly damaging	Het
Mocs3	T	C	2: 168,231,377	V248A	probably damaging	Het
Nxf2	T	A	X: 134,952,112	R367S	probably benign	Het
Olfr1404	T	G	1: 173,216,128	V159G	probably benign	Het
Olfr617	T	C	7: 103,584,117	W32R	probably damaging	Het
Parva	T	C	7: 112,577,010		probably benign	Het
Pot1a	A	T	6: 25,750,144		probably benign	Het
Ptpra	T	C	2: 130,544,439	I603T	probably damaging	Het
Rad9a	T	C	19: 4,201,337	K33E	probably benign	Het
Sept5	G	A	16: 18,624,930	R90C	probably damaging	Het
Skint8	T	A	4: 111,936,906	N164K	probably damaging	Het
Slc30a3	T	G	5: 31,090,080	I73L	probably benign	Het
Stab2	A	T	10: 86,980,008		probably benign	Het
Tnc	C	T	4: 64,000,722	V1155M	probably damaging	Het
Ttc13	T	G	8: 124,683,285	Q525P	probably damaging	Het
Ttn	T	C	2: 76,720,135	E31601G	probably damaging	Het
Unc5a	A	T	13: 55,002,928	D577V	probably damaging	Het
Usp18	G	A	6: 121,261,421	V176M	probably benign	Het
Vmn1r184	T	C	7: 26,266,895	V22A	probably benign	Het
Vmn1r33	T	A	6: 66,611,881	I230F	probably damaging	Het
Vmn1r51	A	G	6: 90,129,404	I101V	probably benign	Het
Vmn2r108	T	A	17: 20,471,020	M414L	probably benign	Het
Vmn2r87	A	C	10: 130,472,560	V603G	probably benign	Het
Wt1	A	G	2: 105,132,974	Y16C	probably damaging	Het
Wwp2	C	T	8: 107,506,345	T159I	probably benign	Het
Xirp2	T	C	2: 67,514,083	F2223L	probably benign	Het
Zan	T	A	5: 137,388,893	H4966L	unknown	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
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
R9799:Rimbp3	UTSW	16	17209777	missense	possibly damaging	0.88
Z1176:Rimbp3	UTSW	16	17209474	missense	possibly damaging	0.94

Posted On

2013-11-05