Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00786:Rimbp3'

13823

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

Is this an essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL00786

Quality Score

Status

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17211688 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 992 (T992M)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169803
AA Change: T992M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: T992M

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,375,839	N242S	probably benign	Het
Akap9	C	A	5: 4,070,522	A3646E	probably damaging	Het
Akt1	C	A	12: 112,657,671	G233V	probably damaging	Het
B3gat3	A	G	19: 8,926,785	E320G	probably benign	Het
Bpifa5	G	A	2: 154,167,252	C238Y	probably damaging	Het
Camkmt	T	C	17: 85,096,491	V47A	probably damaging	Het
Ccnl2	C	T	4: 155,820,880	R284W	probably damaging	Het
Chl1	G	T	6: 103,675,145	V341F	probably damaging	Het
Cst3	A	T	2: 148,872,877	C93*	probably null	Het
Ctsh	T	C	9: 90,064,238	V119A	probably damaging	Het
Dmap1	C	T	4: 117,676,396	R225Q	possibly damaging	Het
Ehbp1	A	G	11: 22,100,460	S479P	possibly damaging	Het
Eml2	A	G	7: 19,202,582	Y528C	probably damaging	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
G6pc3	A	G	11: 102,193,105	M186V	probably benign	Het
Gpr37	A	G	6: 25,669,318	V509A	possibly damaging	Het
Heatr5b	G	T	17: 78,824,634	H347N	possibly damaging	Het
Idh1	A	G	1: 65,166,243	S188P	probably damaging	Het
Mphosph8	T	C	14: 56,672,544	V118A	probably benign	Het
Mthfsd	C	T	8: 121,104,468	R91Q	probably damaging	Het
Otor	G	A	2: 143,079,926	V86I	probably damaging	Het
Pdk2	T	A	11: 95,031,935	T140S	probably benign	Het
Pnliprp2	A	G	19: 58,760,497	N78S	probably benign	Het
Sdad1	A	T	5: 92,303,773		probably null	Het
Sidt2	A	G	9: 45,949,803	S71P	possibly damaging	Het
Slc44a2	T	A	9: 21,345,935	V390E	probably damaging	Het
Tmem168	T	C	6: 13,602,675	I231V	probably benign	Het
Uhrf1bp1	T	A	17: 27,879,292	I136N	probably damaging	Het
Vim	T	C	2: 13,578,510		probably null	Het

Other mutations in Rimbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rimbp3	APN	16	17209743	missense	probably benign	0.01
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
R8272:Rimbp3	UTSW	16	17209105	missense	possibly damaging	0.85
R8419:Rimbp3	UTSW	16	17213022	missense	probably damaging	0.97
Z1176:Rimbp3	UTSW	16	17209474	missense	possibly damaging	0.94

Posted On

2012-12-06