Mutagenetix > Incidental Mutations

Incidental Mutation 'R8982:Rimbp3'

683799

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: 0.114) question?

Stock #

R8982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17209647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 312 (T312A)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000169803
AA Change: T312A

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: T312A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,699,768	N493S	probably benign	Het
Actg2	T	C	6: 83,520,715	D185G	probably benign	Het
Alpk3	A	G	7: 81,099,002	N1439S	probably damaging	Het
Arid1b	T	A	17: 5,243,041	S745T	probably damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,494,248		probably benign	Het
BC030867	G	A	11: 102,255,284	A129T	probably benign	Het
C4b	A	G	17: 34,734,364		probably null	Het
Cenpc1	A	G	5: 86,047,674	S79P	probably damaging	Het
Cep295nl	A	T	11: 118,333,845	W58R	probably damaging	Het
Ces2f	T	A	8: 104,953,035	C387S	probably benign	Het
Cfap74	G	A	4: 155,436,730	E620K		Het
Ckap5	T	C	2: 91,607,578	V1668A	possibly damaging	Het
Clock	A	G	5: 76,216,712	V852A	unknown	Het
Col22a1	A	G	15: 71,973,638		probably null	Het
Copb2	T	C	9: 98,574,111	S233P	probably damaging	Het
Dnah3	T	C	7: 119,937,071	Y684C	probably damaging	Het
Dnah7a	T	C	1: 53,531,142	E1835G	probably benign	Het
F830045P16Rik	T	A	2: 129,472,892	Q155L	probably damaging	Het
Fhad1	T	C	4: 142,002,584	D36G	probably damaging	Het
Gm13089	T	G	4: 143,698,316	I186L	probably benign	Het
Hectd4	T	C	5: 121,328,242	V2412A	probably benign	Het
Hoxa13	T	A	6: 52,258,936	K210*	probably null	Het
Hoxc5	T	C	15: 103,015,308	Y179H	probably damaging	Het
Htr1d	A	T	4: 136,443,555	Q365L	possibly damaging	Het
Krt72	C	T	15: 101,781,624	V253M	possibly damaging	Het
Mecom	G	A	3: 29,963,106	T470I	probably damaging	Het
Nefh	G	A	11: 4,947,549	A129V	probably damaging	Het
Nlrp2	T	A	7: 5,324,979	I692F	probably damaging	Het
Nr6a1	T	A	2: 38,872,601	I61L	probably benign	Het
Olfr418	G	A	1: 173,270,739	C188Y	probably damaging	Het
Olfr433	T	G	1: 174,042,622	V224G	probably damaging	Het
Olfr73	A	T	2: 88,034,269	I290K	probably damaging	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pkhd1l1	T	A	15: 44,523,673	L1314*	probably null	Het
Pogz	G	A	3: 94,879,568	V1156M	probably damaging	Het
Prrc2b	T	A	2: 32,212,122	C736S	probably damaging	Het
Psg18	T	A	7: 18,349,375	H285L	probably benign	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Ptprk	A	T	10: 28,560,142	D833V	probably damaging	Het
Rfx6	G	A	10: 51,723,819	V554M	probably benign	Het
Slfn5	G	A	11: 82,960,140	W421*	probably null	Het
Srcin1	A	G	11: 97,535,798	I291T	probably damaging	Het
Sult3a2	T	C	10: 33,782,073	N15D	probably damaging	Het
Tmem179	A	T	12: 112,501,867	L193Q	probably damaging	Het
Tmem200b	T	A	4: 131,922,357	L196Q	probably damaging	Het
Trim71	T	C	9: 114,513,736	T493A	possibly damaging	Het
Trp53bp2	T	A	1: 182,435,436		probably null	Het
Zbtb7c	G	A	18: 76,146,273	G601S	probably damaging	Het
Zdhhc3	A	G	9: 123,100,513	L19P	probably benign	Het
Zfp385b	G	T	2: 77,411,956	T473K	probably damaging	Het
Zfp651	A	G	9: 121,763,268	E218G	probably benign	Het
Zfp804a	A	G	2: 82,235,828	K48E	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
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
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'- TCGAAAGCCTGAACACTGG -3'
(R):5'- CGCAGATGCAAGTTTTCTTCGC -3'

Sequencing Primer
(F):5'- ACTGGCGTCCGGGTTCATTC -3'
(R):5'- TCTTCGCGCAGGTCACAAC -3'

Posted On

2021-10-11