Mutagenetix > Incidental Mutation

Incidental Mutation 'R8272:Rimbp3'

637808

Institutional Source

Beutler Lab

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

LOC239731, LOC385766, RIM-BP3

MMRRC Submission

067695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R8272 (G1)

Quality Score

212.009

Status

Not validated

Chromosome

Chromosomal Location

17026467-17031846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17026969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 131 (V131A)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169803
AA Change: V131A

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: V131A

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: 99.6%
20x: 98.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 103,856,499 (GRCm39)	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,859,118 (GRCm39)	E90*	probably null	Het
Abca15	A	G	7: 120,006,665 (GRCm39)	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,969,630 (GRCm39)	A123D	probably damaging	Het
Asmt	A	T	X: 169,106,460 (GRCm39)	D20V	possibly damaging	Het
Bid	T	C	6: 120,877,176 (GRCm39)	E55G	probably damaging	Het
Brd3	A	G	2: 27,351,725 (GRCm39)	V176A	probably benign	Het
Btnl2	G	T	17: 34,575,275 (GRCm39)		probably null	Het
Card11	A	G	5: 140,875,794 (GRCm39)	S562P	probably damaging	Het
Carmil1	T	G	13: 24,220,562 (GRCm39)	H1054P	probably benign	Het
Casp8	T	G	1: 58,872,901 (GRCm39)	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Cfap45	G	A	1: 172,355,406 (GRCm39)	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,092,175 (GRCm39)	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175 (GRCm39)	P333L	possibly damaging	Het
Cspg4b	A	T	13: 113,504,889 (GRCm39)	D1979V		Het
Ctnna3	T	G	10: 64,838,377 (GRCm39)	V818G	probably damaging	Het
Cyp4f18	G	T	8: 72,742,935 (GRCm39)	L456M	probably benign	Het
Ddx50	A	G	10: 62,457,256 (GRCm39)	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dnah11	T	A	12: 118,074,752 (GRCm39)	T1367S	probably benign	Het
Fam98b	T	A	2: 117,093,335 (GRCm39)	C183S	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,388,828 (GRCm39)	S194A	probably benign	Het
Flrt3	G	T	2: 140,502,617 (GRCm39)	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,612,183 (GRCm39)	Y527H	possibly damaging	Het
Gramd1b	T	C	9: 40,215,820 (GRCm39)	T677A	probably benign	Het
Grm8	A	T	6: 27,363,281 (GRCm39)	S745T	probably damaging	Het
Kctd8	T	C	5: 69,267,803 (GRCm39)	K436E	probably benign	Het
Klf5	G	T	14: 99,539,540 (GRCm39)	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,179,566 (GRCm39)	V505M	unknown	Het
Letm2	A	G	8: 26,076,672 (GRCm39)	L310P	probably damaging	Het
Lrrc4	T	C	6: 28,662,192 (GRCm39)	H174R	unknown	Het
Myh11	T	C	16: 14,036,718 (GRCm39)	S995G		Het
Myh7b	A	T	2: 155,474,824 (GRCm39)	E1787D	probably damaging	Het
Myoc	T	C	1: 162,466,995 (GRCm39)	S55P	probably benign	Het
Naaladl2	T	C	3: 24,112,366 (GRCm39)	Q572R	probably damaging	Het
Nanog	T	A	6: 122,688,736 (GRCm39)	S131T	probably benign	Het
Nifk	A	G	1: 118,260,134 (GRCm39)	K230E	probably benign	Het
Nlrp10	A	G	7: 108,525,103 (GRCm39)	S126P	probably benign	Het
Npc1l1	T	A	11: 6,179,327 (GRCm39)	K28*	probably null	Het
Or13m2-ps1	A	G	6: 42,778,038 (GRCm39)	D121G	probably damaging	Het
Or5b102	G	A	19: 13,040,795 (GRCm39)	V7M	possibly damaging	Het
Pcdhac2	T	A	18: 37,279,242 (GRCm39)	C741S	probably benign	Het
Pcx	A	T	19: 4,651,758 (GRCm39)	N45I	probably damaging	Het
Peak1	A	G	9: 56,166,182 (GRCm39)	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,546,218 (GRCm39)	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,654,789 (GRCm39)	A726V	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rrp1b	A	G	17: 32,276,163 (GRCm39)	K570R	probably benign	Het
Serpinb1a	A	T	13: 33,029,720 (GRCm39)	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,070,736 (GRCm39)	L1076S	probably damaging	Het
Sspo	A	T	6: 48,425,453 (GRCm39)	T25S	probably benign	Het
Syvn1	G	A	19: 6,097,971 (GRCm39)	R3H	probably damaging	Het
Tead2	A	G	7: 44,878,166 (GRCm39)	E280G	probably benign	Het
Tmem263	T	A	10: 84,950,431 (GRCm39)	V74E	possibly damaging	Het
Tmem38b	T	A	4: 53,854,332 (GRCm39)	L188Q	probably damaging	Het
Tmod4	C	T	3: 95,033,171 (GRCm39)	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,180,146 (GRCm39)	E62V	probably benign	Het
Trim27	G	A	13: 21,364,780 (GRCm39)	C39Y	probably benign	Het
Vmn2r110	A	G	17: 20,816,490 (GRCm39)	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,702,373 (GRCm39)	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,596,817 (GRCm39)	F79L	probably benign	Het
Vps13a	A	G	19: 16,727,209 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,345,142 (GRCm39)	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,308,927 (GRCm39)	S718A	probably damaging	Het
Zfp78	A	G	7: 6,376,213 (GRCm39)	T41A	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
R3847:Rimbp3	UTSW	16	17,028,163 (GRCm39)	missense	probably benign	0.13
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
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'- TGCGGCCACAATGACAAAG -3'
(R):5'- TAAGGAATAGCTGGCGCTCC -3'

Sequencing Primer
(F):5'- TTTCGCTACCCAGACGCG -3'
(R):5'- AATAGCTGGCGCTCCACGTC -3'

Posted On

2020-07-28