Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Rimbp3'

232850

Institutional Source

Beutler Lab

Gene Symbol

Rimbp3

Ensembl Gene

ENSMUSG00000071636

Gene Name

RIMS binding protein 3

Synonyms

RIM-BP3, LOC239731, LOC385766

MMRRC Submission

040117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17208603-17213982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17209675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 321 (L321P)

Ref Sequence

ENSEMBL: ENSMUSP00000127909 (fasta)

Gene Model

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

AlphaFold

Q3V0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000169803
AA Change: L321P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: L321P

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,772 (GRCm38)	V549A	probably benign	Het
Abcd4	C	A	12: 84,609,016 (GRCm38)	G295*	probably null	Het
Acad9	T	C	3: 36,074,376 (GRCm38)	Y129H	probably damaging	Het
Actn4	C	T	7: 28,898,124 (GRCm38)	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,481,115 (GRCm38)	N300K	probably damaging	Het
Adh5	A	G	3: 138,451,484 (GRCm38)	I269V	probably benign	Het
Afap1l2	G	A	19: 56,913,389 (GRCm38)	A842V	possibly damaging	Het
AI429214	A	T	8: 36,994,000 (GRCm38)	K101*	probably null	Het
Alg10b	T	A	15: 90,225,657 (GRCm38)	W58R	probably damaging	Het
Alpk2	C	T	18: 65,305,683 (GRCm38)	E1347K	probably benign	Het
Amotl2	G	T	9: 102,724,723 (GRCm38)	E389*	probably null	Het
Ap5m1	G	A	14: 49,086,248 (GRCm38)	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,229,214 (GRCm38)	S48R	probably damaging	Het
Asb1	T	C	1: 91,544,228 (GRCm38)	L34P	probably damaging	Het
Atg14	C	T	14: 47,551,324 (GRCm38)	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,441,284 (GRCm38)	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,755,616 (GRCm38)	Q1217*	probably null	Het
Bsn	A	T	9: 108,114,886 (GRCm38)	H1222Q	probably benign	Het
Catsper4	A	T	4: 134,218,241 (GRCm38)	V169E	probably damaging	Het
Cbx4	C	T	11: 119,081,892 (GRCm38)	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,032 (GRCm38)	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,838,470 (GRCm38)	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,679,102 (GRCm38)	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,068,155 (GRCm38)	V272A	probably benign	Het
Cgn	A	T	3: 94,779,806 (GRCm38)	V62D	probably damaging	Het
Ckap4	T	G	10: 84,533,523 (GRCm38)	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,169,824 (GRCm38)		probably null	Het
Clmn	A	T	12: 104,780,808 (GRCm38)	S827T	probably benign	Het
Cntn4	T	C	6: 106,489,697 (GRCm38)	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,188,365 (GRCm38)	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,274,415 (GRCm38)	Q329R	probably benign	Het
Col1a1	T	A	11: 94,948,362 (GRCm38)	S979T	unknown	Het
Crat	T	A	2: 30,402,642 (GRCm38)	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,330,264 (GRCm38)	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,617,616 (GRCm38)	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,703,280 (GRCm38)		probably null	Het
Dicer1	A	T	12: 104,713,214 (GRCm38)	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,766,141 (GRCm38)	I1001V	probably damaging	Het
Dnase2a	T	A	8: 84,910,871 (GRCm38)	C301S	probably damaging	Het
Dock10	T	A	1: 80,606,563 (GRCm38)	D142V	probably damaging	Het
Dpp8	G	A	9: 65,063,868 (GRCm38)	C590Y	probably benign	Het
Dst	T	A	1: 34,275,236 (GRCm38)	M6707K	probably damaging	Het
Duox1	T	C	2: 122,337,254 (GRCm38)	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,629,986 (GRCm38)	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,804,003 (GRCm38)	D1011E	probably damaging	Het
Epc2	T	A	2: 49,532,223 (GRCm38)	D376E	probably benign	Het
Eps8	C	A	6: 137,537,635 (GRCm38)		probably null	Het
F11	T	C	8: 45,246,832 (GRCm38)	T406A	probably benign	Het
Fat3	T	G	9: 15,999,786 (GRCm38)	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,959,105 (GRCm38)	R47S	probably benign	Het
Fbxo28	A	T	1: 182,329,925 (GRCm38)	V109E	probably damaging	Het
Fn1	A	T	1: 71,626,164 (GRCm38)	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,643,036 (GRCm38)	D9G	probably damaging	Het
Frem2	G	A	3: 53,652,922 (GRCm38)	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,781,178 (GRCm38)	T185N	probably damaging	Het
Glo1	A	T	17: 30,604,040 (GRCm38)	Y49*	probably null	Het
Gtsf2	T	C	15: 103,439,673 (GRCm38)	M137V	probably benign	Het
Gzmk	C	T	13: 113,173,955 (GRCm38)	G110S	probably benign	Het
Hdac9	G	T	12: 34,389,332 (GRCm38)	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,733,269 (GRCm38)	T456I	possibly damaging	Het
Ino80	T	A	2: 119,454,084 (GRCm38)	H172L	probably damaging	Het
Itgb8	A	C	12: 119,190,612 (GRCm38)	L230R	probably damaging	Het
Klf9	C	T	19: 23,164,688 (GRCm38)	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,583,387 (GRCm38)	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,135,658 (GRCm38)	F67L	unknown	Het
Maml3	T	A	3: 51,690,656 (GRCm38)	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,615,847 (GRCm38)		probably null	Het
Mettl3	A	G	14: 52,294,984 (GRCm38)	*104Q	probably null	Het
Msrb3	T	A	10: 120,852,080 (GRCm38)	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,220,076 (GRCm38)	T1562A	probably damaging	Het
Nat14	T	C	7: 4,924,039 (GRCm38)	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,625,406 (GRCm38)	T2685A	probably damaging	Het
Nek1	A	G	8: 61,016,293 (GRCm38)	D128G	probably damaging	Het
Nfam1	T	A	15: 83,015,001 (GRCm38)	K155*	probably null	Het
Noc4l	A	T	5: 110,650,559 (GRCm38)	M255K	possibly damaging	Het
Nolc1	CAG	CAGGAG	19: 46,081,359 (GRCm38)		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,081,361 (GRCm38)		probably benign	Het
Nprl2	T	C	9: 107,545,312 (GRCm38)	S334P	probably benign	Het
Nsrp1	A	G	11: 77,046,570 (GRCm38)	S267P	probably benign	Het
Ntn4	A	T	10: 93,644,839 (GRCm38)	M142L	probably damaging	Het
Nup188	T	A	2: 30,304,101 (GRCm38)	C139*	probably null	Het
Nup210l	A	T	3: 90,190,974 (GRCm38)	N1411I	possibly damaging	Het
Olfr1510	A	G	14: 52,410,296 (GRCm38)	L192P	probably damaging	Het
Olfr994	T	G	2: 85,430,086 (GRCm38)	T248P	probably damaging	Het
Pard3	A	T	8: 127,388,537 (GRCm38)	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,671,556 (GRCm38)	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,115,071 (GRCm38)	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,818,984 (GRCm38)	D917V	probably damaging	Het
Plekhg4	T	A	8: 105,379,434 (GRCm38)	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 101,077,309 (GRCm38)	R189H	probably benign	Het
Ptpn18	T	A	1: 34,471,661 (GRCm38)	S235R	probably damaging	Het
Rabep2	A	G	7: 126,445,288 (GRCm38)		probably null	Het
Rbp3	T	G	14: 33,956,057 (GRCm38)	I654S	probably benign	Het
Rims2	T	A	15: 39,511,326 (GRCm38)	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,483,021 (GRCm38)	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,424,103 (GRCm38)		probably null	Het
Scn7a	C	T	2: 66,675,968 (GRCm38)	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,337,811 (GRCm38)	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,013,105 (GRCm38)	M1185K	probably damaging	Het
Slain1	C	A	14: 103,650,846 (GRCm38)	D67E	possibly damaging	Het
Snx33	T	C	9: 56,926,440 (GRCm38)	D115G	probably benign	Het
Sowaha	G	A	11: 53,478,962 (GRCm38)	R316C	probably damaging	Het
Spata17	A	T	1: 187,097,911 (GRCm38)	F309I	possibly damaging	Het
Spata48	G	A	11: 11,490,293 (GRCm38)		probably null	Het
Ssrp1	G	T	2: 85,043,006 (GRCm38)		probably null	Het
St6gal1	C	G	16: 23,328,417 (GRCm38)	T225S	probably damaging	Het
Sulf1	C	G	1: 12,848,174 (GRCm38)	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,153,086 (GRCm38)	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,797,044 (GRCm38)	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,993,322 (GRCm38)	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,872 (GRCm38)	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,657,936 (GRCm38)	I222N	probably damaging	Het
Trrap	T	A	5: 144,844,211 (GRCm38)	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,712,610 (GRCm38)	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,235,536 (GRCm38)	T100S	probably damaging	Het
Uxs1	A	G	1: 43,771,773 (GRCm38)	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,187,630 (GRCm38)	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932 (GRCm38)		probably null	Het
Vmn2r7	A	G	3: 64,691,604 (GRCm38)	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,194 (GRCm38)	L621P	probably damaging	Het
Vps45	A	T	3: 96,047,053 (GRCm38)	M174K	probably benign	Het
Wdr72	A	T	9: 74,145,172 (GRCm38)	M162L	probably benign	Het
Wdr81	T	A	11: 75,453,635 (GRCm38)	M269L	probably benign	Het
Zfp53	A	G	17: 21,508,451 (GRCm38)	T249A	probably benign	Het
Zfp758	T	C	17: 22,361,645 (GRCm38)	S22P	probably benign	Het
Zfp780b	T	C	7: 27,963,873 (GRCm38)	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,518,693 (GRCm38)	Y45N	probably damaging	Het

Other mutations in Rimbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rimbp3	APN	16	17,209,743 (GRCm38)	missense	probably benign	0.01
IGL00786:Rimbp3	APN	16	17,211,688 (GRCm38)	missense	probably damaging	0.99
IGL01411:Rimbp3	APN	16	17,211,094 (GRCm38)	missense	probably damaging	1.00
IGL01434:Rimbp3	APN	16	17,211,702 (GRCm38)	missense	probably benign	0.13
IGL01895:Rimbp3	APN	16	17,211,436 (GRCm38)	missense	probably damaging	0.99
IGL02322:Rimbp3	APN	16	17,211,615 (GRCm38)	missense	probably benign	0.00
IGL02649:Rimbp3	APN	16	17,209,608 (GRCm38)	nonsense	probably null
IGL03285:Rimbp3	APN	16	17,213,232 (GRCm38)	missense	probably benign	0.16
PIT4581001:Rimbp3	UTSW	16	17,210,716 (GRCm38)	missense	possibly damaging	0.76
R0279:Rimbp3	UTSW	16	17,209,453 (GRCm38)	missense	probably benign	0.00
R0465:Rimbp3	UTSW	16	17,211,780 (GRCm38)	missense	possibly damaging	0.86
R0605:Rimbp3	UTSW	16	17,211,699 (GRCm38)	missense	probably damaging	0.99
R0674:Rimbp3	UTSW	16	17,212,737 (GRCm38)	missense	probably benign	0.02
R1676:Rimbp3	UTSW	16	17,211,113 (GRCm38)	missense	probably benign	0.13
R1780:Rimbp3	UTSW	16	17,212,632 (GRCm38)	missense	probably benign
R1946:Rimbp3	UTSW	16	17,210,427 (GRCm38)	missense	probably benign	0.10
R3847:Rimbp3	UTSW	16	17,210,299 (GRCm38)	missense	probably benign	0.13
R3849:Rimbp3	UTSW	16	17,210,299 (GRCm38)	missense	probably benign	0.13
R3850:Rimbp3	UTSW	16	17,210,299 (GRCm38)	missense	probably benign	0.13
R4355:Rimbp3	UTSW	16	17,209,692 (GRCm38)	missense	possibly damaging	0.56
R4646:Rimbp3	UTSW	16	17,213,098 (GRCm38)	missense	probably damaging	0.99
R4669:Rimbp3	UTSW	16	17,209,189 (GRCm38)	missense	possibly damaging	0.88
R4732:Rimbp3	UTSW	16	17,210,601 (GRCm38)	missense	possibly damaging	0.94
R4733:Rimbp3	UTSW	16	17,210,601 (GRCm38)	missense	possibly damaging	0.94
R5025:Rimbp3	UTSW	16	17,209,807 (GRCm38)	missense	probably damaging	0.99
R5039:Rimbp3	UTSW	16	17,213,331 (GRCm38)	missense	probably damaging	0.99
R5177:Rimbp3	UTSW	16	17,209,917 (GRCm38)	missense	possibly damaging	0.85
R5311:Rimbp3	UTSW	16	17,210,844 (GRCm38)	missense	probably benign	0.00
R5942:Rimbp3	UTSW	16	17,211,888 (GRCm38)	missense	probably benign	0.00
R6063:Rimbp3	UTSW	16	17,210,917 (GRCm38)	missense	probably damaging	1.00
R6092:Rimbp3	UTSW	16	17,212,270 (GRCm38)	missense	probably damaging	1.00
R6126:Rimbp3	UTSW	16	17,212,276 (GRCm38)	missense	probably benign	0.25
R6288:Rimbp3	UTSW	16	17,212,908 (GRCm38)	missense	probably benign	0.22
R6446:Rimbp3	UTSW	16	17,212,929 (GRCm38)	missense	probably benign	0.00
R6773:Rimbp3	UTSW	16	17,209,015 (GRCm38)	missense	probably damaging	1.00
R7017:Rimbp3	UTSW	16	17,209,746 (GRCm38)	missense	probably benign	0.04
R7043:Rimbp3	UTSW	16	17,211,108 (GRCm38)	missense	probably damaging	1.00
R7048:Rimbp3	UTSW	16	17,210,326 (GRCm38)	missense	probably benign	0.20
R7378:Rimbp3	UTSW	16	17,211,204 (GRCm38)	missense	probably benign
R7440:Rimbp3	UTSW	16	17,213,201 (GRCm38)	missense	possibly damaging	0.78
R7788:Rimbp3	UTSW	16	17,212,704 (GRCm38)	missense	probably benign	0.00
R7879:Rimbp3	UTSW	16	17,211,046 (GRCm38)	missense	possibly damaging	0.71
R8071:Rimbp3	UTSW	16	17,210,863 (GRCm38)	missense	probably benign
R8272:Rimbp3	UTSW	16	17,209,105 (GRCm38)	missense	possibly damaging	0.85
R8419:Rimbp3	UTSW	16	17,213,022 (GRCm38)	missense	probably damaging	0.97
R8819:Rimbp3	UTSW	16	17,210,907 (GRCm38)	missense	probably benign	0.17
R8830:Rimbp3	UTSW	16	17,209,006 (GRCm38)	missense	probably damaging	0.98
R8936:Rimbp3	UTSW	16	17,213,020 (GRCm38)	missense	probably benign
R8982:Rimbp3	UTSW	16	17,209,647 (GRCm38)	missense	probably benign	0.11
R9365:Rimbp3	UTSW	16	17,208,756 (GRCm38)	missense	possibly damaging	0.93
R9799:Rimbp3	UTSW	16	17,209,777 (GRCm38)	missense	possibly damaging	0.88
Z1176:Rimbp3	UTSW	16	17,209,474 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCTCGAAAGCCTGAACACTG -3'
(R):5'- CAGATGCAAGTTTTCTTCGCG -3'

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

Posted On

2014-09-18