Incidental Mutation 'IGL02322:Rimbp3'
ID 288291
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? Probably non essential (E-score: 0.247) question?
Stock # IGL02322
Quality Score
Status
Chromosome 16
Chromosomal Location 17208603-17213982 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 17211615 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 968 (F968V)
Ref Sequence ENSEMBL: ENSMUSP00000127909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169803]
AlphaFold Q3V0F0
Predicted Effect probably benign
Transcript: ENSMUST00000169803
AA Change: F968V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: F968V

DomainStartEndE-ValueType
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 105,698,636 A355V probably benign Het
Adam9 A G 8: 24,955,974 V801A probably damaging Het
Ankrd36 T A 11: 5,614,619 V479D possibly damaging Het
Arid5a C T 1: 36,319,416 P423L probably benign Het
Atp13a4 T C 16: 29,440,102 I650V probably benign Het
B4gat1 C A 19: 5,039,127 P51T possibly damaging Het
Caskin2 G A 11: 115,804,477 T310M probably damaging Het
Ccdc121 A G 1: 181,510,434 S318P possibly damaging Het
Ccdc159 G T 9: 21,929,373 V79L possibly damaging Het
Ccser2 A T 14: 36,909,129 V18E probably damaging Het
Cct8l1 T C 5: 25,517,583 V432A probably benign Het
Cdh11 A T 8: 102,647,519 F529Y probably benign Het
Cep250 A G 2: 155,990,328 E1370G probably damaging Het
Col22a1 C A 15: 71,822,653 G717C unknown Het
Csmd2 T C 4: 128,463,727 probably benign Het
Ctrb1 A C 8: 111,689,319 probably null Het
Cyp2b19 T C 7: 26,762,378 S208P possibly damaging Het
Dnmt3l T A 10: 78,052,738 I158N possibly damaging Het
Evi5l T C 8: 4,187,236 probably benign Het
Fkbpl A G 17: 34,645,324 E22G probably benign Het
Flnb T A 14: 7,894,676 F825I probably damaging Het
Gjb6 A T 14: 57,124,275 N176K probably damaging Het
Gpc2 G T 5: 138,276,237 probably null Het
H1fnt T C 15: 98,256,876 T131A possibly damaging Het
Il20 C T 1: 130,909,576 C104Y probably damaging Het
Mgat5 A G 1: 127,382,985 N212S probably benign Het
Olfm5 C T 7: 104,154,401 G210D probably damaging Het
Olfr1226 T A 2: 89,193,462 T191S probably damaging Het
Olfr1387 A G 11: 49,459,957 S93G probably benign Het
Olig2 T C 16: 91,226,658 S87P probably benign Het
Osbpl7 G T 11: 97,056,124 A418S probably benign Het
Otog G T 7: 46,301,457 R2551L probably benign Het
Oxt A T 2: 130,576,280 N24I probably damaging Het
Pibf1 A G 14: 99,210,983 Y626C probably damaging Het
Plekhh2 A T 17: 84,589,466 K934* probably null Het
Pramef17 G A 4: 143,992,021 probably benign Het
Prdm9 A T 17: 15,562,848 N57K probably damaging Het
Rapsn A G 2: 91,041,906 D195G possibly damaging Het
Rpgrip1 A G 14: 52,150,042 N1047S possibly damaging Het
Slc35g1 C T 19: 38,400,565 R107* probably null Het
Ssh2 A C 11: 77,416,413 probably null Het
Tiparp C A 3: 65,532,020 C70* probably null Het
Vmn2r110 A G 17: 20,573,935 I824T probably damaging Het
Vmn2r78 T C 7: 86,921,479 S402P probably damaging Het
Vps13c A G 9: 67,937,901 E2089G probably benign Het
Xirp2 A T 2: 67,508,738 H441L probably benign Het
Zdhhc3 C T 9: 123,100,477 G31D probably benign Het
Zfp330 A G 8: 82,770,821 L64S probably damaging Het
Other mutations in Rimbp3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Z1176:Rimbp3 UTSW 16 17209474 missense possibly damaging 0.94
Posted On 2015-04-16