Incidental Mutation 'IGL01411:Rimbp3'
ID 80028
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 # IGL01411
Quality Score
Status
Chromosome 16
Chromosomal Location 17208603-17213982 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17211094 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 794 (D794G)
Ref Sequence ENSEMBL: ENSMUSP00000127909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169803]
AlphaFold Q3V0F0
Predicted Effect probably damaging
Transcript: ENSMUST00000169803
AA Change: D794G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: D794G

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,911,229 E36K possibly damaging Het
Alox8 A T 11: 69,188,690 S257R probably benign Het
Apc2 T C 10: 80,315,078 S1960P probably damaging Het
Arhgap35 T C 7: 16,564,267 N291S probably benign Het
AW551984 A T 9: 39,593,791 D468E possibly damaging Het
B3gnt6 A C 7: 98,194,523 F77V probably damaging Het
C1qtnf7 A T 5: 43,609,061 M1L probably benign Het
Calm3 T C 7: 16,917,484 T63A probably benign Het
Ccdc33 G A 9: 58,117,636 probably benign Het
Cdh4 C T 2: 179,780,403 R107C probably damaging Het
Cdr2l A G 11: 115,382,366 E15G probably damaging Het
Chil6 A G 3: 106,388,825 W365R probably damaging Het
Ckap5 G T 2: 91,601,011 R1525L probably benign Het
Col6a6 T A 9: 105,785,958 K127* probably null Het
Dclre1b A G 3: 103,803,323 V298A probably damaging Het
Fat1 T A 8: 45,026,800 V2961E probably damaging Het
Fhit T C 14: 9,573,483 D126G probably benign Het
Gpc1 T C 1: 92,857,014 F303S probably damaging Het
Hsd17b4 T A 18: 50,191,814 V698D probably damaging Het
Itpr2 C T 6: 146,376,062 probably null Het
Klhl4 A T X: 114,522,394 D168V probably damaging Het
Krt42 A G 11: 100,263,341 L405P possibly damaging Het
Lrp1 A T 10: 127,581,765 C85* probably null Het
Lrp2 A G 2: 69,482,267 L2559P probably damaging Het
Maob T G X: 16,712,569 R448S possibly damaging Het
Mast3 A G 8: 70,779,583 V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,970,727 V286M probably damaging Het
Mlip A G 9: 77,239,417 I198T possibly damaging Het
Mocs3 T C 2: 168,231,377 V248A probably damaging Het
Nxf2 T A X: 134,952,112 R367S probably benign Het
Olfr1404 T G 1: 173,216,128 V159G probably benign Het
Olfr617 T C 7: 103,584,117 W32R probably damaging Het
Parva T C 7: 112,577,010 probably benign Het
Pot1a A T 6: 25,750,144 probably benign Het
Ptpra T C 2: 130,544,439 I603T probably damaging Het
Rad9a T C 19: 4,201,337 K33E probably benign Het
Sept5 G A 16: 18,624,930 R90C probably damaging Het
Skint8 T A 4: 111,936,906 N164K probably damaging Het
Slc30a3 T G 5: 31,090,080 I73L probably benign Het
Stab2 A T 10: 86,980,008 probably benign Het
Tnc C T 4: 64,000,722 V1155M probably damaging Het
Ttc13 T G 8: 124,683,285 Q525P probably damaging Het
Ttn T C 2: 76,720,135 E31601G probably damaging Het
Unc5a A T 13: 55,002,928 D577V probably damaging Het
Usp18 G A 6: 121,261,421 V176M probably benign Het
Vmn1r184 T C 7: 26,266,895 V22A probably benign Het
Vmn1r33 T A 6: 66,611,881 I230F probably damaging Het
Vmn1r51 A G 6: 90,129,404 I101V probably benign Het
Vmn2r108 T A 17: 20,471,020 M414L probably benign Het
Vmn2r87 A C 10: 130,472,560 V603G probably benign Het
Wt1 A G 2: 105,132,974 Y16C probably damaging Het
Wwp2 C T 8: 107,506,345 T159I probably benign Het
Xirp2 T C 2: 67,514,083 F2223L probably benign Het
Zan T A 5: 137,388,893 H4966L unknown 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
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
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 2013-11-05