Incidental Mutation 'PIT4581001:Rimbp3'
ID 556532
Institutional Source Beutler Lab
Gene Symbol Rimbp3
Ensembl Gene ENSMUSG00000071636
Gene Name RIMS binding protein 3
Synonyms LOC239731, LOC385766, RIM-BP3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # PIT4581001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17026467-17031846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17028580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 668 (S668N)
Ref Sequence ENSEMBL: ENSMUSP00000127909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169803]
AlphaFold Q3V0F0
Predicted Effect possibly damaging
Transcript: ENSMUST00000169803
AA Change: S668N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: S668N

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
  • 1x: 92.9%
  • 3x: 90.6%
  • 10x: 84.5%
  • 20x: 71.1%
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
Adam15 T C 3: 89,251,139 (GRCm39) H522R probably benign Het
Adcy8 A T 15: 64,626,666 (GRCm39) I724N probably damaging Het
Cdk2ap1rt A G 11: 48,716,971 (GRCm39) I69T possibly damaging Het
Cstdc6 T C 16: 36,143,294 (GRCm39) I52V probably benign Het
Ctsj A T 13: 61,150,370 (GRCm39) C210S probably damaging Het
Cyp2d12 A G 15: 82,442,652 (GRCm39) E365G probably damaging Het
Dbi A T 1: 120,047,642 (GRCm39) V85E probably damaging Het
Dhrs7b A G 11: 60,742,723 (GRCm39) I153M possibly damaging Het
Dock10 C A 1: 80,483,163 (GRCm39) C2096F probably damaging Het
Eid3 T A 10: 82,703,589 (GRCm39) I350K probably damaging Het
Fam83b A T 9: 76,398,434 (GRCm39) F890I probably damaging Het
Fras1 G A 5: 96,703,160 (GRCm39) D308N probably benign Het
Ftsj3 T C 11: 106,140,302 (GRCm39) D822G unknown Het
Gabra5 T C 7: 57,138,605 (GRCm39) T148A probably damaging Het
Gad1 A G 2: 70,430,011 (GRCm39) D526G probably benign Het
Gm21698 T A 5: 26,192,350 (GRCm39) T79S probably benign Het
Gon4l T G 3: 88,802,821 (GRCm39) V1144G probably damaging Het
Ighv1-24 A T 12: 114,736,803 (GRCm39) N32K probably benign Het
Islr T C 9: 58,064,484 (GRCm39) N341S possibly damaging Het
Mybph A G 1: 134,122,479 (GRCm39) T175A probably benign Het
Mycn T C 12: 12,990,244 (GRCm39) K51E possibly damaging Het
Myh14 T C 7: 44,262,906 (GRCm39) N1763D probably benign Het
Myrip T C 9: 120,296,583 (GRCm39) S831P probably damaging Het
Neb G T 2: 52,178,814 (GRCm39) A1314E probably damaging Het
Notch2 T C 3: 98,011,778 (GRCm39) Y599H probably damaging Het
Npr1 C A 3: 90,369,564 (GRCm39) G387V probably damaging Het
Or6e1 T A 14: 54,519,995 (GRCm39) D119V probably damaging Het
Orai2 G A 5: 136,179,364 (GRCm39) T223M probably damaging Het
Pcdhga5 A G 18: 37,829,910 (GRCm39) E786G probably benign Het
Pde6b A G 5: 108,576,374 (GRCm39) T749A probably benign Het
Pdzrn3 A G 6: 101,128,464 (GRCm39) V734A probably benign Het
Pkd1l1 GCC GCCC 11: 8,866,298 (GRCm39) probably null Het
Recql5 C A 11: 115,823,682 (GRCm39) K21N possibly damaging Het
Sdr42e1 A T 8: 118,390,257 (GRCm39) I128N probably damaging Het
Shprh TAAAA T 10: 11,068,238 (GRCm39) probably null Het
Slc15a2 A T 16: 36,592,405 (GRCm39) C251S probably benign Het
Slc17a4 A T 13: 24,086,001 (GRCm39) S329T probably damaging Het
Slc35a1 A G 4: 34,669,501 (GRCm39) V246A possibly damaging Het
Slc37a2 A T 9: 37,148,701 (GRCm39) S260R probably benign Het
Slco6d1 A T 1: 98,351,050 (GRCm39) I177L possibly damaging Het
Tmcc1 A G 6: 116,020,417 (GRCm39) V345A Het
Tmod2 T C 9: 75,504,583 (GRCm39) Y12C probably damaging Het
Top2a A T 11: 98,893,790 (GRCm39) W1035R probably damaging Het
Trpc1 A G 9: 95,618,974 (GRCm39) S126P probably benign Het
Ttn A G 2: 76,564,305 (GRCm39) S28576P probably damaging Het
Vmn1r16 A T 6: 57,299,858 (GRCm39) W255R probably benign Het
Vmn2r5 T A 3: 64,411,348 (GRCm39) K407* probably null Het
Vps13b G T 15: 35,534,409 (GRCm39) W908C probably damaging Het
Ykt6 A G 11: 5,912,747 (GRCm39) K150E possibly damaging Het
Zbtb2 A G 10: 4,319,265 (GRCm39) Y254H possibly damaging Het
Zfp217 A G 2: 169,956,503 (GRCm39) S832P probably benign Het
Zfp595 A G 13: 67,465,949 (GRCm39) S108P probably benign Het
Zfp786 A T 6: 47,796,756 (GRCm39) F727L probably damaging Het
Zzef1 G A 11: 72,790,498 (GRCm39) V2151I probably benign Het
Other mutations in Rimbp3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8272:Rimbp3 UTSW 16 17,026,969 (GRCm39) missense possibly damaging 0.85
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'- CCTGGCCAACTGGATGAAGAAG -3'
(R):5'- TCCTCAACGATAACTGGATTCTCC -3'

Sequencing Primer
(F):5'- CCAACTGGATGAAGAAGATGGC -3'
(R):5'- AACGATAACTGGATTCTCCTGCTGG -3'
Posted On 2019-06-07