Incidental Mutation 'IGL01895:Rimbp3'
ID 179377
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01895
Quality Score
Status
Chromosome 16
Chromosomal Location 17026467-17031846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17029300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 908 (L908P)
Ref Sequence ENSEMBL: ENSMUSP00000127909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169803]
AlphaFold Q3V0F0
Predicted Effect probably damaging
Transcript: ENSMUST00000169803
AA Change: L908P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: L908P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,678,482 (GRCm39) I56N possibly damaging Het
Akr1c13 A T 13: 4,255,372 (GRCm39) E321V possibly damaging Het
Atp8b3 A T 10: 80,357,662 (GRCm39) V1119D possibly damaging Het
Cacna1e G T 1: 154,319,646 (GRCm39) F1351L probably damaging Het
Cadps2 A G 6: 23,427,274 (GRCm39) W585R probably damaging Het
Ccdc113 C T 8: 96,263,086 (GRCm39) probably benign Het
Ccer1 A T 10: 97,529,912 (GRCm39) I192F unknown Het
Chd8 T C 14: 52,436,551 (GRCm39) N90S probably benign Het
Clca3a1 A T 3: 144,453,333 (GRCm39) C463* probably null Het
Cplane1 T A 15: 8,258,591 (GRCm39) V2279E possibly damaging Het
Cyp2c65 T A 19: 39,060,676 (GRCm39) C179S possibly damaging Het
Dennd4b A G 3: 90,182,874 (GRCm39) Q35R probably benign Het
Enpep T C 3: 129,063,983 (GRCm39) E928G possibly damaging Het
Fem1c T C 18: 46,638,629 (GRCm39) T458A probably benign Het
Fezf2 A T 14: 12,342,498 (GRCm38) *456R probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Iqcm T G 8: 76,615,188 (GRCm39) L423R probably damaging Het
Kcnc4 C A 3: 107,355,534 (GRCm39) V305L probably benign Het
Kif1a G A 1: 92,953,455 (GRCm39) T1337I possibly damaging Het
Lpxn A G 19: 12,810,450 (GRCm39) D298G probably damaging Het
Lypd8 A G 11: 58,281,046 (GRCm39) T203A possibly damaging Het
Mrps28 C T 3: 8,965,119 (GRCm39) V107M probably damaging Het
Myo15b A G 11: 115,774,324 (GRCm39) E586G possibly damaging Het
Pdzk1 C T 3: 96,776,417 (GRCm39) A459V possibly damaging Het
Rbpj A G 5: 53,808,728 (GRCm39) D285G probably damaging Het
Samd4b T C 7: 28,101,334 (GRCm39) probably null Het
Slc28a2b A C 2: 122,355,572 (GRCm39) Y588S possibly damaging Het
Stau2 C T 1: 16,416,161 (GRCm39) G401S probably damaging Het
Trpa1 A T 1: 14,957,867 (GRCm39) I697K possibly damaging Het
Ttc17 A C 2: 94,205,491 (GRCm39) V285G possibly damaging Het
Unc5b A G 10: 60,602,864 (GRCm39) F845S probably damaging Het
Vmn1r19 A T 6: 57,382,245 (GRCm39) Q266L probably benign Het
Vmn2r106 T C 17: 20,499,227 (GRCm39) N228S probably benign Het
Vps13d A G 4: 144,882,836 (GRCm39) F919S possibly damaging Het
Zbtb38 C T 9: 96,570,461 (GRCm39) V208I probably benign Het
Zfp990 A T 4: 145,263,427 (GRCm39) T142S probably damaging Het
Zfp990 C A 4: 145,263,428 (GRCm39) T142N probably damaging 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
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
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
Posted On 2014-05-07