Incidental Mutation 'IGL02902:Rsbn1'
ID 363648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsbn1
Ensembl Gene ENSMUSG00000044098
Gene Name rosbin, round spermatid basic protein 1
Synonyms C230004D03Rik, Rsbp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02902
Quality Score
Status
Chromosome 3
Chromosomal Location 103821436-103873952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103860972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 466 (C466F)
Ref Sequence ENSEMBL: ENSMUSP00000069246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051139] [ENSMUST00000068879]
AlphaFold Q80T69
Predicted Effect possibly damaging
Transcript: ENSMUST00000051139
AA Change: C466F

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: C466F

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 59 76 N/A INTRINSIC
low complexity region 84 109 N/A INTRINSIC
low complexity region 136 151 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
low complexity region 466 477 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000068879
AA Change: C466F

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: C466F

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
low complexity region 49 64 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
low complexity region 131 156 N/A INTRINSIC
low complexity region 183 198 N/A INTRINSIC
low complexity region 252 261 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151927
SMART Domains Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 59 76 N/A INTRINSIC
low complexity region 84 109 N/A INTRINSIC
low complexity region 136 151 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185731
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(9) : Targeted, other(3) Gene trapped(6)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 85,974,087 (GRCm39) V135F possibly damaging Het
Aatk T C 11: 119,902,603 (GRCm39) T541A probably benign Het
Abcc1 T C 16: 14,240,991 (GRCm39) L516P probably damaging Het
Actl6a T A 3: 32,776,791 (GRCm39) V350E possibly damaging Het
Afm A G 5: 90,674,222 (GRCm39) K245E possibly damaging Het
Agr3 T C 12: 35,996,915 (GRCm39) V63A probably damaging Het
Arhgef28 A T 13: 98,083,383 (GRCm39) M1162K probably damaging Het
Casq2 T A 3: 101,994,113 (GRCm39) C53* probably null Het
Ccdc181 T C 1: 164,107,470 (GRCm39) V51A probably benign Het
Cd101 A G 3: 100,926,310 (GRCm39) probably benign Het
Csdc2 T C 15: 81,832,801 (GRCm39) V69A probably benign Het
Cyp2c23 A T 19: 44,009,997 (GRCm39) probably benign Het
Dnph1 A G 17: 46,809,427 (GRCm39) probably benign Het
Egf T C 3: 129,474,796 (GRCm39) T1124A probably benign Het
Gpr45 A G 1: 43,072,371 (GRCm39) E338G possibly damaging Het
Grb14 A C 2: 64,768,762 (GRCm39) L98R probably damaging Het
Gucy1a1 T C 3: 82,026,224 (GRCm39) S77G possibly damaging Het
Helb A G 10: 119,925,390 (GRCm39) S996P probably benign Het
Huwe1 A G X: 150,669,762 (GRCm39) E1405G probably damaging Het
Ifi47 T C 11: 48,986,617 (GRCm39) I128T probably benign Het
Ift140 T A 17: 25,309,736 (GRCm39) Y1089N probably damaging Het
Ift56 A C 6: 38,402,097 (GRCm39) S530R probably benign Het
Il1r1 A T 1: 40,341,569 (GRCm39) H324L probably benign Het
Irx1 C T 13: 72,107,974 (GRCm39) R236H probably benign Het
Itpr3 T C 17: 27,323,530 (GRCm39) V1185A probably benign Het
Kif19a T C 11: 114,676,396 (GRCm39) V450A possibly damaging Het
Krtap21-1 G T 16: 89,200,446 (GRCm39) Y65* probably null Het
Ltn1 A T 16: 87,176,693 (GRCm39) N1704K possibly damaging Het
Med1 T C 11: 98,047,335 (GRCm39) probably benign Het
Meis2 T A 2: 115,893,804 (GRCm39) H36L probably damaging Het
Mier2 T C 10: 79,385,456 (GRCm39) N124S probably damaging Het
Mmp20 A G 9: 7,654,171 (GRCm39) probably null Het
Muc4 A G 16: 32,569,212 (GRCm39) T91A possibly damaging Het
Myo3b T A 2: 70,119,745 (GRCm39) V935E probably benign Het
Ndufa7 T C 17: 34,048,632 (GRCm39) probably benign Het
Nipal1 A G 5: 72,825,405 (GRCm39) E366G possibly damaging Het
Nobox A T 6: 43,282,617 (GRCm39) N263K probably benign Het
Notch2 A G 3: 98,018,890 (GRCm39) D684G probably damaging Het
Odr4 C A 1: 150,260,179 (GRCm39) probably null Het
Or2t1 A G 14: 14,328,789 (GRCm38) H226R probably benign Het
Or4c12b T A 2: 89,647,508 (GRCm39) Y273* probably null Het
Or5p69 C A 7: 107,967,336 (GRCm39) T213K probably damaging Het
Or5w13 T C 2: 87,523,344 (GRCm39) N294S probably damaging Het
Or6aa1 T C 7: 86,043,743 (GRCm39) probably benign Het
Plau A C 14: 20,889,965 (GRCm39) D270A possibly damaging Het
Pof1b T C X: 111,558,809 (GRCm39) probably null Het
Pramel23 A G 4: 143,424,913 (GRCm39) C177R probably damaging Het
Prtn3 A T 10: 79,717,767 (GRCm39) probably null Het
Ptges3 T A 10: 127,904,616 (GRCm39) D26E probably benign Het
Pxmp2 T C 5: 110,429,160 (GRCm39) E99G probably benign Het
Rasgef1a A G 6: 118,060,068 (GRCm39) R106G probably benign Het
Rnf208 T C 2: 25,133,774 (GRCm39) V156A probably benign Het
Rps6ka1 A T 4: 133,599,292 (GRCm39) I45N possibly damaging Het
Rps6ka4 C T 19: 6,809,623 (GRCm39) probably null Het
Shkbp1 A T 7: 27,042,141 (GRCm39) C605S probably damaging Het
Slc2a10 G A 2: 165,360,142 (GRCm39) D531N probably benign Het
Sox13 A G 1: 133,317,204 (GRCm39) L143P probably damaging Het
Stx2 C T 5: 129,069,285 (GRCm39) R142Q probably damaging Het
Tanc1 T A 2: 59,623,431 (GRCm39) probably benign Het
Tubgcp5 C T 7: 55,456,355 (GRCm39) Q316* probably null Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unc5d G A 8: 29,365,634 (GRCm39) T117I probably damaging Het
Vmn2r4 T C 3: 64,314,337 (GRCm39) I126V probably benign Het
Zfp410 T A 12: 84,378,594 (GRCm39) probably null Het
Other mutations in Rsbn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Rsbn1 APN 3 103,836,006 (GRCm39) missense probably benign 0.01
IGL00725:Rsbn1 APN 3 103,836,137 (GRCm39) missense probably damaging 0.96
IGL01682:Rsbn1 APN 3 103,869,696 (GRCm39) missense probably benign 0.03
IGL01978:Rsbn1 APN 3 103,868,816 (GRCm39) missense probably damaging 0.99
IGL02281:Rsbn1 APN 3 103,869,777 (GRCm39) missense probably damaging 0.99
IGL02615:Rsbn1 APN 3 103,861,068 (GRCm39) missense probably damaging 1.00
IGL02903:Rsbn1 APN 3 103,835,885 (GRCm39) missense probably damaging 1.00
IGL02927:Rsbn1 APN 3 103,869,668 (GRCm39) missense probably benign
IGL03007:Rsbn1 APN 3 103,836,195 (GRCm39) missense probably damaging 1.00
IGL03062:Rsbn1 APN 3 103,860,945 (GRCm39) intron probably benign
IGL03345:Rsbn1 APN 3 103,822,466 (GRCm39) missense possibly damaging 0.78
F2404:Rsbn1 UTSW 3 103,821,892 (GRCm39) nonsense probably null
R0277:Rsbn1 UTSW 3 103,821,897 (GRCm39) missense possibly damaging 0.66
R0815:Rsbn1 UTSW 3 103,861,469 (GRCm39) missense probably damaging 0.98
R1760:Rsbn1 UTSW 3 103,867,347 (GRCm39) missense probably damaging 1.00
R1801:Rsbn1 UTSW 3 103,822,188 (GRCm39) missense probably damaging 0.97
R2021:Rsbn1 UTSW 3 103,821,789 (GRCm39) missense probably benign
R2078:Rsbn1 UTSW 3 103,868,839 (GRCm39) missense probably damaging 1.00
R2330:Rsbn1 UTSW 3 103,821,816 (GRCm39) missense probably damaging 0.97
R3956:Rsbn1 UTSW 3 103,835,991 (GRCm39) missense probably damaging 0.99
R4094:Rsbn1 UTSW 3 103,835,974 (GRCm39) missense probably damaging 0.98
R4649:Rsbn1 UTSW 3 103,861,096 (GRCm39) splice site probably null
R4720:Rsbn1 UTSW 3 103,836,336 (GRCm39) missense possibly damaging 0.92
R5299:Rsbn1 UTSW 3 103,821,806 (GRCm39) missense probably benign 0.01
R5505:Rsbn1 UTSW 3 103,836,259 (GRCm39) missense probably damaging 1.00
R5699:Rsbn1 UTSW 3 103,869,801 (GRCm39) missense probably benign 0.02
R5775:Rsbn1 UTSW 3 103,869,888 (GRCm39) missense possibly damaging 0.80
R6509:Rsbn1 UTSW 3 103,867,348 (GRCm39) missense probably damaging 1.00
R6629:Rsbn1 UTSW 3 103,835,757 (GRCm39) missense probably damaging 1.00
R7070:Rsbn1 UTSW 3 103,836,299 (GRCm39) missense probably damaging 1.00
R7116:Rsbn1 UTSW 3 103,821,892 (GRCm39) nonsense probably null
R7623:Rsbn1 UTSW 3 103,822,326 (GRCm39) missense probably benign 0.00
R8021:Rsbn1 UTSW 3 103,835,898 (GRCm39) missense possibly damaging 0.81
R8524:Rsbn1 UTSW 3 103,835,687 (GRCm39) nonsense probably null
R8525:Rsbn1 UTSW 3 103,821,538 (GRCm39) unclassified probably benign
R8948:Rsbn1 UTSW 3 103,868,830 (GRCm39) missense possibly damaging 0.90
R9003:Rsbn1 UTSW 3 103,822,188 (GRCm39) missense probably damaging 0.97
R9502:Rsbn1 UTSW 3 103,822,146 (GRCm39) missense possibly damaging 0.92
Posted On 2015-12-18