Incidental Mutation 'IGL02281:Rsbn1'
ID 289851
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 # IGL02281
Quality Score
Status
Chromosome 3
Chromosomal Location 103821436-103873952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103869777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 746 (L746P)
Ref Sequence ENSEMBL: ENSMUSP00000069246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051139] [ENSMUST00000068879]
AlphaFold Q80T69
Predicted Effect probably damaging
Transcript: ENSMUST00000051139
AA Change: L746P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: L746P

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 probably damaging
Transcript: ENSMUST00000068879
AA Change: L746P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: L746P

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 noncoding transcript
Transcript: ENSMUST00000160110
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,293,786 (GRCm39) E60G probably benign Het
Aldh3a1 T G 11: 61,107,949 (GRCm39) probably null Het
Bach2 T C 4: 32,562,513 (GRCm39) C327R possibly damaging Het
Bcam C T 7: 19,492,616 (GRCm39) G523D probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Calm1 A T 12: 100,171,883 (GRCm39) I112F probably damaging Het
Ceacam3 T C 7: 16,895,656 (GRCm39) V542A probably benign Het
Clec5a A T 6: 40,561,336 (GRCm39) D36E probably benign Het
Clspn T A 4: 126,459,563 (GRCm39) C321S possibly damaging Het
Cmtr1 T A 17: 29,910,255 (GRCm39) D453E probably benign Het
Cntnap1 T A 11: 101,073,080 (GRCm39) D561E possibly damaging Het
Cul5 A G 9: 53,546,349 (GRCm39) V137A possibly damaging Het
Cyp2b9 A G 7: 25,900,529 (GRCm39) Y389C probably damaging Het
Ddi2 A G 4: 141,419,730 (GRCm39) V340A probably benign Het
Etv4 T C 11: 101,664,545 (GRCm39) Y235C probably damaging Het
Gm3099 G A 14: 15,347,225 (GRCm39) probably benign Het
Gpsm1 T A 2: 26,229,638 (GRCm39) probably benign Het
Idh2 A G 7: 79,745,550 (GRCm39) probably null Het
Kit G A 5: 75,815,194 (GRCm39) E973K possibly damaging Het
Lilra5 A G 7: 4,241,782 (GRCm39) I194V probably benign Het
Lrp6 A C 6: 134,434,697 (GRCm39) N1335K probably benign Het
Map9 G A 3: 82,298,453 (GRCm39) E613K possibly damaging Het
Mroh2b G A 15: 4,981,745 (GRCm39) A1519T probably benign Het
Nefm A G 14: 68,361,913 (GRCm39) V117A probably damaging Het
Nr2c2 T A 6: 92,131,495 (GRCm39) S186T probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Plcd1 A T 9: 118,903,841 (GRCm39) C334S probably benign Het
Pomt1 T C 2: 32,138,658 (GRCm39) S425P possibly damaging Het
Pspc1 G T 14: 56,960,635 (GRCm39) P497T probably benign Het
Rnf123 G A 9: 107,948,651 (GRCm39) P58L probably benign Het
Rph3a T C 5: 121,086,896 (GRCm39) T435A probably damaging Het
Sfrp2 A G 3: 83,680,446 (GRCm39) E202G possibly damaging Het
Slc25a38 T C 9: 119,946,598 (GRCm39) S111P probably damaging Het
Tfcp2l1 T C 1: 118,597,110 (GRCm39) probably benign Het
Tonsl A T 15: 76,518,274 (GRCm39) L566H probably damaging Het
Tsc1 C A 2: 28,553,607 (GRCm39) D153E probably damaging Het
Vmn2r37 A T 7: 9,220,881 (GRCm39) H327Q possibly damaging 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
IGL02615:Rsbn1 APN 3 103,861,068 (GRCm39) missense probably damaging 1.00
IGL02902:Rsbn1 APN 3 103,860,972 (GRCm39) missense possibly damaging 0.62
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 2015-04-16