Incidental Mutation 'IGL02281:Rsbn1'
ID289851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsbn1
Ensembl Gene ENSMUSG00000044098
Gene Namerosbin, round spermatid basic protein 1
SynonymsC230004D03Rik, Rsbp
Accession Numbers

Genbank: NM_172684; MGI: 2444993

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02281
Quality Score
Status
Chromosome3
Chromosomal Location103914120-103966636 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103962461 bp
ZygosityHeterozygous
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]
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: 105,567,154 E60G probably benign Het
Aldh3a1 T G 11: 61,217,123 probably null Het
Bach2 T C 4: 32,562,513 C327R possibly damaging Het
Bcam C T 7: 19,758,691 G523D probably damaging Het
Bmpr2 T A 1: 59,868,344 D865E probably damaging Het
Calm1 A T 12: 100,205,624 I112F probably damaging Het
Ceacam3 T C 7: 17,161,731 V542A probably benign Het
Clec5a A T 6: 40,584,402 D36E probably benign Het
Clspn T A 4: 126,565,770 C321S possibly damaging Het
Cmtr1 T A 17: 29,691,281 D453E probably benign Het
Cntnap1 T A 11: 101,182,254 D561E possibly damaging Het
Cul5 A G 9: 53,635,049 V137A possibly damaging Het
Cyp2b9 A G 7: 26,201,104 Y389C probably damaging Het
Ddi2 A G 4: 141,692,419 V340A probably benign Het
Etv4 T C 11: 101,773,719 Y235C probably damaging Het
Gm3099 G A 14: 4,001,257 probably benign Het
Gpsm1 T A 2: 26,339,626 probably benign Het
Idh2 A G 7: 80,095,802 probably null Het
Kit G A 5: 75,654,534 E973K possibly damaging Het
Lilra5 A G 7: 4,238,783 I194V probably benign Het
Lrp6 A C 6: 134,457,734 N1335K probably benign Het
Map9 G A 3: 82,391,146 E613K possibly damaging Het
Mroh2b G A 15: 4,952,263 A1519T probably benign Het
Nefm A G 14: 68,124,464 V117A probably damaging Het
Nr2c2 T A 6: 92,154,514 S186T probably benign Het
Pde2a G A 7: 101,481,392 A80T probably benign Het
Plcd1 A T 9: 119,074,773 C334S probably benign Het
Pomt1 T C 2: 32,248,646 S425P possibly damaging Het
Pspc1 G T 14: 56,723,178 P497T probably benign Het
Rnf123 G A 9: 108,071,452 P58L probably benign Het
Rph3a T C 5: 120,948,833 T435A probably damaging Het
Sfrp2 A G 3: 83,773,139 E202G possibly damaging Het
Slc25a38 T C 9: 120,117,532 S111P probably damaging Het
Tfcp2l1 T C 1: 118,669,380 probably benign Het
Tonsl A T 15: 76,634,074 L566H probably damaging Het
Tsc1 C A 2: 28,663,595 D153E probably damaging Het
Vmn2r37 A T 7: 9,217,882 H327Q possibly damaging Het
Other mutations in Rsbn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Rsbn1 APN 3 103928690 missense probably benign 0.01
IGL00725:Rsbn1 APN 3 103928821 missense probably damaging 0.96
IGL01682:Rsbn1 APN 3 103962380 missense probably benign 0.03
IGL01978:Rsbn1 APN 3 103961500 missense probably damaging 0.99
IGL02615:Rsbn1 APN 3 103953752 missense probably damaging 1.00
IGL02902:Rsbn1 APN 3 103953656 missense possibly damaging 0.62
IGL02903:Rsbn1 APN 3 103928569 missense probably damaging 1.00
IGL02927:Rsbn1 APN 3 103962352 missense probably benign
IGL03007:Rsbn1 APN 3 103928879 missense probably damaging 1.00
IGL03062:Rsbn1 APN 3 103953629 intron probably benign
IGL03345:Rsbn1 APN 3 103915150 missense possibly damaging 0.78
F2404:Rsbn1 UTSW 3 103914576 nonsense probably null
R0277:Rsbn1 UTSW 3 103914581 missense possibly damaging 0.66
R0815:Rsbn1 UTSW 3 103954153 missense probably damaging 0.98
R1760:Rsbn1 UTSW 3 103960031 missense probably damaging 1.00
R1801:Rsbn1 UTSW 3 103914872 missense probably damaging 0.97
R2021:Rsbn1 UTSW 3 103914473 missense probably benign
R2078:Rsbn1 UTSW 3 103961523 missense probably damaging 1.00
R2330:Rsbn1 UTSW 3 103914500 missense probably damaging 0.97
R3956:Rsbn1 UTSW 3 103928675 missense probably damaging 0.99
R4094:Rsbn1 UTSW 3 103928658 missense probably damaging 0.98
R4649:Rsbn1 UTSW 3 103953780 splice site probably null
R4720:Rsbn1 UTSW 3 103929020 missense possibly damaging 0.92
R5299:Rsbn1 UTSW 3 103914490 missense probably benign 0.01
R5505:Rsbn1 UTSW 3 103928943 missense probably damaging 1.00
R5699:Rsbn1 UTSW 3 103962485 missense probably benign 0.02
R5775:Rsbn1 UTSW 3 103962572 missense possibly damaging 0.80
R6509:Rsbn1 UTSW 3 103960032 missense probably damaging 1.00
R6629:Rsbn1 UTSW 3 103928441 missense probably damaging 1.00
R7070:Rsbn1 UTSW 3 103928983 missense probably damaging 1.00
R7116:Rsbn1 UTSW 3 103914576 nonsense probably null
Posted On2015-04-16