Incidental Mutation 'IGL03345:Rsbn1'
ID417422
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 #IGL03345
Quality Score
Status
Chromosome3
Chromosomal Location103914120-103966636 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103915150 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 234 (R234G)
Ref Sequence ENSEMBL: ENSMUSP00000069246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029433] [ENSMUST00000051139] [ENSMUST00000068879] [ENSMUST00000146071]
Predicted Effect probably benign
Transcript: ENSMUST00000029433
SMART Domains Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
PTPc 23 291 3.32e-123 SMART
Blast:PTPc 305 502 2e-65 BLAST
PDB:1JEG|B 605 629 2e-8 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000051139
AA Change: R234G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: R234G

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: R234G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: R234G

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 noncoding transcript
Transcript: ENSMUST00000126548
Predicted Effect probably benign
Transcript: ENSMUST00000146071
SMART Domains Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
PTPc 23 291 3.32e-123 SMART
Blast:PTPc 305 502 9e-66 BLAST
internal_repeat_1 567 629 1.92e-7 PROSPERO
internal_repeat_1 651 705 1.92e-7 PROSPERO
Predicted Effect unknown
Transcript: ENSMUST00000151927
AA Change: R195G
SMART Domains Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: R195G

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
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
5330417C22Rik A G 3: 108,492,016 V86A possibly damaging Het
9130409I23Rik A T 1: 181,055,372 H233L probably benign Het
Abcc3 A G 11: 94,359,337 W987R probably damaging Het
Adcy5 T C 16: 35,248,814 V384A probably benign Het
Akap12 T C 10: 4,356,697 V1169A probably benign Het
Atp8a2 T C 14: 59,774,011 T950A probably benign Het
Avil T C 10: 127,008,957 probably benign Het
Bccip A G 7: 133,709,491 D45G probably benign Het
Bcl9 A G 3: 97,209,192 S729P probably benign Het
C3 T A 17: 57,219,585 I799F probably damaging Het
Cstf2 C T X: 134,061,045 R80C probably damaging Het
Dock7 A G 4: 98,984,819 F1130S possibly damaging Het
Fat2 C T 11: 55,282,361 D2509N probably damaging Het
Fut10 T C 8: 31,260,041 S452P probably damaging Het
Gabrb1 T A 5: 72,136,565 M394K possibly damaging Het
Gkn3 T A 6: 87,388,816 E7V probably null Het
Gpld1 G A 13: 24,987,024 G803R probably damaging Het
Hipk2 A G 6: 38,748,002 probably benign Het
Kcnu1 A T 8: 25,881,293 probably benign Het
Kidins220 A T 12: 25,003,045 S445C probably damaging Het
Ltbp1 A G 17: 75,066,159 K266E probably damaging Het
Myh4 A T 11: 67,255,478 D1454V probably damaging Het
Nrf1 A C 6: 30,089,948 T9P probably damaging Het
Nt5dc1 T C 10: 34,324,462 E187G probably benign Het
Obscn T A 11: 58,995,482 probably benign Het
Pkd2l2 T C 18: 34,425,089 Y274H probably damaging Het
Rgs8 A G 1: 153,692,810 K149R probably benign Het
Rinl A G 7: 28,796,797 E401G possibly damaging Het
Slc6a3 A G 13: 73,571,514 D554G probably benign Het
Slc7a2 A G 8: 40,916,493 S646G probably benign Het
Syt5 A G 7: 4,542,207 V231A probably benign Het
Timeless T G 10: 128,247,586 S695A probably benign Het
Tmem131l G A 3: 83,961,589 P160S probably damaging Het
Tspear C A 10: 77,874,882 probably null Het
Ubn1 T A 16: 5,081,964 H1113Q probably damaging Het
Vmn2r49 T G 7: 9,984,694 K481T probably damaging Het
Xdh T C 17: 73,906,032 N872S probably 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
IGL02281:Rsbn1 APN 3 103962461 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
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 On2016-08-02