Incidental Mutation 'IGL00595:Rsbn1'
ID6795
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 #IGL00595
Quality Score
Status
Chromosome3
Chromosomal Location103914120-103966636 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103928690 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 348 (N348S)
Ref Sequence ENSEMBL: ENSMUSP00000069246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051139] [ENSMUST00000068879]
Predicted Effect probably benign
Transcript: ENSMUST00000051139
AA Change: N348S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: N348S

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 benign
Transcript: ENSMUST00000068879
AA Change: N348S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: N348S

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 unknown
Transcript: ENSMUST00000151927
AA Change: N309S
SMART Domains Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: N309S

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 unknown
Transcript: ENSMUST00000185731
AA Change: N24S
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G A 10: 28,973,958 R161* probably null Het
2610002M06Rik A G X: 107,787,844 S189P probably damaging Het
Adam20 T A 8: 40,796,047 F398Y probably benign Het
Ano1 T A 7: 144,638,513 I374F probably damaging Het
Apol10a A T 15: 77,484,935 N45Y probably null Het
Asnsd1 A G 1: 53,347,488 S327P probably damaging Het
Ccdc83 T A 7: 90,244,044 K168N probably damaging Het
Dpysl4 G T 7: 139,096,176 V274F probably damaging Het
Fxr2 T G 11: 69,649,192 S292A probably benign Het
Gm15130 T A 2: 111,138,977 D132V unknown Het
Gpr161 A G 1: 165,318,803 H436R probably benign Het
Jaml C T 9: 45,100,989 probably benign Het
Kcnc2 A T 10: 112,461,988 S606C probably damaging Het
Kcnc2 G T 10: 112,461,987 E605D probably benign Het
Kcnrg T C 14: 61,607,910 I133T probably damaging Het
Kdm7a A G 6: 39,144,510 I837T probably benign Het
Lactb2 A G 1: 13,630,126 L227S probably benign Het
Lats1 T G 10: 7,702,305 S398A probably benign Het
Llgl2 T A 11: 115,834,884 D19E probably benign Het
Nup107 T C 10: 117,773,368 probably null Het
Nup107 A T 10: 117,773,352 C365* probably null Het
Plekhf2 T C 4: 10,991,022 K107E probably damaging Het
Rnf139 A T 15: 58,898,542 I139F possibly damaging Het
Rttn A T 18: 88,974,340 Q136H probably benign Het
Syne2 C T 12: 75,925,646 T1052I possibly damaging Het
Tom1l1 A T 11: 90,674,740 L101Q probably damaging Het
Tubal3 A G 13: 3,933,015 N265S probably damaging Het
Zfp141 T C 7: 42,476,655 N131S probably benign Het
Zfp944 T C 17: 22,339,205 S354G probably benign Het
Zfp961 G A 8: 71,968,428 A262T probably damaging Het
Other mutations in Rsbn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-04-20