Incidental Mutation 'IGL02903:Rsbn1'
ID363695
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 #IGL02903
Quality Score
Status
Chromosome3
Chromosomal Location103914120-103966636 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103928569 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 308 (S308P)
Ref Sequence ENSEMBL: ENSMUSP00000069246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051139] [ENSMUST00000068879]
Predicted Effect probably damaging
Transcript: ENSMUST00000051139
AA Change: S308P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: S308P

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: S308P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: S308P

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: S269P
SMART Domains Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: S269P

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H 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
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
R7623:Rsbn1 UTSW 3 103915010 missense probably benign 0.00
Posted On2015-12-18