Incidental Mutation 'IGL01978:Rsbn1'
ID181766
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 #IGL01978
Quality Score
Status
Chromosome3
Chromosomal Location103914120-103966636 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103961500 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 618 (D618E)
Ref Sequence ENSEMBL: ENSMUSP00000069246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051139] [ENSMUST00000068879]
Predicted Effect probably damaging
Transcript: ENSMUST00000051139
AA Change: D618E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: D618E

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: D618E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: D618E

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G 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
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 On2014-05-07