Incidental Mutation 'IGL01631:Rsbn1l'
ID93448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsbn1l
Ensembl Gene ENSMUSG00000039968
Gene Nameround spermatid basic protein 1-like
SynonymsC330002G24Rik, 8430412F05Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #IGL01631
Quality Score
Status
Chromosome5
Chromosomal Location20893028-20956398 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20896572 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 657 (S657T)
Ref Sequence ENSEMBL: ENSMUSP00000039482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036489] [ENSMUST00000196780]
Predicted Effect probably damaging
Transcript: ENSMUST00000036489
AA Change: S657T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039482
Gene: ENSMUSG00000039968
AA Change: S657T

DomainStartEndE-ValueType
low complexity region 52 62 N/A INTRINSIC
low complexity region 71 109 N/A INTRINSIC
low complexity region 136 156 N/A INTRINSIC
low complexity region 176 194 N/A INTRINSIC
low complexity region 229 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196780
SMART Domains Protein: ENSMUSP00000142789
Gene: ENSMUSG00000039968

DomainStartEndE-ValueType
low complexity region 52 62 N/A INTRINSIC
low complexity region 71 109 N/A INTRINSIC
low complexity region 136 156 N/A INTRINSIC
low complexity region 176 194 N/A INTRINSIC
low complexity region 229 249 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,414 I228M probably damaging Het
Apip C A 2: 103,073,849 probably benign Het
Arid4a C T 12: 71,022,262 probably benign Het
Brwd1 C A 16: 96,046,466 E98D probably damaging Het
Cactin A G 10: 81,323,224 E303G probably benign Het
Ccdc181 T A 1: 164,280,144 I132K possibly damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Cog4 A G 8: 110,881,840 E756G probably damaging Het
Ctsf T C 19: 4,858,078 L217P probably damaging Het
Dmp1 G T 5: 104,212,868 R470L probably benign Het
Dnajc9 T C 14: 20,388,108 D142G probably benign Het
Ednrb T A 14: 103,843,225 R84S probably benign Het
Gm1110 A T 9: 26,897,916 probably null Het
Gm13119 A G 4: 144,362,445 H111R probably benign Het
Has2 A G 15: 56,681,676 S177P possibly damaging Het
Herc6 C T 6: 57,604,107 S264F probably benign Het
Il1rl2 T A 1: 40,356,814 probably null Het
Ltbp2 A G 12: 84,809,146 probably null Het
Map4 A G 9: 110,063,133 probably benign Het
March4 T A 1: 72,452,531 K194* probably null Het
Megf10 A G 18: 57,259,797 D422G possibly damaging Het
Mfsd2a C A 4: 122,949,307 A394S probably benign Het
Mmp27 T C 9: 7,573,288 probably benign Het
Mvd A G 8: 122,434,821 Y370H possibly damaging Het
Olfr1254 T C 2: 89,788,785 D189G probably damaging Het
Olfr922 T A 9: 38,816,039 C179S probably damaging Het
Ptk2 G A 15: 73,216,371 H859Y probably damaging Het
Ptprq T A 10: 107,643,538 E1209D probably benign Het
Rhot1 C T 11: 80,265,774 T636M probably damaging Het
Ripk2 C A 4: 16,163,342 A19S possibly damaging Het
Sema6c A G 3: 95,170,403 T450A probably benign Het
Slc25a1 C T 16: 17,926,066 C262Y probably damaging Het
Slfn3 T C 11: 83,213,535 S288P probably damaging Het
Snrnp200 T A 2: 127,238,824 probably benign Het
Ssu2 T C 6: 112,374,882 Y294C probably damaging Het
Terb1 A G 8: 104,472,864 S483P probably damaging Het
Tsga13 T C 6: 30,913,566 K8E possibly damaging Het
Zbbx T G 3: 75,078,677 D351A probably damaging Het
Zfp454 G T 11: 50,883,735 A37D probably benign Het
Other mutations in Rsbn1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Rsbn1l APN 5 20896155 missense probably benign 0.08
IGL01631:Rsbn1l APN 5 20896571 missense probably damaging 1.00
IGL02237:Rsbn1l APN 5 20919606 missense probably benign 0.39
IGL02434:Rsbn1l APN 5 20919734 missense probably damaging 0.99
IGL02458:Rsbn1l APN 5 20951736 missense probably damaging 0.99
IGL02994:Rsbn1l APN 5 20908234 missense probably damaging 1.00
PIT4280001:Rsbn1l UTSW 5 20919655 missense probably damaging 1.00
R0288:Rsbn1l UTSW 5 20920040 missense probably damaging 0.97
R1429:Rsbn1l UTSW 5 20920018 missense probably damaging 1.00
R1524:Rsbn1l UTSW 5 20951673 missense probably damaging 1.00
R1713:Rsbn1l UTSW 5 20951490 missense probably benign 0.18
R1875:Rsbn1l UTSW 5 20951698 missense probably benign 0.17
R1998:Rsbn1l UTSW 5 20902370 missense probably damaging 1.00
R1999:Rsbn1l UTSW 5 20902370 missense probably damaging 1.00
R2000:Rsbn1l UTSW 5 20902370 missense probably damaging 1.00
R2504:Rsbn1l UTSW 5 20902366 missense probably damaging 1.00
R2566:Rsbn1l UTSW 5 20919769 missense probably benign 0.40
R3434:Rsbn1l UTSW 5 20905930 splice site probably benign
R3789:Rsbn1l UTSW 5 20896108 missense probably benign 0.24
R3893:Rsbn1l UTSW 5 20905840 missense probably damaging 1.00
R3924:Rsbn1l UTSW 5 20919787 missense probably damaging 1.00
R4335:Rsbn1l UTSW 5 20908193 missense probably null 0.45
R4422:Rsbn1l UTSW 5 20896546 missense probably damaging 1.00
R5131:Rsbn1l UTSW 5 20896245 missense possibly damaging 0.89
R5212:Rsbn1l UTSW 5 20896214 missense probably benign 0.03
R5739:Rsbn1l UTSW 5 20905816 missense probably damaging 1.00
R6736:Rsbn1l UTSW 5 20908224 missense probably benign 0.45
R6980:Rsbn1l UTSW 5 20896484 missense probably benign
R7252:Rsbn1l UTSW 5 20908198 missense probably damaging 1.00
R7443:Rsbn1l UTSW 5 20927623 missense possibly damaging 0.61
R7538:Rsbn1l UTSW 5 20896457 missense probably benign 0.01
Posted On2013-12-09