Incidental Mutation 'R5212:Rsbn1l'
ID403175
Institutional Source Beutler Lab
Gene Symbol Rsbn1l
Ensembl Gene ENSMUSG00000039968
Gene Nameround spermatid basic protein 1-like
SynonymsC330002G24Rik, 8430412F05Rik
MMRRC Submission 042786-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #R5212 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location20893028-20956398 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20896214 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 776 (M776K)
Ref Sequence ENSEMBL: ENSMUSP00000039482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036489] [ENSMUST00000196780]
Predicted Effect probably benign
Transcript: ENSMUST00000036489
AA Change: M776K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000039482
Gene: ENSMUSG00000039968
AA Change: M776K

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
Meta Mutation Damage Score 0.15 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 138,065,850 S267T possibly damaging Het
Abca9 T C 11: 110,107,226 D1514G probably benign Het
Adamtsl4 T A 3: 95,677,670 D896V probably damaging Het
Amer2 A G 14: 60,379,820 Y362C probably damaging Het
Arglu1 T A 8: 8,683,843 R158W probably damaging Het
Arhgef7 A G 8: 11,728,388 E46G probably benign Het
Atg2b A G 12: 105,646,796 V1172A probably benign Het
Bhlhe23 T A 2: 180,776,093 K217N probably damaging Het
Birc6 A C 17: 74,670,374 N4388T probably damaging Het
Ccp110 C T 7: 118,729,696 A845V probably damaging Het
Cd63 A G 10: 128,911,853 Y105C probably damaging Het
Cdk11b T C 4: 155,638,615 probably null Het
Clip1 T A 5: 123,630,681 R618S probably benign Het
Crybg1 A T 10: 43,967,743 F1731L possibly damaging Het
Dock1 A C 7: 134,789,194 K728Q possibly damaging Het
Emc2 A G 15: 43,510,844 E180G probably damaging Het
F13b A T 1: 139,512,987 I394F probably benign Het
Fnta A G 8: 26,009,707 I155T probably benign Het
Fshr T A 17: 88,986,256 E331D probably benign Het
Fshr T A 17: 88,986,257 E331V probably benign Het
Gas2l1 A T 11: 5,061,108 C574S probably benign Het
Ggnbp2 T A 11: 84,854,021 probably benign Het
Gm3371 A C 14: 44,403,654 probably benign Het
Gm7489 T A 15: 53,885,620 probably benign Het
Hand1 A C 11: 57,831,447 F114V probably damaging Het
Itga4 A C 2: 79,280,595 H259P probably damaging Het
Jakmip1 A T 5: 37,104,901 H183L probably benign Het
Kif1bp A T 10: 62,563,129 probably benign Het
Krt8 G T 15: 101,997,967 A369D possibly damaging Het
Krt82 T C 15: 101,545,049 S301G probably damaging Het
Lig3 A G 11: 82,787,678 T248A probably benign Het
Madcam1 C G 10: 79,668,345 T255S probably benign Het
Med20 T C 17: 47,618,850 Y71H probably benign Het
Mtss1l A G 8: 110,729,218 I107V probably damaging Het
Nans T C 4: 46,502,547 F328S possibly damaging Het
Ncbp3 A G 11: 73,053,547 probably benign Het
Nek8 T C 11: 78,172,516 M1V probably null Het
Nufip1 A T 14: 76,133,098 N413I possibly damaging Het
Pbx3 T C 2: 34,288,781 probably benign Het
Plppr3 C T 10: 79,862,445 G419R probably benign Het
Rfx1 G T 8: 84,066,592 probably benign Het
Rnpepl1 C T 1: 92,911,323 A68V probably benign Het
Setd7 A T 3: 51,542,817 Y63N probably damaging Het
Slc45a2 C T 15: 11,027,785 T480I probably damaging Het
Snap47 T C 11: 59,428,352 E320G probably damaging Het
Spaca6 C A 17: 17,838,394 P68Q probably benign Het
Tdrd3 G C 14: 87,506,215 R527P probably damaging Het
Tmprss2 G T 16: 97,576,292 Q202K probably benign Het
Tmprss6 A G 15: 78,446,260 V69A probably damaging Het
Trav6-1 A T 14: 52,638,704 Q27L probably benign Het
Ttn T C 2: 76,789,601 I15908V probably benign Het
Ttn T A 2: 76,797,675 D12931V probably damaging Het
Ttn C T 2: 76,901,613 probably benign Het
Ush2a T A 1: 188,444,705 probably null Het
Wls A G 3: 159,873,008 N69S 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
IGL01631:Rsbn1l APN 5 20896572 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
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
R5739:Rsbn1l UTSW 5 20905816 missense probably damaging 1.00
R6736:Rsbn1l UTSW 5 20908224 missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- AGAGCAATTCCTAGGCTTGC -3'
(R):5'- CTCTGTGTTGTCAGACAAACTTCC -3'

Sequencing Primer
(F):5'- GAGCAATTCCTAGGCTTGCTTTCAG -3'
(R):5'- GTTGTCAGACAAACTTCCTTCTAAG -3'
Posted On2016-07-22