Incidental Mutation 'R4967:4930447C04Rik'
ID 384139
Institutional Source Beutler Lab
Gene Symbol 4930447C04Rik
Ensembl Gene ENSMUSG00000021098
Gene Name RIKEN cDNA 4930447C04 gene
Synonyms Six6os1, Six6as
MMRRC Submission 042563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R4967 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 72926967-72964742 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 72956502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 199 (Y199*)
Ref Sequence ENSEMBL: ENSMUSP00000119777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044000] [ENSMUST00000110489] [ENSMUST00000130635] [ENSMUST00000131033] [ENSMUST00000132067] [ENSMUST00000136075]
AlphaFold Q9CTN5
Predicted Effect probably benign
Transcript: ENSMUST00000044000
SMART Domains Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098

DomainStartEndE-ValueType
low complexity region 137 147 N/A INTRINSIC
coiled coil region 197 233 N/A INTRINSIC
low complexity region 247 261 N/A INTRINSIC
low complexity region 264 275 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
low complexity region 522 534 N/A INTRINSIC
low complexity region 552 565 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110489
SMART Domains Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098

DomainStartEndE-ValueType
Pfam:S6OS1 31 575 1.1e-277 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130635
Predicted Effect probably null
Transcript: ENSMUST00000131033
AA Change: Y199*
SMART Domains Protein: ENSMUSP00000119777
Gene: ENSMUSG00000021098
AA Change: Y199*

DomainStartEndE-ValueType
low complexity region 137 147 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132016
Predicted Effect probably benign
Transcript: ENSMUST00000132067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132901
Predicted Effect probably benign
Transcript: ENSMUST00000136075
Predicted Effect probably benign
Transcript: ENSMUST00000143960
SMART Domains Protein: ENSMUSP00000116391
Gene: ENSMUSG00000021098

DomainStartEndE-ValueType
Pfam:S6OS1 1 70 6.1e-21 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (102/102)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with meiotic arrest and defective synaptic formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,637,029 (GRCm39) I394F probably benign Het
Arhgap26 G T 18: 39,379,893 (GRCm39) R485L probably damaging Het
Atat1 T A 17: 36,212,467 (GRCm39) N231I probably damaging Het
B4galnt2 T C 11: 95,760,100 (GRCm39) N309S probably benign Het
Bank1 A T 3: 135,772,134 (GRCm39) F499I probably damaging Het
Bcl9l A G 9: 44,416,365 (GRCm39) D146G possibly damaging Het
Bglap3 A T 3: 88,283,671 (GRCm39) probably benign Het
Bscl2 C A 19: 8,825,344 (GRCm39) T376K probably benign Het
Cercam A T 2: 29,761,033 (GRCm39) probably null Het
Clec4f C T 6: 83,633,012 (GRCm39) M1I probably null Het
Clec4n A T 6: 123,209,066 (GRCm39) I14F probably benign Het
Cmya5 T C 13: 93,227,093 (GRCm39) E2665G probably damaging Het
Cog4 T A 8: 111,578,915 (GRCm39) probably null Het
Cubn A G 2: 13,352,856 (GRCm39) F1961L probably benign Het
Cyp4a29 A T 4: 115,104,196 (GRCm39) H88L probably benign Het
Dhdh A G 7: 45,128,530 (GRCm39) L216P probably damaging Het
Dpp6 T C 5: 27,871,509 (GRCm39) F544S probably damaging Het
Dthd1 C T 5: 63,045,549 (GRCm39) T771I probably benign Het
Emc10 A G 7: 44,142,612 (GRCm39) probably null Het
Fgg A T 3: 82,920,072 (GRCm39) T284S probably benign Het
Gask1a C T 9: 121,794,784 (GRCm39) R313W probably damaging Het
Gm3002 T A 14: 3,824,737 (GRCm38) N24K probably damaging Het
Gm8674 G A 13: 50,056,034 (GRCm39) noncoding transcript Het
Gpr63 G A 4: 25,008,368 (GRCm39) W364* probably null Het
Hcn4 C G 9: 58,767,111 (GRCm39) P891A unknown Het
Hcrtr1 A T 4: 130,024,792 (GRCm39) F365I possibly damaging Het
Hmcn2 A G 2: 31,244,176 (GRCm39) probably null Het
Hoxc5 T A 15: 102,923,786 (GRCm39) L194H probably damaging Het
Ifna11 A G 4: 88,738,287 (GRCm39) N31S probably null Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Iqgap2 A T 13: 95,766,514 (GRCm39) D1496E probably benign Het
Kif28 G T 1: 179,536,007 (GRCm39) Q556K probably damaging Het
Klhl42 C T 6: 147,009,502 (GRCm39) T447I possibly damaging Het
Lrp1b A C 2: 41,678,986 (GRCm39) D35E probably damaging Het
Lsm14b A G 2: 179,675,692 (GRCm39) probably benign Het
Map3k1 T C 13: 111,909,272 (GRCm39) E226G probably damaging Het
Map3k14 T A 11: 103,130,357 (GRCm39) N187Y probably benign Het
Mcm6 A T 1: 128,263,586 (GRCm39) V645E probably damaging Het
Mdh1b G T 1: 63,759,022 (GRCm39) P190Q probably damaging Het
Meiob T G 17: 25,037,353 (GRCm39) L77R probably damaging Het
Mrgpra3 A T 7: 47,239,267 (GRCm39) F220I probably benign Het
Mrtfa C A 15: 80,929,476 (GRCm39) probably benign Het
Mtor T A 4: 148,575,817 (GRCm39) S1324T possibly damaging Het
Myot T A 18: 44,487,995 (GRCm39) D437E possibly damaging Het
Ncoa6 G T 2: 155,263,252 (GRCm39) T394K possibly damaging Het
Nf1 T A 11: 79,456,379 (GRCm39) probably null Het
Nup210 T A 6: 91,013,451 (GRCm39) T1190S possibly damaging Het
Odf1 T A 15: 38,226,652 (GRCm39) I184N probably damaging Het
Or10d1 C T 9: 39,484,054 (GRCm39) C167Y probably damaging Het
Or13d1 T C 4: 52,970,960 (GRCm39) V113A possibly damaging Het
Or1n1b A G 2: 36,780,719 (GRCm39) I47T probably damaging Het
Or5k15 G T 16: 58,709,957 (GRCm39) Q209K possibly damaging Het
Padi1 A G 4: 140,572,901 (GRCm39) V21A probably benign Het
Pdzrn3 C T 6: 101,128,551 (GRCm39) R705H probably damaging Het
Pik3cb T C 9: 98,987,685 (GRCm39) I18V probably benign Het
Pmpca T C 2: 26,280,320 (GRCm39) S117P probably damaging Het
Poteg T A 8: 27,985,009 (GRCm39) probably benign Het
Pramel32 T C 4: 88,547,432 (GRCm39) T80A probably damaging Het
Rab30 G A 7: 92,478,771 (GRCm39) R72H probably damaging Het
Ramp2 T A 11: 101,138,383 (GRCm39) probably null Het
Rbks G A 5: 31,781,876 (GRCm39) T308I probably damaging Het
Rnf112 A G 11: 61,343,752 (GRCm39) probably benign Het
Rnf38 G A 4: 44,152,460 (GRCm39) P3S probably damaging Het
Sec16a A G 2: 26,302,883 (GRCm39) S2344P probably benign Het
Slc16a8 C T 15: 79,137,084 (GRCm39) V109M possibly damaging Het
Slc28a1 A T 7: 80,791,757 (GRCm39) T308S possibly damaging Het
Slc39a3 T C 10: 80,867,453 (GRCm39) T98A possibly damaging Het
Smarcc2 T C 10: 128,319,049 (GRCm39) F731L probably damaging Het
Smc4 A G 3: 68,925,572 (GRCm39) probably benign Het
Sparcl1 T G 5: 104,240,776 (GRCm39) D216A probably damaging Het
Speg G A 1: 75,364,513 (GRCm39) R192H probably damaging Het
Sspo T C 6: 48,441,539 (GRCm39) L1892P probably damaging Het
Styxl2 A T 1: 165,954,675 (GRCm39) V25E probably damaging Het
Tacc2 A G 7: 130,225,678 (GRCm39) N807D probably damaging Het
Teddm1a A T 1: 153,767,979 (GRCm39) K148* probably null Het
Tex15 T A 8: 34,064,498 (GRCm39) D1309E probably benign Het
Thbs1 A T 2: 117,945,259 (GRCm39) E277D probably benign Het
Ticrr G A 7: 79,310,158 (GRCm39) R24Q probably damaging Het
Tigd4 A G 3: 84,502,460 (GRCm39) E459G probably benign Het
Tln2 C A 9: 67,262,407 (GRCm39) A615S probably damaging Het
Tmprss5 T C 9: 49,026,817 (GRCm39) V410A probably damaging Het
Tnrc6a G T 7: 122,789,095 (GRCm39) W1638L probably damaging Het
Tpr A G 1: 150,285,810 (GRCm39) D424G probably damaging Het
Trim34a A T 7: 103,910,271 (GRCm39) K358* probably null Het
Tssk5 T A 15: 76,258,856 (GRCm39) D10V possibly damaging Het
Usp35 A C 7: 96,962,782 (GRCm39) L470R probably damaging Het
Usp42 T C 5: 143,701,119 (GRCm39) D968G possibly damaging Het
Utrn A G 10: 12,331,164 (GRCm39) V2924A probably damaging Het
Wdtc1 C A 4: 133,021,654 (GRCm39) A627S probably damaging Het
Xrra1 A G 7: 99,555,730 (GRCm39) T366A probably damaging Het
Zfp712 T A 13: 67,188,773 (GRCm39) K585* probably null Het
Zfp97 T A 17: 17,365,393 (GRCm39) N297K probably damaging Het
Zfp97 G T 17: 17,364,938 (GRCm39) E146* probably null Het
Other mutations in 4930447C04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:4930447C04Rik APN 12 72,928,160 (GRCm39) missense possibly damaging 0.71
IGL01611:4930447C04Rik APN 12 72,954,644 (GRCm39) missense possibly damaging 0.93
IGL02352:4930447C04Rik APN 12 72,941,829 (GRCm39) splice site probably null
IGL02359:4930447C04Rik APN 12 72,941,829 (GRCm39) splice site probably null
FR4304:4930447C04Rik UTSW 12 72,928,061 (GRCm39) small deletion probably benign
R0650:4930447C04Rik UTSW 12 72,956,830 (GRCm39) missense probably damaging 0.99
R0651:4930447C04Rik UTSW 12 72,956,830 (GRCm39) missense probably damaging 0.99
R1271:4930447C04Rik UTSW 12 72,939,657 (GRCm39) missense possibly damaging 0.71
R1321:4930447C04Rik UTSW 12 72,945,318 (GRCm39) splice site probably benign
R1387:4930447C04Rik UTSW 12 72,962,208 (GRCm39) missense probably benign 0.04
R1424:4930447C04Rik UTSW 12 72,939,669 (GRCm39) nonsense probably null
R1440:4930447C04Rik UTSW 12 72,928,195 (GRCm39) missense possibly damaging 0.85
R1538:4930447C04Rik UTSW 12 72,928,120 (GRCm39) missense possibly damaging 0.92
R1694:4930447C04Rik UTSW 12 72,931,992 (GRCm39) splice site probably null
R1888:4930447C04Rik UTSW 12 72,960,030 (GRCm39) missense unknown
R1888:4930447C04Rik UTSW 12 72,960,030 (GRCm39) missense unknown
R2151:4930447C04Rik UTSW 12 72,954,725 (GRCm39) splice site probably null
R4930:4930447C04Rik UTSW 12 72,953,008 (GRCm39) missense possibly damaging 0.71
R5243:4930447C04Rik UTSW 12 72,956,543 (GRCm39) critical splice donor site probably null
R6312:4930447C04Rik UTSW 12 72,936,541 (GRCm39) missense possibly damaging 0.86
R6825:4930447C04Rik UTSW 12 72,954,654 (GRCm39) missense probably benign 0.32
R7275:4930447C04Rik UTSW 12 72,956,795 (GRCm39) missense possibly damaging 0.71
R8427:4930447C04Rik UTSW 12 72,950,060 (GRCm39) missense possibly damaging 0.86
R8669:4930447C04Rik UTSW 12 72,949,234 (GRCm39) missense probably benign 0.32
R8674:4930447C04Rik UTSW 12 72,956,696 (GRCm39) missense probably benign 0.00
R9065:4930447C04Rik UTSW 12 72,939,604 (GRCm39) missense possibly damaging 0.86
R9801:4930447C04Rik UTSW 12 72,945,540 (GRCm39) missense probably benign 0.12
RF041:4930447C04Rik UTSW 12 72,928,050 (GRCm39) small deletion probably benign
Z1088:4930447C04Rik UTSW 12 72,986,169 (GRCm39) unclassified probably benign
Z1176:4930447C04Rik UTSW 12 72,963,500 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GCCACTTTAAAGCCAGATGAC -3'
(R):5'- GGCATGTACTGAACAACTACAATTG -3'

Sequencing Primer
(F):5'- GCCACTTTAAAGCCAGATGACTATAC -3'
(R):5'- ACTGAACAACTACAATTGAATGAAAC -3'
Posted On 2016-04-27