Incidental Mutation 'IGL02359:4930447C04Rik'
ID 290440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930447C04Rik
Ensembl Gene ENSMUSG00000021098
Gene Name RIKEN cDNA 4930447C04 gene
Synonyms Six6os1, Six6as
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # IGL02359
Quality Score
Status
Chromosome 12
Chromosomal Location 72926967-72964742 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 72941829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044000] [ENSMUST00000044000] [ENSMUST00000110489] [ENSMUST00000110489]
AlphaFold Q9CTN5
Predicted Effect probably null
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 null
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 null
Transcript: ENSMUST00000110489
SMART Domains Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098

DomainStartEndE-ValueType
Pfam:S6OS1 31 575 1.1e-277 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110489
SMART Domains Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098

DomainStartEndE-ValueType
Pfam:S6OS1 31 575 1.1e-277 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132901
Predicted Effect probably benign
Transcript: ENSMUST00000143960
SMART Domains Protein: ENSMUSP00000116391
Gene: ENSMUSG00000021098

DomainStartEndE-ValueType
Pfam:S6OS1 1 70 6.1e-21 PFAM
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,166,156 (GRCm39) N1540I probably benign Het
Adamtsl5 T A 10: 80,179,562 (GRCm39) probably null Het
Aldh2 T C 5: 121,713,960 (GRCm39) E128G probably null Het
Ano3 A T 2: 110,715,288 (GRCm39) L50* probably null Het
Atp13a3 A G 16: 30,169,902 (GRCm39) I392T probably damaging Het
C1qtnf5 A G 9: 44,019,631 (GRCm39) E85G possibly damaging Het
Cacna1s A T 1: 136,020,990 (GRCm39) probably benign Het
Ccdc150 G A 1: 54,311,680 (GRCm39) R222H probably benign Het
Cep55 T A 19: 38,058,316 (GRCm39) I303N probably damaging Het
Cmip A T 8: 118,137,994 (GRCm39) probably benign Het
Cyp21a1 A G 17: 35,023,196 (GRCm39) Y60H probably damaging Het
Cyp2d11 A G 15: 82,278,121 (GRCm39) W10R possibly damaging Het
Dock10 A G 1: 80,483,378 (GRCm39) Y2076H probably damaging Het
Dpcd G T 19: 45,565,493 (GRCm39) A156S probably benign Het
Egflam T C 15: 7,263,706 (GRCm39) N748S probably benign Het
Fam227b A G 2: 125,988,174 (GRCm39) probably benign Het
Fancd2 T A 6: 113,540,073 (GRCm39) I654N probably damaging Het
Hpf1 A G 8: 61,349,836 (GRCm39) I155V probably benign Het
Hrh1 C A 6: 114,457,404 (GRCm39) N228K probably benign Het
Igkv3-2 T C 6: 70,675,474 (GRCm39) L8P probably damaging Het
Iqgap3 T C 3: 88,009,267 (GRCm39) F734L probably benign Het
Kif5a T C 10: 127,079,370 (GRCm39) Y276C probably damaging Het
Lax1 A T 1: 133,608,208 (GRCm39) S178T possibly damaging Het
Marchf6 C T 15: 31,509,905 (GRCm39) C28Y probably damaging Het
Mylk3 T C 8: 86,081,931 (GRCm39) T356A probably benign Het
Or2l13 T C 16: 19,305,927 (GRCm39) L113P probably damaging Het
Pate7 A T 9: 35,689,180 (GRCm39) M1K probably null Het
Pgap2 G T 7: 101,885,346 (GRCm39) V71F probably damaging Het
Prob1 T G 18: 35,785,893 (GRCm39) E787A possibly damaging Het
Psmd2 C A 16: 20,475,691 (GRCm39) D430E probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpinb9e A T 13: 33,441,803 (GRCm39) probably benign Het
Sgsm2 G T 11: 74,782,900 (GRCm39) probably benign Het
Slc38a9 A G 13: 112,826,720 (GRCm39) I153V probably benign Het
Slco1b2 T A 6: 141,631,251 (GRCm39) D628E probably damaging Het
Sult2a5 T C 7: 13,362,727 (GRCm39) S145P probably benign Het
Sv2b T C 7: 74,786,197 (GRCm39) T408A probably benign Het
Usp24 T C 4: 106,261,122 (GRCm39) C1626R probably damaging Het
Wdr43 C T 17: 71,939,043 (GRCm39) T217M possibly damaging Het
Wdr95 G A 5: 149,504,084 (GRCm39) V155M probably damaging Het
Wsb1 G A 11: 79,141,838 (GRCm39) L60F probably damaging Het
Wwp2 C T 8: 108,267,278 (GRCm39) R297* probably null Het
Xkr6 T C 14: 64,057,156 (GRCm39) Y356H unknown 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
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
R4967:4930447C04Rik UTSW 12 72,956,502 (GRCm39) nonsense probably null
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
Posted On 2015-04-16