Incidental Mutation 'R6825:4930447C04Rik'
ID 534121
Institutional Source Beutler Lab
Gene Symbol 4930447C04Rik
Ensembl Gene ENSMUSG00000021098
Gene Name RIKEN cDNA 4930447C04 gene
Synonyms Six6os1, Six6as
MMRRC Submission 044937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R6825 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 72926967-72964742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72954654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 206 (S206T)
Ref Sequence ENSEMBL: ENSMUSP00000106115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044000] [ENSMUST00000110489] [ENSMUST00000131033] [ENSMUST00000136075]
AlphaFold Q9CTN5
Predicted Effect probably benign
Transcript: ENSMUST00000044000
AA Change: S206T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098
AA Change: S206T

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
AA Change: S206T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098
AA Change: S206T

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

DomainStartEndE-ValueType
low complexity region 137 147 N/A INTRINSIC
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,036,696 (GRCm39) probably null Het
Adam10 G T 9: 70,668,884 (GRCm39) C400F probably damaging Het
Ankle2 A T 5: 110,398,635 (GRCm39) R561S probably null Het
Arhgef5 C T 6: 43,251,895 (GRCm39) T882I probably damaging Het
Arpc1a A T 5: 145,032,936 (GRCm39) K82* probably null Het
Card11 C A 5: 140,863,837 (GRCm39) R967L probably benign Het
Ccdc82 G T 9: 13,251,601 (GRCm39) probably benign Het
Cebpz T C 17: 79,227,392 (GRCm39) D1026G probably damaging Het
Cit A T 5: 116,119,833 (GRCm39) Q1321L probably damaging Het
Clcn2 C A 16: 20,528,408 (GRCm39) probably benign Het
Csf3 G C 11: 98,593,273 (GRCm39) G130A probably damaging Het
Cul2 T A 18: 3,434,946 (GRCm39) S737T probably damaging Het
Cyp1a2 G A 9: 57,584,543 (GRCm39) H504Y probably benign Het
Cyp3a44 G A 5: 145,716,396 (GRCm39) P398L probably damaging Het
Dnah8 T C 17: 30,960,147 (GRCm39) I2206T probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Epb41l5 A T 1: 119,547,931 (GRCm39) D157E possibly damaging Het
Ercc8 T C 13: 108,295,343 (GRCm39) S6P probably damaging Het
Faxc T C 4: 21,931,672 (GRCm39) S37P probably benign Het
Fbxl19 T A 7: 127,349,187 (GRCm39) I119K probably damaging Het
Frmd4b A G 6: 97,302,437 (GRCm39) V195A possibly damaging Het
Fut9 A T 4: 25,619,925 (GRCm39) S296R probably benign Het
Gas6 T C 8: 13,533,674 (GRCm39) N112D probably benign Het
H2-Q1 T C 17: 35,540,028 (GRCm39) L99P probably damaging Het
Helq A T 5: 100,940,561 (GRCm39) I346N probably damaging Het
Hepacam A G 9: 37,278,976 (GRCm39) K2E possibly damaging Het
Itgae T C 11: 73,009,322 (GRCm39) M502T possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Macf1 A T 4: 123,277,015 (GRCm39) probably null Het
Mgat4a T A 1: 37,503,515 (GRCm39) K220* probably null Het
Or2t43 T C 11: 58,457,476 (GRCm39) R232G possibly damaging Het
Or4c104 T C 2: 88,586,255 (GRCm39) I255V possibly damaging Het
Or5b3 G A 19: 13,388,514 (GRCm39) V194I probably benign Het
Pex5 A T 6: 124,391,340 (GRCm39) M18K probably damaging Het
Phlda3 T C 1: 135,694,562 (GRCm39) *126Q probably null Het
Plxna1 G T 6: 89,297,597 (GRCm39) D1862E probably benign Het
Pold4 A T 19: 4,282,164 (GRCm39) I7F possibly damaging Het
Prkaa1 A T 15: 5,173,432 (GRCm39) I19F possibly damaging Het
Prl7d1 T G 13: 27,894,125 (GRCm39) E148A probably benign Het
Prr14l A T 5: 32,985,892 (GRCm39) V1201E possibly damaging Het
Rab3gap1 T C 1: 127,858,158 (GRCm39) C510R probably damaging Het
Rhbdf1 C T 11: 32,159,970 (GRCm39) R802H probably damaging Het
Rpl18a A C 8: 71,348,836 (GRCm39) F47V probably damaging Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Sspo G A 6: 48,442,459 (GRCm39) G1985R probably benign Het
Tcaf2 C T 6: 42,606,452 (GRCm39) A501T probably benign Het
Tcerg1 A G 18: 42,681,542 (GRCm39) D563G probably damaging Het
Tdh G A 14: 63,733,281 (GRCm39) T155M probably damaging Het
Tenm2 T C 11: 35,937,711 (GRCm39) N1654S probably benign Het
Tlr5 A T 1: 182,800,609 (GRCm39) probably benign Het
Tns1 G T 1: 74,041,482 (GRCm39) C136* probably null Het
Tomm5 A T 4: 45,106,443 (GRCm39) probably null Het
Trio A T 15: 27,889,394 (GRCm39) F512I probably damaging Het
Ttll5 A T 12: 85,930,102 (GRCm39) probably null Het
Upp1 T A 11: 9,081,707 (GRCm39) H81Q probably benign Het
Usp42 A G 5: 143,713,562 (GRCm39) S71P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Zap70 A G 1: 36,817,471 (GRCm39) Y238C probably damaging Het
Zfp398 A G 6: 47,843,265 (GRCm39) D307G probably damaging 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
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
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'- GAAATACATTTGTCTTCACTGAGGC -3'
(R):5'- CCAAATGACAGGATGAACTTGC -3'

Sequencing Primer
(F):5'- ACGATATGGTGGCTCATAACC -3'
(R):5'- CAGGATGAACTTGCATAGAAAAACTC -3'
Posted On 2018-09-12