Incidental Mutation 'R8669:4930447C04Rik'
ID 661064
Institutional Source Beutler Lab
Gene Symbol 4930447C04Rik
Ensembl Gene ENSMUSG00000021098
Gene Name RIKEN cDNA 4930447C04 gene
Synonyms Six6os1, Six6as
MMRRC Submission 068524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R8669 (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 72949234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 305 (S305T)
Ref Sequence ENSEMBL: ENSMUSP00000035376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044000] [ENSMUST00000110489] [ENSMUST00000131033]
AlphaFold Q9CTN5
Predicted Effect probably benign
Transcript: ENSMUST00000044000
AA Change: S305T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098
AA Change: S305T

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: S306T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098
AA Change: S306T

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: 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: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (53/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd42 A G 7: 92,268,881 (GRCm39) V154A possibly damaging Het
Apc2 C T 10: 80,149,491 (GRCm39) T1515I probably damaging Het
Blzf1 T A 1: 164,130,113 (GRCm39) N80Y possibly damaging Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc125 T C 13: 100,832,683 (GRCm39) L420P probably damaging Het
Ccdc162 T C 10: 41,428,352 (GRCm39) T1976A probably benign Het
Cdc20b C T 13: 113,208,460 (GRCm39) P219S possibly damaging Het
Cep89 A G 7: 35,128,602 (GRCm39) D585G probably benign Het
Crnn A T 3: 93,056,296 (GRCm39) R361* probably null Het
Defb5 A G 8: 19,300,761 (GRCm39) I38V probably benign Het
Defb8 A G 8: 19,495,973 (GRCm39) V29A probably benign Het
Dgkh A G 14: 78,962,459 (GRCm39) V24A probably benign Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dnah12 A T 14: 26,552,582 (GRCm39) probably benign Het
Dsg2 A G 18: 20,723,132 (GRCm39) N386S probably damaging Het
Dyrk1a G T 16: 94,464,650 (GRCm39) R77L probably damaging Het
Fbxw19 G T 9: 109,313,482 (GRCm39) L239I probably benign Het
Gal3st2b A T 1: 93,868,764 (GRCm39) I332L possibly damaging Het
Gcnt1 T G 19: 17,307,143 (GRCm39) K194T probably benign Het
Gm7298 T C 6: 121,742,002 (GRCm39) W475R probably benign Het
Gpatch1 C A 7: 34,991,204 (GRCm39) W613C probably damaging Het
Gulp1 T A 1: 44,805,270 (GRCm39) S120T probably benign Het
Ift122 C A 6: 115,900,252 (GRCm39) Q946K probably damaging Het
Itpr1 T A 6: 108,370,928 (GRCm39) L1065H probably damaging Het
Kcnq5 T C 1: 21,476,050 (GRCm39) D579G probably damaging Het
Klhl40 T A 9: 121,607,088 (GRCm39) S83T probably benign Het
Krt19 T C 11: 100,031,993 (GRCm39) K320E probably damaging Het
Krt87 C A 15: 101,385,777 (GRCm39) V273L probably benign Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lrp1b A G 2: 41,172,047 (GRCm39) probably null Het
Lrrk1 G A 7: 65,912,344 (GRCm39) L1739F probably benign Het
Mthfr A G 4: 148,135,934 (GRCm39) N336D probably benign Het
Myo6 T G 9: 80,173,531 (GRCm39) L557R unknown Het
Naip2 T C 13: 100,325,477 (GRCm39) S144G probably benign Het
Nfatc1 T C 18: 80,725,406 (GRCm39) K453E probably damaging Het
Or52ab7 A T 7: 102,978,281 (GRCm39) D196V probably benign Het
Osm A T 11: 4,189,665 (GRCm39) I150L probably benign Het
Phtf1 T A 3: 103,910,792 (GRCm39) N639K probably benign Het
Prpf40b T A 15: 99,201,228 (GRCm39) M1K probably null Het
Rhbdl3 G A 11: 80,244,339 (GRCm39) V349M probably damaging Het
Senp7 T C 16: 55,986,315 (GRCm39) S582P probably damaging Het
Slc16a14 A G 1: 84,900,605 (GRCm39) S127P probably benign Het
Slc22a21 C T 11: 53,870,643 (GRCm39) W14* probably null Het
Slc6a18 T A 13: 73,812,430 (GRCm39) E553D probably benign Het
Speer4a1 T G 5: 26,243,236 (GRCm39) N83T probably damaging Het
Svep1 T A 4: 58,070,119 (GRCm39) S2556C possibly damaging Het
Tc2n T C 12: 101,660,851 (GRCm39) N127S probably damaging Het
Tcstv7b C A 13: 120,702,338 (GRCm39) P45T probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Thra T C 11: 98,654,476 (GRCm39) V282A possibly damaging Het
Tmem161b A T 13: 84,420,288 (GRCm39) probably null Het
Tmem218 C T 9: 37,133,815 (GRCm39) A85V probably benign Het
Txnip T C 3: 96,466,252 (GRCm39) Y100H probably damaging Het
Unc5c A G 3: 141,509,704 (GRCm39) D728G possibly damaging Het
Zfp462 T A 4: 55,051,313 (GRCm39) I2262K probably damaging Het
Zfp804a A T 2: 82,088,106 (GRCm39) D645V 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
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
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'- TAGACTCTGAGGTAATAGTAGTGGC -3'
(R):5'- AGTAGTTTGTCACTTGGCCATCTTG -3'

Sequencing Primer
(F):5'- GTTGTGTCCTACCTACATG -3'
(R):5'- CTTGCCATTTCACATTCATGATATG -3'
Posted On 2021-03-08