Incidental Mutation 'R6007:4930407I10Rik'
ID 479555
Institutional Source Beutler Lab
Gene Symbol 4930407I10Rik
Ensembl Gene ENSMUSG00000075524
Gene Name RIKEN cDNA 4930407I10 gene
Synonyms LOC328573
MMRRC Submission 044184-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6007 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81943352-81950739 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 81946940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 279 (T279S)
Ref Sequence ENSEMBL: ENSMUSP00000097965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100396]
AlphaFold D3Z5T8
Predicted Effect probably benign
Transcript: ENSMUST00000100396
AA Change: T279S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: T279S

DomainStartEndE-ValueType
Pfam:DUF4727 25 234 1.1e-109 PFAM
internal_repeat_1 321 406 9.89e-8 PROSPERO
low complexity region 453 465 N/A INTRINSIC
internal_repeat_2 593 707 6.03e-6 PROSPERO
low complexity region 735 752 N/A INTRINSIC
low complexity region 758 773 N/A INTRINSIC
internal_repeat_2 842 958 6.03e-6 PROSPERO
internal_repeat_1 876 962 9.89e-8 PROSPERO
low complexity region 985 996 N/A INTRINSIC
low complexity region 1117 1133 N/A INTRINSIC
low complexity region 1143 1156 N/A INTRINSIC
low complexity region 1199 1208 N/A INTRINSIC
low complexity region 1259 1270 N/A INTRINSIC
low complexity region 1282 1296 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.6%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik G T 6: 83,137,900 (GRCm39) A9S possibly damaging Het
A830018L16Rik A G 1: 11,582,140 (GRCm39) probably null Het
Abcg5 T G 17: 84,976,392 (GRCm39) I482L probably benign Het
Adgrf5 T A 17: 43,748,462 (GRCm39) D44E probably damaging Het
Amh A G 10: 80,641,305 (GRCm39) N75S probably benign Het
Arl8a T C 1: 135,080,606 (GRCm39) probably null Het
Bpifb4 T C 2: 153,784,480 (GRCm39) Y63H possibly damaging Het
Chd5 A T 4: 152,463,878 (GRCm39) E1449V probably null Het
Chml A G 1: 175,515,594 (GRCm39) V109A probably benign Het
Crybg3 G T 16: 59,374,837 (GRCm39) S2139* probably null Het
Cyp2c68 T C 19: 39,722,780 (GRCm39) D256G probably damaging Het
Dchs2 G T 3: 83,253,534 (GRCm39) V2315L probably damaging Het
Ddx20 T C 3: 105,590,736 (GRCm39) I227V possibly damaging Het
Drg2 T C 11: 60,353,451 (GRCm39) V266A possibly damaging Het
Flcn C A 11: 59,683,448 (GRCm39) E576D probably benign Het
Fstl5 T A 3: 76,317,899 (GRCm39) D188E probably damaging Het
Gm14496 A G 2: 181,639,323 (GRCm39) Q471R probably benign Het
Gm43772 T C 5: 66,332,334 (GRCm39) probably benign Het
Gpc6 C T 14: 118,188,673 (GRCm39) H436Y probably damaging Het
Gpr179 A T 11: 97,226,628 (GRCm39) C1842* probably null Het
Ints8 G A 4: 11,208,845 (GRCm39) T934I possibly damaging Het
Iqsec1 G T 6: 90,637,969 (GRCm39) C1050* probably null Het
Larp4b T C 13: 9,218,793 (GRCm39) V510A probably benign Het
Map3k13 A T 16: 21,723,933 (GRCm39) D305V possibly damaging Het
Mc5r A T 18: 68,472,318 (GRCm39) I226F possibly damaging Het
Mme G A 3: 63,250,929 (GRCm39) W323* probably null Het
Mrpl24 A G 3: 87,829,705 (GRCm39) Y97C probably benign Het
Mslnl G A 17: 25,965,749 (GRCm39) S541N probably benign Het
Npepl1 T C 2: 173,962,850 (GRCm39) V412A probably benign Het
Nrg3 T A 14: 39,194,409 (GRCm39) K117* probably null Het
Or11j4 G T 14: 50,630,948 (GRCm39) C245F probably damaging Het
Or4f52 T C 2: 111,061,275 (GRCm39) T288A probably benign Het
Orc2 A T 1: 58,506,851 (GRCm39) M447K probably benign Het
Phf3 A T 1: 30,843,426 (GRCm39) H1844Q probably damaging Het
Plxnc1 T C 10: 94,629,152 (GRCm39) I1541V possibly damaging Het
Rapgef4 T C 2: 72,010,293 (GRCm39) Y284H possibly damaging Het
Rnf180 C A 13: 105,317,957 (GRCm39) probably null Het
Secisbp2 T C 13: 51,819,395 (GRCm39) I325T probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Slc4a10 A G 2: 62,099,216 (GRCm39) M625V probably benign Het
Synpo T A 18: 60,736,687 (GRCm39) M420L probably benign Het
Tmem116 A C 5: 121,655,955 (GRCm39) *147C probably null Het
Top2b G A 14: 16,423,779 (GRCm38) probably null Het
Trp53bp2 T A 1: 182,283,305 (GRCm39) C1014S probably damaging Het
Unc5b A G 10: 60,601,139 (GRCm39) F896L probably damaging Het
Vil1 T C 1: 74,459,026 (GRCm39) W177R probably damaging Het
Vmn2r107 A T 17: 20,595,316 (GRCm39) Y623F probably benign Het
Vmn2r86 T C 10: 130,289,535 (GRCm39) Y120C probably damaging Het
Wdr18 A G 10: 79,801,177 (GRCm39) T197A possibly damaging Het
Ylpm1 A G 12: 85,076,064 (GRCm39) M472V probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp677 A G 17: 21,617,918 (GRCm39) Y325C probably damaging Het
Zfyve1 A G 12: 83,605,478 (GRCm39) F407S probably damaging Het
Other mutations in 4930407I10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:4930407I10Rik APN 15 81,950,581 (GRCm39) missense probably benign 0.00
IGL02135:4930407I10Rik APN 15 81,949,205 (GRCm39) missense possibly damaging 0.63
IGL02367:4930407I10Rik APN 15 81,949,748 (GRCm39) missense probably benign 0.00
IGL02626:4930407I10Rik APN 15 81,949,810 (GRCm39) missense probably damaging 0.99
IGL02885:4930407I10Rik APN 15 81,948,152 (GRCm39) missense probably benign 0.36
IGL03199:4930407I10Rik APN 15 81,946,556 (GRCm39) missense possibly damaging 0.65
R0062:4930407I10Rik UTSW 15 81,950,504 (GRCm39) missense probably damaging 0.98
R0062:4930407I10Rik UTSW 15 81,947,267 (GRCm39) missense probably benign 0.00
R0086:4930407I10Rik UTSW 15 81,946,802 (GRCm39) missense probably benign 0.11
R0578:4930407I10Rik UTSW 15 81,943,556 (GRCm39) missense possibly damaging 0.49
R1130:4930407I10Rik UTSW 15 81,943,561 (GRCm39) missense probably benign
R1218:4930407I10Rik UTSW 15 81,948,353 (GRCm39) missense probably benign 0.04
R1942:4930407I10Rik UTSW 15 81,949,625 (GRCm39) missense probably damaging 0.98
R2380:4930407I10Rik UTSW 15 81,949,036 (GRCm39) missense possibly damaging 0.92
R3945:4930407I10Rik UTSW 15 81,949,601 (GRCm39) missense probably damaging 1.00
R4096:4930407I10Rik UTSW 15 81,946,406 (GRCm39) missense probably benign 0.07
R4259:4930407I10Rik UTSW 15 81,947,927 (GRCm39) missense possibly damaging 0.89
R4261:4930407I10Rik UTSW 15 81,947,927 (GRCm39) missense possibly damaging 0.89
R4805:4930407I10Rik UTSW 15 81,950,628 (GRCm39) nonsense probably null
R4992:4930407I10Rik UTSW 15 81,948,203 (GRCm39) missense possibly damaging 0.60
R5094:4930407I10Rik UTSW 15 81,946,883 (GRCm39) missense possibly damaging 0.72
R5161:4930407I10Rik UTSW 15 81,947,542 (GRCm39) nonsense probably null
R5201:4930407I10Rik UTSW 15 81,946,745 (GRCm39) missense probably benign 0.26
R5305:4930407I10Rik UTSW 15 81,943,420 (GRCm39) missense possibly damaging 0.52
R5588:4930407I10Rik UTSW 15 81,949,417 (GRCm39) missense possibly damaging 0.83
R5844:4930407I10Rik UTSW 15 81,950,065 (GRCm39) missense probably benign 0.33
R6157:4930407I10Rik UTSW 15 81,947,617 (GRCm39) missense possibly damaging 0.67
R6188:4930407I10Rik UTSW 15 81,943,471 (GRCm39) missense probably benign 0.01
R6350:4930407I10Rik UTSW 15 81,947,764 (GRCm39) missense possibly damaging 0.55
R6408:4930407I10Rik UTSW 15 81,949,307 (GRCm39) missense possibly damaging 0.77
R6805:4930407I10Rik UTSW 15 81,946,744 (GRCm39) missense possibly damaging 0.95
R6911:4930407I10Rik UTSW 15 81,948,068 (GRCm39) missense probably benign 0.01
R6962:4930407I10Rik UTSW 15 81,949,150 (GRCm39) missense probably benign 0.14
R7446:4930407I10Rik UTSW 15 81,950,441 (GRCm39) missense probably benign
R7492:4930407I10Rik UTSW 15 81,948,560 (GRCm39) missense possibly damaging 0.63
R7699:4930407I10Rik UTSW 15 81,948,306 (GRCm39) missense probably benign 0.04
R7700:4930407I10Rik UTSW 15 81,948,306 (GRCm39) missense probably benign 0.04
R7963:4930407I10Rik UTSW 15 81,948,137 (GRCm39) missense possibly damaging 0.79
R8215:4930407I10Rik UTSW 15 81,949,301 (GRCm39) missense probably benign 0.01
R8257:4930407I10Rik UTSW 15 81,950,153 (GRCm39) missense probably benign 0.22
R8311:4930407I10Rik UTSW 15 81,947,440 (GRCm39) missense possibly damaging 0.77
R8436:4930407I10Rik UTSW 15 81,949,936 (GRCm39) missense possibly damaging 0.48
R8530:4930407I10Rik UTSW 15 81,949,587 (GRCm39) missense probably damaging 0.99
R8531:4930407I10Rik UTSW 15 81,950,622 (GRCm39) missense probably benign 0.02
R8886:4930407I10Rik UTSW 15 81,950,051 (GRCm39) missense probably damaging 0.99
R9109:4930407I10Rik UTSW 15 81,947,615 (GRCm39) missense probably benign 0.00
R9298:4930407I10Rik UTSW 15 81,947,615 (GRCm39) missense probably benign 0.00
R9424:4930407I10Rik UTSW 15 81,947,843 (GRCm39) missense probably benign 0.00
R9576:4930407I10Rik UTSW 15 81,947,843 (GRCm39) missense probably benign 0.00
R9654:4930407I10Rik UTSW 15 81,948,916 (GRCm39) missense possibly damaging 0.95
R9696:4930407I10Rik UTSW 15 81,949,697 (GRCm39) missense probably benign
R9710:4930407I10Rik UTSW 15 81,946,852 (GRCm39) missense probably benign
RF004:4930407I10Rik UTSW 15 81,943,550 (GRCm39) missense possibly damaging 0.82
X0011:4930407I10Rik UTSW 15 81,943,486 (GRCm39) missense probably damaging 1.00
X0026:4930407I10Rik UTSW 15 81,947,512 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCCTGTTAGCCTGAGGTAC -3'
(R):5'- TCCCACTCTGACACTGAGATC -3'

Sequencing Primer
(F):5'- GGTACACCTCCACAACTTTAGC -3'
(R):5'- ACTGAGATCTCGCCATCAGTG -3'
Posted On 2017-06-26