Incidental Mutation 'R0102:4930402F06Rik'
ID 63273
Institutional Source Beutler Lab
Gene Symbol 4930402F06Rik
Ensembl Gene ENSMUSG00000079421
Gene Name RIKEN cDNA 4930402F06 gene
Synonyms
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0102 (G1)
Quality Score 159
Status Validated
Chromosome 2
Chromosomal Location 35265574-35287187 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 35265795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 292 (R292*)
Ref Sequence ENSEMBL: ENSMUSP00000108633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113009] [ENSMUST00000113010]
AlphaFold A2AUQ8
Predicted Effect probably null
Transcript: ENSMUST00000113009
AA Change: R261*
SMART Domains Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: R261*

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 4 299 4.7e-130 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113010
AA Change: R292*
SMART Domains Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: R292*

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Glyco_transf_6 37 330 1.2e-124 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 91.8%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Col1a2 T A 6: 4,520,775 (GRCm39) S371T possibly damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gad1 G A 2: 70,417,583 (GRCm39) probably null Het
Golgb1 C A 16: 36,695,830 (GRCm39) probably benign Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lrp1b G A 2: 41,298,997 (GRCm39) probably benign Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Med25 C T 7: 44,534,904 (GRCm39) V80I possibly damaging Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mki67 T C 7: 135,315,532 (GRCm39) R81G probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or11g27 T A 14: 50,771,088 (GRCm39) L73Q probably damaging Het
Or2w6 T C 13: 21,842,905 (GRCm39) D196G probably damaging Het
Or4a77 T C 2: 89,486,999 (GRCm39) N262S probably benign Het
Or4c111 T C 2: 88,844,015 (GRCm39) Y131C probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Or8h10 A T 2: 86,808,549 (GRCm39) I197N possibly damaging Het
Otp T C 13: 95,013,663 (GRCm39) V27A probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Tbc1d9b T C 11: 50,026,676 (GRCm39) V48A probably damaging Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Other mutations in 4930402F06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:4930402F06Rik APN 2 35,265,851 (GRCm39) missense probably benign 0.05
IGL00805:4930402F06Rik APN 2 35,270,422 (GRCm39) missense probably damaging 1.00
IGL01647:4930402F06Rik APN 2 35,266,097 (GRCm39) missense probably damaging 1.00
IGL01927:4930402F06Rik APN 2 35,266,026 (GRCm39) missense probably damaging 1.00
IGL02315:4930402F06Rik APN 2 35,266,185 (GRCm39) missense probably damaging 1.00
IGL02563:4930402F06Rik APN 2 35,270,410 (GRCm39) missense probably damaging 1.00
IGL02655:4930402F06Rik APN 2 35,270,498 (GRCm39) missense possibly damaging 0.70
IGL03341:4930402F06Rik APN 2 35,265,906 (GRCm39) missense possibly damaging 0.76
R0102:4930402F06Rik UTSW 2 35,265,795 (GRCm39) nonsense probably null
R0309:4930402F06Rik UTSW 2 35,266,271 (GRCm39) missense possibly damaging 0.90
R0556:4930402F06Rik UTSW 2 35,280,482 (GRCm39) splice site probably benign
R2089:4930402F06Rik UTSW 2 35,266,079 (GRCm39) missense probably benign 0.00
R2091:4930402F06Rik UTSW 2 35,266,079 (GRCm39) missense probably benign 0.00
R2091:4930402F06Rik UTSW 2 35,266,079 (GRCm39) missense probably benign 0.00
R2158:4930402F06Rik UTSW 2 35,275,680 (GRCm39) missense possibly damaging 0.94
R4027:4930402F06Rik UTSW 2 35,270,408 (GRCm39) missense probably damaging 1.00
R4897:4930402F06Rik UTSW 2 35,266,309 (GRCm39) missense probably damaging 1.00
R7755:4930402F06Rik UTSW 2 35,266,349 (GRCm39) missense probably damaging 1.00
R8129:4930402F06Rik UTSW 2 35,266,187 (GRCm39) missense probably damaging 1.00
R8143:4930402F06Rik UTSW 2 35,265,884 (GRCm39) missense probably damaging 1.00
R8309:4930402F06Rik UTSW 2 35,279,599 (GRCm39) missense possibly damaging 0.67
R8550:4930402F06Rik UTSW 2 35,265,786 (GRCm39) nonsense probably null
X0024:4930402F06Rik UTSW 2 35,279,617 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCATACTCTCTGTGACTGCTATGCC -3'
(R):5'- AAGCCAAGTACGGTCTGGAGACTC -3'

Sequencing Primer
(F):5'- ATGCCCCTTATTACATCATTCAGG -3'
(R):5'- AGCTCAGTTGCACACGTATTG -3'
Posted On 2013-07-30