Incidental Mutation 'R5229:4930444P10Rik'
ID 403633
Institutional Source Beutler Lab
Gene Symbol 4930444P10Rik
Ensembl Gene ENSMUSG00000067795
Gene Name RIKEN cDNA 4930444P10 gene
Synonyms
MMRRC Submission 042802-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5229 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 16136203-16163549 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 16151183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115367] [ENSMUST00000145070] [ENSMUST00000151004]
AlphaFold D3YUR1
Predicted Effect unknown
Transcript: ENSMUST00000115367
AA Change: K31E
SMART Domains Protein: ENSMUSP00000111024
Gene: ENSMUSG00000067795
AA Change: K31E

DomainStartEndE-ValueType
low complexity region 93 100 N/A INTRINSIC
low complexity region 172 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145070
SMART Domains Protein: ENSMUSP00000137853
Gene: ENSMUSG00000067795

DomainStartEndE-ValueType
low complexity region 62 69 N/A INTRINSIC
low complexity region 141 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151004
SMART Domains Protein: ENSMUSP00000119257
Gene: ENSMUSG00000067795

DomainStartEndE-ValueType
low complexity region 62 69 N/A INTRINSIC
low complexity region 141 153 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,915 (GRCm39) I435M possibly damaging Het
Adcy5 A G 16: 35,089,440 (GRCm39) I546V probably damaging Het
Apob A G 12: 8,027,806 (GRCm39) T10A probably benign Het
Brwd1 C A 16: 95,803,409 (GRCm39) D2254Y possibly damaging Het
Bub1b C A 2: 118,460,470 (GRCm39) D600E probably damaging Het
Cnga1 A G 5: 72,766,843 (GRCm39) S199P probably damaging Het
Cyp3a11 G T 5: 145,791,945 (GRCm39) L483I probably benign Het
Depp1 T C 6: 116,628,992 (GRCm39) S112P possibly damaging Het
Dpysl3 C A 18: 43,466,016 (GRCm39) G457V probably damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Epb41 C A 4: 131,706,246 (GRCm39) G415C probably damaging Het
Erap1 G A 13: 74,808,494 (GRCm39) V69M possibly damaging Het
F2 A T 2: 91,460,586 (GRCm39) Y301* probably null Het
F2rl2 A T 13: 95,837,195 (GRCm39) N80I possibly damaging Het
Fam237b A T 5: 5,625,565 (GRCm39) Y87F possibly damaging Het
Gm15446 T G 5: 110,091,036 (GRCm39) H429Q probably damaging Het
Gpat3 G A 5: 101,031,290 (GRCm39) G148D probably damaging Het
Gpr26 A T 7: 131,585,976 (GRCm39) R315S probably damaging Het
Hdac9 A C 12: 34,487,163 (GRCm39) H100Q probably damaging Het
Heatr5a A T 12: 51,994,761 (GRCm39) V457D probably benign Het
Igkv10-96 A G 6: 68,609,223 (GRCm39) M24T possibly damaging Het
Igkv2-95-2 A G 6: 68,625,095 (GRCm39) noncoding transcript Het
Kdm4a G A 4: 118,003,802 (GRCm39) S758F probably damaging Het
Lrg1 A G 17: 56,427,154 (GRCm39) W273R probably damaging Het
Man2a1 A T 17: 65,017,729 (GRCm39) Q658H probably benign Het
Mapkapk5 T C 5: 121,671,454 (GRCm39) probably null Het
Mcm6 T C 1: 128,261,321 (GRCm39) D761G possibly damaging Het
Myh8 A T 11: 67,175,310 (GRCm39) Y286F probably damaging Het
Nbn C T 4: 15,963,893 (GRCm39) T98I probably damaging Het
Nrdc T C 4: 108,906,305 (GRCm39) S685P probably damaging Het
Nudcd3 A G 11: 6,143,238 (GRCm39) V80A probably benign Het
Or10al5 A G 17: 38,063,192 (GRCm39) H149R probably benign Het
Or5p54 A G 7: 107,554,376 (GRCm39) H176R probably damaging Het
Pdcd6ip A T 9: 113,507,401 (GRCm39) M390K probably damaging Het
Pon1 C T 6: 5,177,295 (GRCm39) V205I possibly damaging Het
Ppp4r2 C A 6: 100,842,176 (GRCm39) H212Q probably benign Het
Pramel32 T C 4: 88,548,372 (GRCm39) D11G possibly damaging Het
Prl2c5 G A 13: 13,360,441 (GRCm39) C33Y probably damaging Het
Rbak A G 5: 143,159,917 (GRCm39) F379L probably damaging Het
Rcc2 G A 4: 140,444,340 (GRCm39) D344N probably damaging Het
Rgs3 T C 4: 62,620,424 (GRCm39) L550P probably damaging Het
Rnasek A T 11: 70,130,486 (GRCm39) M25K probably damaging Het
Scgb1b24 A T 7: 33,443,520 (GRCm39) T60S possibly damaging Het
Scn5a A G 9: 119,365,042 (GRCm39) F392S probably damaging Het
Scpep1 A T 11: 88,827,871 (GRCm39) V209E probably damaging Het
Slc35g1 A G 19: 38,391,080 (GRCm39) probably null Het
Sorbs1 A G 19: 40,329,151 (GRCm39) I554T probably damaging Het
Spats1 A G 17: 45,777,059 (GRCm39) probably benign Het
Tdp1 A G 12: 99,859,919 (GRCm39) Q202R probably damaging Het
Trav6-5 T G 14: 53,729,045 (GRCm39) S102A probably damaging Het
Tspan2 T C 3: 102,676,215 (GRCm39) M208T probably damaging Het
Ube4b A G 4: 149,471,635 (GRCm39) S84P probably damaging Het
Vmn1r237 C A 17: 21,534,633 (GRCm39) Q119K probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Zfp65 A T 13: 67,856,929 (GRCm39) S117T probably benign Het
Other mutations in 4930444P10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:4930444P10Rik APN 1 16,148,870 (GRCm39) nonsense probably null
R1777:4930444P10Rik UTSW 1 16,148,813 (GRCm39) missense possibly damaging 0.77
R4992:4930444P10Rik UTSW 1 16,151,101 (GRCm39) missense probably damaging 0.98
R4999:4930444P10Rik UTSW 1 16,139,022 (GRCm39) critical splice donor site probably null
R8870:4930444P10Rik UTSW 1 16,136,451 (GRCm39) nonsense probably null
R8966:4930444P10Rik UTSW 1 16,151,062 (GRCm39) missense possibly damaging 0.66
R9617:4930444P10Rik UTSW 1 16,139,051 (GRCm39) missense probably benign 0.06
Z1177:4930444P10Rik UTSW 1 16,152,246 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ATGCACGGCACTTATGTTCC -3'
(R):5'- AAGCACTTAAGGGGTTGTGTTC -3'

Sequencing Primer
(F):5'- GGCACTTATGTTCCTCCAAAAG -3'
(R):5'- CTGGTCTACATAGTAAGTCCCAGG -3'
Posted On 2016-07-22