Incidental Mutation 'R2338:4930474N05Rik'
ID 246645
Institutional Source Beutler Lab
Gene Symbol 4930474N05Rik
Ensembl Gene ENSMUSG00000096405
Gene Name RIKEN cDNA 4930474N05 gene
Synonyms
MMRRC Submission 040324-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2338 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 35816899-35819358 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35817109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000153709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177985] [ENSMUST00000186722] [ENSMUST00000226305]
AlphaFold Q8BVR5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100708
SMART Domains Protein: ENSMUSP00000098274
Gene: ENSMUSG00000072616

DomainStartEndE-ValueType
RasGEFN 7 128 4.76e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177985
SMART Domains Protein: ENSMUSP00000136756
Gene: ENSMUSG00000096405

DomainStartEndE-ValueType
RasGEFN 65 184 3.19e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186722
Predicted Effect probably benign
Transcript: ENSMUST00000226305
AA Change: D53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,909,945 (GRCm39) P330S probably benign Het
Acta2 A G 19: 34,225,941 (GRCm39) probably benign Het
Actrt3 A G 3: 30,651,985 (GRCm39) *370R probably null Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Btbd8 T C 5: 107,658,440 (GRCm39) L1158S probably damaging Het
Cadps2 C G 6: 23,838,977 (GRCm39) probably benign Het
Camsap3 C T 8: 3,656,808 (GRCm39) R1048C probably damaging Het
Cdkl2 C T 5: 92,181,538 (GRCm39) A148T possibly damaging Het
Dab2 T A 15: 6,464,733 (GRCm39) I395K possibly damaging Het
Dclk2 A G 3: 86,706,324 (GRCm39) F589S probably damaging Het
Ddx60 T C 8: 62,465,470 (GRCm39) S1376P possibly damaging Het
Eprs1 T C 1: 185,148,005 (GRCm39) F1256L probably damaging Het
Etaa1 A T 11: 17,895,605 (GRCm39) probably null Het
Fat2 T C 11: 55,202,727 (GRCm39) T116A possibly damaging Het
Fem1al C A 11: 29,773,718 (GRCm39) A580S probably benign Het
Fmnl3 T C 15: 99,268,108 (GRCm39) T26A probably benign Het
Foxp1 A G 6: 98,980,254 (GRCm39) V158A possibly damaging Het
G6pd2 T A 5: 61,967,351 (GRCm39) D375E probably benign Het
Gne C T 4: 44,042,196 (GRCm39) A460T probably damaging Het
Gprin1 T A 13: 54,886,238 (GRCm39) probably null Het
Hecw2 T C 1: 53,943,581 (GRCm39) M949V possibly damaging Het
Herc1 G A 9: 66,336,251 (GRCm39) V1599M possibly damaging Het
Hk2 A C 6: 82,708,096 (GRCm39) N628K probably damaging Het
Hmcn1 T C 1: 150,498,685 (GRCm39) T4065A possibly damaging Het
Ipo8 T A 6: 148,691,321 (GRCm39) Q683L probably benign Het
Krt81 A G 15: 101,361,217 (GRCm39) I121T probably benign Het
Lamb2 T C 9: 108,359,340 (GRCm39) L322P probably benign Het
Lilrb4a A G 10: 51,367,796 (GRCm39) M113V probably benign Het
Mnat1 G A 12: 73,265,917 (GRCm39) probably null Het
Mucl1 T A 15: 103,783,964 (GRCm39) T68S possibly damaging Het
Npnt G T 3: 132,597,170 (GRCm39) D461E probably damaging Het
Nrp1 A T 8: 129,224,385 (GRCm39) Q716L probably benign Het
Or11g25 A G 14: 50,723,097 (GRCm39) T61A possibly damaging Het
Or12k5 T G 2: 36,895,159 (GRCm39) S156R probably damaging Het
Or51b6b A T 7: 103,309,617 (GRCm39) I280N possibly damaging Het
Podxl2 T C 6: 88,826,178 (GRCm39) Q376R probably damaging Het
Pudp T C 18: 50,701,646 (GRCm39) D29G probably benign Het
Rrs1 C A 1: 9,616,026 (GRCm39) probably null Het
S1pr3 T C 13: 51,573,614 (GRCm39) I265T possibly damaging Het
Scgb1b2 A T 7: 30,991,038 (GRCm39) C23* probably null Het
Spag8 G T 4: 43,652,826 (GRCm39) R212S probably benign Het
Tacc2 A G 7: 130,335,299 (GRCm39) probably null Het
Trmt1l C T 1: 151,304,710 (GRCm39) probably benign Het
Trpa1 A T 1: 14,954,469 (GRCm39) L810Q probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ugt3a1 T A 15: 9,292,059 (GRCm39) probably benign Het
Vmn2r23 T G 6: 123,681,384 (GRCm39) I97M possibly damaging Het
Vmn2r65 A T 7: 84,590,051 (GRCm39) F622I possibly damaging Het
Vps13a C T 19: 16,697,817 (GRCm39) G766E probably damaging Het
Wnk1 T C 6: 119,946,495 (GRCm39) T553A probably benign Het
Xirp2 T A 2: 67,341,114 (GRCm39) D1118E probably damaging Het
Zfyve9 A C 4: 108,517,811 (GRCm39) D461E probably damaging Het
Other mutations in 4930474N05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:4930474N05Rik APN 14 35,818,379 (GRCm39) missense possibly damaging 0.54
IGL01694:4930474N05Rik APN 14 35,818,659 (GRCm39) makesense probably null
IGL02821:4930474N05Rik APN 14 35,818,473 (GRCm39) missense probably benign 0.19
R0071:4930474N05Rik UTSW 14 35,812,746 (GRCm39) unclassified probably benign
R0537:4930474N05Rik UTSW 14 35,818,657 (GRCm39) missense probably benign 0.07
R0960:4930474N05Rik UTSW 14 35,818,367 (GRCm39) missense probably benign 0.01
R1919:4930474N05Rik UTSW 14 35,817,414 (GRCm39) missense possibly damaging 0.48
R3837:4930474N05Rik UTSW 14 35,817,435 (GRCm39) missense probably benign 0.03
R4192:4930474N05Rik UTSW 14 35,818,536 (GRCm39) missense possibly damaging 0.94
R4193:4930474N05Rik UTSW 14 35,818,536 (GRCm39) missense possibly damaging 0.94
R4526:4930474N05Rik UTSW 14 35,818,535 (GRCm39) missense probably damaging 1.00
R7007:4930474N05Rik UTSW 14 35,817,121 (GRCm39) missense probably benign 0.18
R7302:4930474N05Rik UTSW 14 35,817,306 (GRCm39) missense probably benign 0.00
R7998:4930474N05Rik UTSW 14 35,818,649 (GRCm39) missense probably benign 0.22
R8202:4930474N05Rik UTSW 14 35,817,057 (GRCm39) missense probably benign 0.01
R8714:4930474N05Rik UTSW 14 35,818,456 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCCCACAGACTCACTTTTCAG -3'
(R):5'- TGATGGGAGACTCTCTACGTGG -3'

Sequencing Primer
(F):5'- CTCACTTTTCAGAGACACTAGAGAGG -3'
(R):5'- ACGTGGCTCCCTCAGATC -3'
Posted On 2014-10-30