Incidental Mutation 'R5528:4930519G04Rik'
ID 433524
Institutional Source Beutler Lab
Gene Symbol 4930519G04Rik
Ensembl Gene ENSMUSG00000029564
Gene Name RIKEN cDNA 4930519G04 gene
Synonyms
MMRRC Submission 043086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R5528 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 114991725-115021941 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to G at 115012415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031547] [ENSMUST00000134389] [ENSMUST00000134389]
AlphaFold Q9CPT7
Predicted Effect probably null
Transcript: ENSMUST00000031547
SMART Domains Protein: ENSMUSP00000031547
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 88 111 N/A INTRINSIC
low complexity region 173 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112153
SMART Domains Protein: ENSMUSP00000107780
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 88 111 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000134389
SMART Domains Protein: ENSMUSP00000144618
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 62 85 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000134389
SMART Domains Protein: ENSMUSP00000144618
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 62 85 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000142582
SMART Domains Protein: ENSMUSP00000116852
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 69 92 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000142582
SMART Domains Protein: ENSMUSP00000116852
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 69 92 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,772,260 (GRCm39) L483P probably benign Het
Ablim2 C T 5: 36,013,510 (GRCm39) Q148* probably null Het
Ap3s2 A T 7: 79,530,234 (GRCm39) *194R probably null Het
Arpp21 C T 9: 111,978,421 (GRCm39) A235T probably benign Het
C9orf72 T C 4: 35,213,556 (GRCm39) D198G probably benign Het
Ccdc33 T C 9: 57,936,078 (GRCm39) D939G probably benign Het
Celsr2 A T 3: 108,320,610 (GRCm39) I734N probably damaging Het
Clcn1 C A 6: 42,277,275 (GRCm39) N455K probably benign Het
Cpne8 C T 15: 90,503,893 (GRCm39) V91I possibly damaging Het
Cstdc7 A G 18: 42,306,727 (GRCm39) probably null Het
Ddx1 A G 12: 13,279,295 (GRCm39) V448A probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eeig1 G A 2: 32,456,339 (GRCm39) A334T probably damaging Het
Eif2a G T 3: 58,455,933 (GRCm39) D311Y probably damaging Het
Eif2ak4 G A 2: 118,258,419 (GRCm39) E512K probably damaging Het
Esp15 A T 17: 39,955,640 (GRCm39) Y69F probably benign Het
Gucy1a1 A T 3: 82,016,380 (GRCm39) Y203N probably damaging Het
Hook3 T C 8: 26,562,321 (GRCm39) Q248R probably damaging Het
Ifit2 T A 19: 34,550,937 (GRCm39) V159E possibly damaging Het
Il17rd T C 14: 26,810,024 (GRCm39) V20A possibly damaging Het
Kcnq3 T A 15: 65,897,027 (GRCm39) D291V probably damaging Het
Klf11 A T 12: 24,704,929 (GRCm39) M111L probably benign Het
Lama5 T A 2: 179,836,356 (GRCm39) H1165L probably benign Het
Lmo7 A G 14: 102,139,522 (GRCm39) N702S probably damaging Het
Lta4h T C 10: 93,307,736 (GRCm39) V323A probably damaging Het
Mkrn3 T C 7: 62,068,735 (GRCm39) E352G possibly damaging Het
Ms4a19 T C 19: 11,118,999 (GRCm39) S37G possibly damaging Het
Mtf2 T A 5: 108,242,023 (GRCm39) L277Q probably damaging Het
Myo9b A G 8: 71,775,918 (GRCm39) N370D probably benign Het
Nlrp4e A C 7: 23,036,316 (GRCm39) K723T probably benign Het
Nsun3 A G 16: 62,555,689 (GRCm39) V279A possibly damaging Het
Pde6b A G 5: 108,571,424 (GRCm39) D459G probably benign Het
Phgdh T C 3: 98,235,655 (GRCm39) I121V probably benign Het
Pik3r5 T C 11: 68,386,803 (GRCm39) C811R probably damaging Het
Spaca6 A C 17: 18,051,344 (GRCm39) I27L probably benign Het
Trmt1l G A 1: 151,330,746 (GRCm39) V588I probably benign Het
Tshr A G 12: 91,503,967 (GRCm39) N302D probably damaging Het
Vmn2r23 A G 6: 123,689,961 (GRCm39) D279G probably damaging Het
Wnt3a T C 11: 59,166,106 (GRCm39) N58S probably damaging Het
Zkscan8 A G 13: 21,704,895 (GRCm39) V276A probably damaging Het
Other mutations in 4930519G04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:4930519G04Rik APN 5 115,017,645 (GRCm39) missense possibly damaging 0.90
IGL03287:4930519G04Rik APN 5 115,008,237 (GRCm39) missense probably damaging 0.99
R0512:4930519G04Rik UTSW 5 115,001,569 (GRCm39) missense probably benign 0.00
R1537:4930519G04Rik UTSW 5 115,008,278 (GRCm39) missense probably benign 0.00
R1563:4930519G04Rik UTSW 5 115,001,569 (GRCm39) missense probably benign 0.00
R2069:4930519G04Rik UTSW 5 115,012,341 (GRCm39) missense probably benign 0.05
R4718:4930519G04Rik UTSW 5 115,001,615 (GRCm39) splice site probably null
R4744:4930519G04Rik UTSW 5 115,017,617 (GRCm39) missense possibly damaging 0.83
R5684:4930519G04Rik UTSW 5 115,017,621 (GRCm39) missense possibly damaging 0.90
R7489:4930519G04Rik UTSW 5 115,017,686 (GRCm39) missense unknown
R7548:4930519G04Rik UTSW 5 115,016,059 (GRCm39) missense possibly damaging 0.46
R7665:4930519G04Rik UTSW 5 115,012,384 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AGACAGTTTTACACGTGGGG -3'
(R):5'- TCTATTGAGGGAAGAAGTTGCTTAG -3'

Sequencing Primer
(F):5'- ACGTGGGGTGCCCTCAG -3'
(R):5'- TTAGGACTAAGCCGCTCCG -3'
Posted On 2016-10-06