Incidental Mutation 'R5528:4930519G04Rik'
ID433524
Institutional Source Beutler Lab
Gene Symbol 4930519G04Rik
Ensembl Gene ENSMUSG00000029564
Gene NameRIKEN cDNA 4930519G04 gene
Synonyms
MMRRC Submission 043086-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #R5528 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location114853664-114883880 bp(+) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) T to G at 114874354 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031547] [ENSMUST00000134389] [ENSMUST00000134389]
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: 138,066,499 L483P probably benign Het
1700025F22Rik T C 19: 11,141,635 S37G possibly damaging Het
3110043O21Rik T C 4: 35,213,556 D198G probably benign Het
Ablim2 C T 5: 35,856,166 Q148* probably null Het
Ap3s2 A T 7: 79,880,486 *194R probably null Het
Arpp21 C T 9: 112,149,353 A235T probably benign Het
Ccdc33 T C 9: 58,028,795 D939G probably benign Het
Celsr2 A T 3: 108,413,294 I734N probably damaging Het
Clcn1 C A 6: 42,300,341 N455K probably benign Het
Cpne8 C T 15: 90,619,690 V91I possibly damaging Het
Ddx1 A G 12: 13,229,294 V448A probably damaging Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Eif2a G T 3: 58,548,512 D311Y probably damaging Het
Eif2ak4 G A 2: 118,427,938 E512K probably damaging Het
Esp15 A T 17: 39,644,749 Y69F probably benign Het
Fam102a G A 2: 32,566,327 A334T probably damaging Het
Gm5689 A G 18: 42,173,662 probably null Het
Gucy1a1 A T 3: 82,109,073 Y203N probably damaging Het
Hook3 T C 8: 26,072,293 Q248R probably damaging Het
Ifit2 T A 19: 34,573,537 V159E possibly damaging Het
Il17rd T C 14: 27,088,067 V20A possibly damaging Het
Kcnq3 T A 15: 66,025,178 D291V probably damaging Het
Klf11 A T 12: 24,654,930 M111L probably benign Het
Lama5 T A 2: 180,194,563 H1165L probably benign Het
Lmo7 A G 14: 101,902,086 N702S probably damaging Het
Lta4h T C 10: 93,471,874 V323A probably damaging Het
Mkrn3 T C 7: 62,418,987 E352G possibly damaging Het
Mtf2 T A 5: 108,094,157 L277Q probably damaging Het
Myo9b A G 8: 71,323,274 N370D probably benign Het
Nlrp4e A C 7: 23,336,891 K723T probably benign Het
Nsun3 A G 16: 62,735,326 V279A possibly damaging Het
Pde6b A G 5: 108,423,558 D459G probably benign Het
Phgdh T C 3: 98,328,339 I121V probably benign Het
Pik3r5 T C 11: 68,495,977 C811R probably damaging Het
Spaca6 A C 17: 17,831,082 I27L probably benign Het
Trmt1l G A 1: 151,454,995 V588I probably benign Het
Tshr A G 12: 91,537,193 N302D probably damaging Het
Vmn2r23 A G 6: 123,713,002 D279G probably damaging Het
Wnt3a T C 11: 59,275,280 N58S probably damaging Het
Zkscan8 A G 13: 21,520,725 V276A probably damaging Het
Other mutations in 4930519G04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:4930519G04Rik APN 5 114879584 missense possibly damaging 0.90
IGL03287:4930519G04Rik APN 5 114870176 missense probably damaging 0.99
R0512:4930519G04Rik UTSW 5 114863508 missense probably benign 0.00
R1537:4930519G04Rik UTSW 5 114870217 missense probably benign 0.00
R1563:4930519G04Rik UTSW 5 114863508 missense probably benign 0.00
R2069:4930519G04Rik UTSW 5 114874280 missense probably benign 0.05
R4718:4930519G04Rik UTSW 5 114863554 splice site probably null
R4744:4930519G04Rik UTSW 5 114879556 missense possibly damaging 0.83
R5684:4930519G04Rik UTSW 5 114879560 missense possibly damaging 0.90
R7489:4930519G04Rik UTSW 5 114879625 missense unknown
R7548:4930519G04Rik UTSW 5 114877998 missense possibly damaging 0.46
R7665:4930519G04Rik UTSW 5 114874323 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 On2016-10-06