Incidental Mutation 'IGL03287:4930519G04Rik'
ID415757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930519G04Rik
Ensembl Gene ENSMUSG00000029564
Gene NameRIKEN cDNA 4930519G04 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL03287
Quality Score
Status
Chromosome5
Chromosomal Location114853664-114883880 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114870176 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 17 (D17V)
Ref Sequence ENSEMBL: ENSMUSP00000144618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031547] [ENSMUST00000134389]
Predicted Effect probably damaging
Transcript: ENSMUST00000031547
AA Change: D43V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031547
Gene: ENSMUSG00000029564
AA Change: D43V

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 noncoding transcript
Transcript: ENSMUST00000119930
Predicted Effect probably damaging
Transcript: ENSMUST00000134389
AA Change: D17V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144618
Gene: ENSMUSG00000029564
AA Change: D17V

DomainStartEndE-ValueType
coiled coil region 62 85 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000142582
AA Change: D24V
SMART Domains Protein: ENSMUSP00000116852
Gene: ENSMUSG00000029564
AA Change: D24V

DomainStartEndE-ValueType
coiled coil region 69 92 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh5 T A 8: 104,128,115 V225E probably damaging Het
Cfap52 C T 11: 67,935,976 probably benign Het
Cib4 A G 5: 30,488,543 L127P probably benign Het
Fbln2 A G 6: 91,233,494 H140R probably damaging Het
Grm8 A G 6: 27,760,255 F359L possibly damaging Het
Kat7 A T 11: 95,300,109 D150E probably damaging Het
Kif1b A G 4: 149,214,981 I944T possibly damaging Het
Krt87 T C 15: 101,432,337 probably benign Het
Mast1 T C 8: 84,913,353 S1142G probably benign Het
Neb A G 2: 52,137,323 Y6889H probably damaging Het
Olfr1 A T 11: 73,396,019 M1K probably null Het
Olfr1337 A G 4: 118,782,354 V77A possibly damaging Het
Plk4 A T 3: 40,805,118 I150L probably benign Het
Scn5a T C 9: 119,489,778 D1598G probably damaging Het
Skor2 A G 18: 76,876,135 K925E probably damaging Het
Slc25a29 A T 12: 108,831,209 F22L possibly damaging Het
Slc27a2 A G 2: 126,553,392 T80A probably damaging Het
Tlr3 A G 8: 45,402,780 V121A probably benign Het
Tubgcp3 A T 8: 12,639,630 D545E possibly damaging Het
Zdhhc8 T C 16: 18,225,100 Y412C probably benign Het
Zmynd12 A G 4: 119,453,579 E328G probably damaging Het
Other mutations in 4930519G04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:4930519G04Rik APN 5 114879584 missense possibly damaging 0.90
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
R5528:4930519G04Rik UTSW 5 114874354 splice site probably null
R5684:4930519G04Rik UTSW 5 114879560 missense possibly damaging 0.90
Posted On2016-08-02