Incidental Mutation 'R5684:4930519G04Rik'
ID443226
Institutional Source Beutler Lab
Gene Symbol 4930519G04Rik
Ensembl Gene ENSMUSG00000029564
Gene NameRIKEN cDNA 4930519G04 gene
Synonyms
MMRRC Submission 043178-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R5684 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location114853664-114883880 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114879560 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 144 (D144G)
Ref Sequence ENSEMBL: ENSMUSP00000144618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031547] [ENSMUST00000134389]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031547
AA Change: D170G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031547
Gene: ENSMUSG00000029564
AA Change: D170G

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 possibly damaging
Transcript: ENSMUST00000134389
AA Change: D144G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144618
Gene: ENSMUSG00000029564
AA Change: D144G

DomainStartEndE-ValueType
coiled coil region 62 85 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000142582
AA Change: D151G
SMART Domains Protein: ENSMUSP00000116852
Gene: ENSMUSG00000029564
AA Change: D151G

DomainStartEndE-ValueType
coiled coil region 69 92 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik A G 1: 134,389,922 D144G probably benign Het
AU040320 A G 4: 126,792,146 T172A probably benign Het
Bspry T C 4: 62,496,282 F371L possibly damaging Het
Cacna1c A G 6: 118,687,044 F555L probably damaging Het
Colec12 T C 18: 9,849,009 S396P probably damaging Het
Creb3l1 A G 2: 91,990,731 V336A probably damaging Het
Crocc T C 4: 141,051,144 N85S probably damaging Het
Dcbld2 T C 16: 58,449,809 S278P possibly damaging Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Ercc4 T A 16: 13,130,601 C561S probably benign Het
Gab1 T C 8: 80,769,670 K637R probably damaging Het
Grm5 T C 7: 88,130,645 S1130P probably benign Het
H2-M10.6 A T 17: 36,813,854 N221I probably damaging Het
Htr7 C A 19: 35,969,871 A248S probably damaging Het
Kcnh5 T A 12: 75,137,649 K100I probably damaging Het
Naip6 T A 13: 100,300,380 Q545L probably damaging Het
Nkpd1 C T 7: 19,523,573 Q276* probably null Het
Olfr159 T C 4: 43,770,624 N129S probably benign Het
Olfr487 A T 7: 108,212,072 Y152* probably null Het
Olfr488 A T 7: 108,256,039 I33N possibly damaging Het
Pidd1 A T 7: 141,441,111 probably null Het
Plec A G 15: 76,205,596 probably null Het
Plekhh2 C T 17: 84,597,918 A1080V probably damaging Het
Plppr3 A T 10: 79,865,317 S564T possibly damaging Het
Ppp2ca A G 11: 52,113,327 K104E probably damaging Het
Rad54l T A 4: 116,100,563 K407M probably damaging Het
Sfn T A 4: 133,601,292 K160* probably null Het
Slc22a15 A G 3: 101,862,955 S439P probably damaging Het
Slc6a2 T A 8: 92,989,053 V273D probably damaging Het
Slc9a9 T C 9: 95,055,508 F471S possibly damaging Het
Smc3 A G 19: 53,640,804 E896G probably benign Het
Sorbs3 C T 14: 70,181,222 R717Q probably damaging Het
Spg11 T C 2: 122,093,503 E779G probably damaging Het
Spg7 T C 8: 123,073,884 V66A probably damaging Het
Trmt11 A G 10: 30,547,710 S400P probably damaging Het
Trpc6 T C 9: 8,653,128 V567A probably damaging Het
Vmn2r103 T G 17: 19,792,989 I124S probably benign Het
Vps13a A T 19: 16,699,045 M1188K probably benign Het
Vtn G A 11: 78,500,558 G266S probably damaging Het
Yeats2 T C 16: 20,193,803 S640P possibly damaging Het
Zc3hav1 A T 6: 38,311,279 M874K probably benign 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
R5528:4930519G04Rik UTSW 5 114874354 splice site probably null
R7489:4930519G04Rik UTSW 5 114879625 missense unknown
R7548:4930519G04Rik UTSW 5 114877998 missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TCCAGAGCCTGTCCTTAGTG -3'
(R):5'- GCAGAGATGTTTAACGTGCTCTAAAG -3'

Sequencing Primer
(F):5'- AGAGCCTGTCCTTAGTGTGCAG -3'
(R):5'- CGTGCTCTAAAGTAGGAGGGTTAC -3'
Posted On2016-11-09