Incidental Mutation 'R5684:4930519G04Rik'
ID 443226
Institutional Source Beutler Lab
Gene Symbol 4930519G04Rik
Ensembl Gene ENSMUSG00000029564
Gene Name RIKEN cDNA 4930519G04 gene
Synonyms
MMRRC Submission 043178-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5684 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 114991725-115021941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115017621 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CPT7
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
AU040320 A G 4: 126,685,939 (GRCm39) T172A probably benign Het
Bspry T C 4: 62,414,519 (GRCm39) F371L possibly damaging Het
Cacna1c A G 6: 118,664,005 (GRCm39) F555L probably damaging Het
Colec12 T C 18: 9,849,009 (GRCm39) S396P probably damaging Het
Creb3l1 A G 2: 91,821,076 (GRCm39) V336A probably damaging Het
Crocc T C 4: 140,778,455 (GRCm39) N85S probably damaging Het
Dcbld2 T C 16: 58,270,172 (GRCm39) S278P possibly damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Ercc4 T A 16: 12,948,465 (GRCm39) C561S probably benign Het
Gab1 T C 8: 81,496,299 (GRCm39) K637R probably damaging Het
Grm5 T C 7: 87,779,853 (GRCm39) S1130P probably benign Het
H2-M10.6 A T 17: 37,124,746 (GRCm39) N221I probably damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Kcnh5 T A 12: 75,184,423 (GRCm39) K100I probably damaging Het
Mgat4f A G 1: 134,317,660 (GRCm39) D144G probably benign Het
Naip6 T A 13: 100,436,888 (GRCm39) Q545L probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Or13c7d T C 4: 43,770,624 (GRCm39) N129S probably benign Het
Or5p63 A T 7: 107,811,279 (GRCm39) Y152* probably null Het
Or5p64 A T 7: 107,855,246 (GRCm39) I33N possibly damaging Het
Pidd1 A T 7: 141,021,024 (GRCm39) probably null Het
Plec A G 15: 76,089,796 (GRCm39) probably null Het
Plekhh2 C T 17: 84,905,346 (GRCm39) A1080V probably damaging Het
Plppr3 A T 10: 79,701,151 (GRCm39) S564T possibly damaging Het
Ppp2ca A G 11: 52,004,154 (GRCm39) K104E probably damaging Het
Rad54l T A 4: 115,957,760 (GRCm39) K407M probably damaging Het
Sfn T A 4: 133,328,603 (GRCm39) K160* probably null Het
Slc22a15 A G 3: 101,770,271 (GRCm39) S439P probably damaging Het
Slc6a2 T A 8: 93,715,681 (GRCm39) V273D probably damaging Het
Slc9a9 T C 9: 94,937,561 (GRCm39) F471S possibly damaging Het
Smc3 A G 19: 53,629,235 (GRCm39) E896G probably benign Het
Sorbs3 C T 14: 70,418,671 (GRCm39) R717Q probably damaging Het
Spg11 T C 2: 121,923,984 (GRCm39) E779G probably damaging Het
Spg7 T C 8: 123,800,623 (GRCm39) V66A probably damaging Het
Trmt11 A G 10: 30,423,706 (GRCm39) S400P probably damaging Het
Trpc6 T C 9: 8,653,129 (GRCm39) V567A probably damaging Het
Vmn2r103 T G 17: 20,013,251 (GRCm39) I124S probably benign Het
Vps13a A T 19: 16,676,409 (GRCm39) M1188K probably benign Het
Vtn G A 11: 78,391,384 (GRCm39) G266S probably damaging Het
Yeats2 T C 16: 20,012,553 (GRCm39) S640P possibly damaging Het
Zc3hav1 A T 6: 38,288,214 (GRCm39) M874K probably benign 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
R5528:4930519G04Rik UTSW 5 115,012,415 (GRCm39) splice site probably null
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'- TCCAGAGCCTGTCCTTAGTG -3'
(R):5'- GCAGAGATGTTTAACGTGCTCTAAAG -3'

Sequencing Primer
(F):5'- AGAGCCTGTCCTTAGTGTGCAG -3'
(R):5'- CGTGCTCTAAAGTAGGAGGGTTAC -3'
Posted On 2016-11-09