Incidental Mutation 'R5519:A530084C06Rik'
ID 431471
Institutional Source Beutler Lab
Gene Symbol A530084C06Rik
Ensembl Gene ENSMUSG00000090863
Gene Name RIKEN cDNA A530084C06 gene
Synonyms
MMRRC Submission 043078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5519 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 31740117-31743316 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 31742702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042118] [ENSMUST00000170573]
AlphaFold Q3UTW2
Predicted Effect probably benign
Transcript: ENSMUST00000042118
SMART Domains Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415

DomainStartEndE-ValueType
low complexity region 32 72 N/A INTRINSIC
low complexity region 89 105 N/A INTRINSIC
FH 113 204 3.98e-50 SMART
low complexity region 206 211 N/A INTRINSIC
low complexity region 225 254 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
low complexity region 296 325 N/A INTRINSIC
low complexity region 340 355 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000170573
AA Change: I184V
SMART Domains Protein: ENSMUSP00000129167
Gene: ENSMUSG00000090863
AA Change: I184V

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
low complexity region 44 67 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
low complexity region 168 186 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.7%
  • 20x: 88.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,729,621 (GRCm39) V99A possibly damaging Het
2510009E07Rik A G 16: 21,472,218 (GRCm39) S91P probably benign Het
2810021J22Rik G A 11: 58,770,923 (GRCm39) S135N probably benign Het
Acadsb T C 7: 131,031,694 (GRCm39) S177P probably damaging Het
Acp3 C A 9: 104,168,687 (GRCm39) G393W probably damaging Het
Axl G A 7: 25,478,087 (GRCm39) A204V possibly damaging Het
Birc6 A T 17: 74,887,173 (GRCm39) M806L probably benign Het
Cacna1i T C 15: 80,255,700 (GRCm39) L861P probably damaging Het
Cfap44 A T 16: 44,224,451 (GRCm39) D53V probably damaging Het
Col9a1 G A 1: 24,269,335 (GRCm39) probably null Het
Ctf2 T A 7: 127,318,463 (GRCm39) I179L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Emilin2 G A 17: 71,559,930 (GRCm39) P1016S probably benign Het
Gm12790 G A 4: 101,824,888 (GRCm39) P127S probably benign Het
Gsap T A 5: 21,494,857 (GRCm39) V24E probably damaging Het
Ipp T C 4: 116,367,964 (GRCm39) F66L possibly damaging Het
Jakmip3 T C 7: 138,609,520 (GRCm39) I208T probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mosmo C T 7: 120,329,733 (GRCm39) P118L probably benign Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or51a42 G A 7: 103,708,504 (GRCm39) Q102* probably null Het
Padi2 A G 4: 140,676,533 (GRCm39) D557G probably damaging Het
Pde11a T A 2: 75,906,299 (GRCm39) K639N probably damaging Het
Pspc1 T C 14: 57,009,413 (GRCm39) I140M probably benign Het
Rundc3a A T 11: 102,292,857 (GRCm39) I417F probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Serpinb3b A G 1: 107,087,506 (GRCm39) M1T probably null Het
Sin3a T C 9: 57,025,457 (GRCm39) probably null Het
St8sia1 T C 6: 142,909,287 (GRCm39) N70D probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tpm2 T G 4: 43,522,751 (GRCm39) D55A possibly damaging Het
Trdv1 T A 14: 54,119,405 (GRCm39) M22K probably benign Het
Zc3h4 A T 7: 16,169,157 (GRCm39) T1089S unknown Het
Zfp518b G A 5: 38,831,441 (GRCm39) T188M probably damaging Het
Zfp74 G T 7: 29,634,559 (GRCm39) A383D probably damaging Het
Other mutations in A530084C06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0547:A530084C06Rik UTSW 13 31,742,813 (GRCm39) utr 5 prime probably benign
R4700:A530084C06Rik UTSW 13 31,742,795 (GRCm39) utr 5 prime probably benign
R5866:A530084C06Rik UTSW 13 31,743,178 (GRCm39) missense unknown
R7546:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7549:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7630:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7633:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7899:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7900:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
R7902:A530084C06Rik UTSW 13 31,742,978 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCCCAGACCGATAGCATAAG -3'
(R):5'- ACACCTCCAATTTCATGCCGG -3'

Sequencing Primer
(F):5'- GCTTGTCTTCCGCTCAAA -3'
(R):5'- AATTTCATGCCGGCGCTG -3'
Posted On 2016-10-05