Incidental Mutation 'R3055:5730596B20Rik'
ID265121
Institutional Source Beutler Lab
Gene Symbol 5730596B20Rik
Ensembl Gene ENSMUSG00000056468
Gene NameRIKEN cDNA 5730596B20 gene
Synonyms
MMRRC Submission 040564-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #R3055 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location52177498-52180851 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to T at 52179128 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070587] [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134831]
Predicted Effect unknown
Transcript: ENSMUST00000070587
AA Change: D58V
SMART Domains Protein: ENSMUSP00000069583
Gene: ENSMUSG00000056468
AA Change: D58V

DomainStartEndE-ValueType
low complexity region 64 79 N/A INTRINSIC
low complexity region 96 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114434
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

DomainStartEndE-ValueType
low complexity region 76 131 N/A INTRINSIC
HOX 192 254 3.35e-28 SMART
low complexity region 287 302 N/A INTRINSIC
low complexity region 304 326 N/A INTRINSIC
Pfam:DUF4074 377 441 9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Predicted Effect probably benign
Transcript: ENSMUST00000134831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191453
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A G 14: 4,348,878 E13G probably damaging Het
A230050P20Rik AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,873,717 probably benign Het
Abca16 A G 7: 120,435,851 M287V probably benign Het
Abca7 G A 10: 79,999,747 R283H probably damaging Het
Acad11 A G 9: 104,076,336 I126V probably damaging Het
Ahrr A G 13: 74,224,887 V148A probably damaging Het
Aldh1l2 T C 10: 83,502,472 K528E probably benign Het
Atp6v0a2 T A 5: 124,627,144 probably benign Het
Atxn10 A G 15: 85,387,005 D248G probably benign Het
Bard1 A G 1: 71,088,231 V73A possibly damaging Het
Catsper3 T C 13: 55,808,896 S376P unknown Het
Ccdc150 A G 1: 54,288,842 N361S possibly damaging Het
Cxcr6 A T 9: 123,810,464 I177F probably damaging Het
D330045A20Rik T A X: 139,511,557 V439E possibly damaging Het
Ddx25 A G 9: 35,551,351 V246A probably damaging Het
Drd4 T C 7: 141,294,479 V319A probably damaging Het
Dscam G A 16: 96,801,355 T629I probably damaging Het
Evi5l C T 8: 4,191,603 R311* probably null Het
Fxr1 A G 3: 34,049,184 E221G probably damaging Het
Gldn A T 9: 54,338,523 T453S probably damaging Het
Gm436 A G 4: 144,674,698 I72T probably benign Het
Ighm T A 12: 113,418,976 probably benign Het
Ints12 G A 3: 133,109,365 M444I possibly damaging Het
Lgr5 T A 10: 115,466,123 probably benign Het
Mier3 T A 13: 111,691,303 D7E probably damaging Het
Mms19 A T 19: 41,950,088 probably benign Het
Mrpl20 G T 4: 155,803,872 V43F possibly damaging Het
Muc5b G T 7: 141,864,041 V3575F probably damaging Het
Naip5 T C 13: 100,221,878 Y950C probably benign Het
Olfr1094 T C 2: 86,829,127 F125S possibly damaging Het
Olfr463 A G 11: 87,893,372 V184A possibly damaging Het
Olfr875 G T 9: 37,773,193 C178F probably damaging Het
Pkd1l2 T A 8: 117,068,315 probably null Het
Prune2 A G 19: 17,125,043 E2522G probably damaging Het
Radil T C 5: 142,495,406 T549A possibly damaging Het
Rasa2 G A 9: 96,611,473 L53F possibly damaging Het
Rasgrf2 A G 13: 92,029,075 F306L probably damaging Het
Rbm19 C T 5: 120,133,010 R633C probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Slc4a4 T A 5: 89,132,507 L353H probably damaging Het
Slc4a4 T C 5: 89,225,948 V971A probably damaging Het
Stil T A 4: 115,014,069 probably benign Het
Tjp3 T C 10: 81,280,507 K251R probably benign Het
Ugt2b35 A T 5: 87,001,598 Y236F probably benign Het
Utp14b T A 1: 78,664,725 D113E possibly damaging Het
Vmn1r121 G A 7: 21,098,465 Q17* probably null Het
Vmn2r28 A T 7: 5,481,392 L603Q probably damaging Het
Vps13b A G 15: 35,646,361 E1537G probably damaging Het
Xrcc4 T C 13: 90,062,077 T83A probably benign Het
Yae1d1 T C 13: 17,993,242 E22G probably damaging Het
Other mutations in 5730596B20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4576001:5730596B20Rik UTSW 6 52179469 missense unknown
R0279:5730596B20Rik UTSW 6 52179202 intron probably benign
R1344:5730596B20Rik UTSW 6 52179151 intron probably benign
R1418:5730596B20Rik UTSW 6 52179151 intron probably benign
R2073:5730596B20Rik UTSW 6 52178982 nonsense probably null
R3054:5730596B20Rik UTSW 6 52179128 intron probably benign
R4235:5730596B20Rik UTSW 6 52178961 intron probably benign
R4369:5730596B20Rik UTSW 6 52179062 intron probably benign
R6057:5730596B20Rik UTSW 6 52179520 intron probably benign
R7082:5730596B20Rik UTSW 6 52179280 missense unknown
R7476:5730596B20Rik UTSW 6 52179034 missense unknown
R7819:5730596B20Rik UTSW 6 52179274 intron probably benign
R8247:5730596B20Rik UTSW 6 52178962 missense unknown
Predicted Primers PCR Primer
(F):5'- AGGCAATAGCTCCCTTTCAGG -3'
(R):5'- TGATGATGCTTCCAGCCACTTTG -3'

Sequencing Primer
(F):5'- AGCCAGAGAAATGTTGTCTCTGC -3'
(R):5'- GAGGGCATGCCATTGTTT -3'
Posted On2015-02-05