Incidental Mutation 'R4460:C030048H21Rik'
ID330086
Institutional Source Beutler Lab
Gene Symbol C030048H21Rik
Ensembl Gene ENSMUSG00000079537
Gene NameRIKEN cDNA C030048H21 gene
Synonyms
MMRRC Submission 041719-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R4460 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location26251757-26257554 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 26255863 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153797 (fasta)
Predicted Effect probably null
Transcript: ENSMUST00000137586
Predicted Effect probably null
Transcript: ENSMUST00000217256
Predicted Effect probably null
Transcript: ENSMUST00000227200
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik C T 7: 28,152,856 T1268I probably benign Het
A830010M20Rik A G 5: 107,503,765 T687A possibly damaging Het
Cav1 A G 6: 17,306,472 D8G probably damaging Het
Celf6 G A 9: 59,603,044 R103H probably damaging Het
Ctr9 A G 7: 111,046,894 I698V probably benign Het
Cts6 G C 13: 61,195,458 I316M probably benign Het
Dnajc13 C A 9: 104,181,063 R1496L probably damaging Het
Dscam A G 16: 96,610,319 Y1786H probably damaging Het
Itga2 C G 13: 114,843,483 D1061H probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Klhl26 T C 8: 70,451,544 Y538C probably damaging Het
Ltk A G 2: 119,755,613 probably null Het
Med20 T C 17: 47,618,917 V93A probably benign Het
Mmp9 G T 2: 164,949,038 K115N probably damaging Het
Mroh5 A T 15: 73,791,796 D339E probably damaging Het
Muc1 A T 3: 89,231,563 D493V probably damaging Het
Mx1 G T 16: 97,454,081 S113R probably damaging Het
Nlrp9c T A 7: 26,378,098 H698L probably damaging Het
Nol9 T G 4: 152,057,836 L641R probably damaging Het
Park2 A T 17: 12,061,646 D463V probably damaging Het
Pla2g4e T G 2: 120,186,382 H226P possibly damaging Het
Pou2f1 A G 1: 165,895,006 F337L probably damaging Het
Ptcd1 G T 5: 145,159,506 A259E probably benign Het
Ptov1 T C 7: 44,865,576 M204V probably benign Het
Rasal2 A G 1: 157,175,832 F419S possibly damaging Het
Rbbp8nl A G 2: 180,280,971 S210P probably benign Het
Rgmb C A 17: 15,807,626 R277L probably benign Het
Snx2 A G 18: 53,176,444 E22G probably benign Het
Snx30 A T 4: 59,885,022 R221* probably null Het
Tmem143 C T 7: 45,906,952 T97I probably damaging Het
Ttn A C 2: 76,814,647 F12955V probably damaging Het
Ubr2 C T 17: 46,945,045 probably null Het
Vmn1r203 T A 13: 22,524,682 M211K probably damaging Het
Vmn2r121 G A X: 124,128,584 P580S probably benign Het
Zfp804b A T 5: 6,771,481 D491E probably damaging Het
Other mutations in C030048H21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:C030048H21Rik APN 2 26256620 missense probably damaging 0.98
IGL01380:C030048H21Rik APN 2 26256647 nonsense probably null
IGL01723:C030048H21Rik APN 2 26254768 missense possibly damaging 0.83
IGL03186:C030048H21Rik APN 2 26253338 critical splice donor site probably null
R1515:C030048H21Rik UTSW 2 26257503 splice site probably null
R5517:C030048H21Rik UTSW 2 26255887 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCGGAGTGATACCTTGCCC -3'
(R):5'- TAAGAGGTCCAGATGTCCCC -3'

Sequencing Primer
(F):5'- CACAGGGTCTTTCTTCCACC -3'
(R):5'- TGCCCCTGTGTCCTGAG -3'
Posted On2015-07-21