Incidental Mutation 'R5038:B230219D22Rik'
ID 393125
Institutional Source Beutler Lab
Gene Symbol B230219D22Rik
Ensembl Gene ENSMUSG00000045767
Gene Name RIKEN cDNA B230219D22 gene
Synonyms
MMRRC Submission 042628-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R5038 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55840937-55851313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55847288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 134 (Y134H)
Ref Sequence ENSEMBL: ENSMUSP00000055271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057844]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057844
AA Change: Y134H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055271
Gene: ENSMUSG00000045767
AA Change: Y134H

DomainStartEndE-ValueType
internal_repeat_1 91 115 2.48e-7 PROSPERO
internal_repeat_1 123 147 2.48e-7 PROSPERO
Meta Mutation Damage Score 0.2270 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 94% (64/68)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A T 11: 11,539,375 (GRCm39) probably null Het
Abtb2 G T 2: 103,397,408 (GRCm39) G113C probably damaging Het
Acsm5 A G 7: 119,134,034 (GRCm39) T272A probably damaging Het
Adprs C T 4: 126,211,102 (GRCm39) E272K possibly damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Atp7b A C 8: 22,518,472 (GRCm39) I122S possibly damaging Het
Bnc1 A G 7: 81,618,462 (GRCm39) S868P probably damaging Het
Camta1 T C 4: 151,229,926 (GRCm39) E302G probably damaging Het
Car1 A G 3: 14,835,933 (GRCm39) Y129H probably damaging Het
Cdh22 T C 2: 164,984,197 (GRCm39) T352A probably benign Het
Ckmt2 T C 13: 92,009,282 (GRCm39) E215G probably benign Het
Cyb5r4 T G 9: 86,941,130 (GRCm39) probably null Het
Dhrs13 A G 11: 77,923,256 (GRCm39) probably benign Het
Dsg1c G A 18: 20,397,901 (GRCm39) A34T probably benign Het
Epb41l1 T C 2: 156,363,330 (GRCm39) V613A probably benign Het
Fam114a1 A G 5: 65,166,388 (GRCm39) M240V probably damaging Het
Gm15455 T C 1: 33,877,257 (GRCm39) noncoding transcript Het
Herc1 T G 9: 66,383,742 (GRCm39) probably benign Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Ifna15 T C 4: 88,476,266 (GRCm39) N73D probably benign Het
Imp4 A T 1: 34,482,016 (GRCm39) L45F probably damaging Het
Jak3 G A 8: 72,138,702 (GRCm39) A967T probably damaging Het
Krtap19-2 A T 16: 88,670,916 (GRCm39) Y76* probably null Het
Map4k5 A T 12: 69,871,388 (GRCm39) N492K probably damaging Het
Mycbp2 C T 14: 103,534,375 (GRCm39) R372H probably damaging Het
Nos2 G A 11: 78,813,140 (GRCm39) S16N probably benign Het
Nr2c2 A G 6: 92,116,803 (GRCm39) T2A probably damaging Het
Nup188 T C 2: 30,199,232 (GRCm39) Y267H probably damaging Het
Nxph2 G A 2: 23,211,556 (GRCm39) probably null Het
Or5b107 T A 19: 13,142,955 (GRCm39) D192E probably benign Het
Or5b96 T A 19: 12,867,770 (GRCm39) H57L probably damaging Het
Or9i1b T A 19: 13,896,822 (GRCm39) V146E possibly damaging Het
Otof C T 5: 30,541,783 (GRCm39) E761K possibly damaging Het
Pik3r1 C T 13: 101,825,952 (GRCm39) R37Q probably damaging Het
Pkn3 T C 2: 29,975,293 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Ptpn14 T C 1: 189,519,083 (GRCm39) S38P probably damaging Het
Raf1 G A 6: 115,597,196 (GRCm39) Q35* probably null Het
Rps3a1 C A 3: 86,045,338 (GRCm39) E251D probably benign Het
Scd1 C T 19: 44,390,148 (GRCm39) V207M probably damaging Het
Shq1 A G 6: 100,607,954 (GRCm39) V319A probably benign Het
Slc4a8 T C 15: 100,693,702 (GRCm39) Y416H probably damaging Het
Slco1a5 T C 6: 142,208,363 (GRCm39) T143A probably benign Het
Slco1a5 C T 6: 142,212,090 (GRCm39) G90D probably damaging Het
Snx9 T C 17: 5,937,348 (GRCm39) V30A probably benign Het
Spdya T C 17: 71,895,561 (GRCm39) probably benign Het
Stat1 A T 1: 52,162,368 (GRCm39) N75I probably damaging Het
Sv2b A T 7: 74,807,173 (GRCm39) M159K probably damaging Het
Tdh A T 14: 63,733,575 (GRCm39) Y89* probably null Het
Tmc7 A G 7: 118,142,588 (GRCm39) F600S probably damaging Het
Trpa1 T A 1: 14,981,090 (GRCm39) H104L probably damaging Het
Ttn G A 2: 76,678,984 (GRCm39) probably benign Het
Vmn1r113 A G 7: 20,521,419 (GRCm39) I70M possibly damaging Het
Vmn1r171 A G 7: 23,332,188 (GRCm39) M138V probably benign Het
Zfc3h1 G A 10: 115,240,116 (GRCm39) V550I probably benign Het
Zfp335 G T 2: 164,752,564 (GRCm39) S60* probably null Het
Zfp7 T C 15: 76,776,010 (GRCm39) M684T probably benign Het
Zfp984 T A 4: 147,839,903 (GRCm39) H316L probably damaging Het
Zmym2 T A 14: 57,193,637 (GRCm39) Y1151N possibly damaging Het
Other mutations in B230219D22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R9254:B230219D22Rik UTSW 13 55,847,283 (GRCm39) missense probably damaging 1.00
R9379:B230219D22Rik UTSW 13 55,847,283 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTTGCAGCCTACCAGTG -3'
(R):5'- GGGGTAACTAACAACCTGCTCC -3'

Sequencing Primer
(F):5'- GCCTACCAGTGGCAGAAACATAG -3'
(R):5'- AACCTGCTCCTAACGCCTG -3'
Posted On 2016-06-15