Incidental Mutation 'R2427:Ighv1-20'
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ID324778
Institutional Source Beutler Lab
Gene Symbol Ighv1-20
Ensembl Gene ENSMUSG00000095761
Gene Nameimmunoglobulin heavy variable V1-20
Synonyms
MMRRC Submission 040389-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.321) question?
Stock #R2427 (G1)
Quality Score183
Status Validated
Chromosome12
Chromosomal Location114723772-114724205 bp(-) (GRCm38)
Type of Mutationsynonymous
DNA Base Change (assembly) C to T at 114724072 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103506] [ENSMUST00000194968]
Predicted Effect silent
Transcript: ENSMUST00000103506
SMART Domains Protein: ENSMUSP00000100287
Gene: ENSMUSG00000095761

DomainStartEndE-ValueType
IGv 35 116 1.42e-26 SMART
Predicted Effect silent
Transcript: ENSMUST00000194968
SMART Domains Protein: ENSMUSP00000141859
Gene: ENSMUSG00000095761

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 5.7e-29 SMART
Meta Mutation Damage Score 0.0504 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T C 13: 105,109,761 F277L probably benign Het
Ankmy1 A G 1: 92,870,807 probably null Het
Atp2a1 T A 7: 126,446,583 *995L probably null Het
Axin2 T A 11: 108,923,974 N229K possibly damaging Het
Capn13 A T 17: 73,326,317 probably benign Het
Ccdc180 A G 4: 45,929,545 I1202V probably benign Het
Cep295 A G 9: 15,334,238 L974P probably damaging Het
Cers3 T C 7: 66,795,793 Y321H probably benign Het
Chrnb4 T C 9: 55,034,817 Y391C probably benign Het
Ciao1 T C 2: 127,246,691 H104R probably damaging Het
Cldn4 A T 5: 134,946,477 V90E probably damaging Het
Crbn T C 6: 106,783,472 E253G probably damaging Het
Ctns A G 11: 73,196,686 W5R probably damaging Het
Eme1 G A 11: 94,650,975 probably benign Het
Fam19a4 C T 6: 97,014,367 probably benign Het
Fat2 T A 11: 55,310,812 T479S probably benign Het
Fbxw25 T C 9: 109,652,860 N253D probably benign Het
Fer A G 17: 63,957,303 I39V probably benign Het
Fmnl2 A G 2: 53,116,979 M768V probably damaging Het
Frg1 T C 8: 41,414,866 K24E probably damaging Het
I830077J02Rik G T 3: 105,928,004 A19D probably damaging Het
Igsf9 A G 1: 172,490,739 S149G probably damaging Het
Klra10 T A 6: 130,279,335 I119F probably benign Het
Lrrc4b T A 7: 44,462,552 I616N probably damaging Het
Lrrc71 T C 3: 87,746,002 T64A probably benign Het
Ly9 A T 1: 171,607,232 I31N probably damaging Het
Mef2a A G 7: 67,266,060 S165P probably damaging Het
Nol4 T G 18: 22,850,698 probably benign Het
Plxnd1 C T 6: 115,967,748 probably null Het
Rab27b T C 18: 69,996,134 T30A probably damaging Het
Rasa4 A G 5: 136,102,027 D384G probably benign Het
Slx4 G A 16: 3,988,987 L531F probably damaging Het
Tgm1 C T 14: 55,712,100 probably null Het
Tpm2 T C 4: 43,523,306 N17D probably damaging Het
Tyrp1 A G 4: 80,850,871 T134A probably benign Het
Zfand6 T A 7: 84,634,290 K35* probably null Het
Zfp648 G A 1: 154,205,073 C326Y probably damaging Het
Other mutations in Ighv1-20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02320:Ighv1-20 APN 12 114723843 missense probably damaging 1.00
R4274:Ighv1-20 UTSW 12 114724199 missense probably damaging 1.00
R5472:Ighv1-20 UTSW 12 114723851 missense probably damaging 0.97
R5778:Ighv1-20 UTSW 12 114723877 missense probably benign 0.11
R6288:Ighv1-20 UTSW 12 114723899 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CTACAGTCAATGTGGCCTTGC -3'
(R):5'- GATCACTGTCCTCTCCACAG -3'

Sequencing Primer
(F):5'- CCCTTGAACTTCTGGTTGTAGAAAG -3'
(R):5'- GTCCCTGAAGACACTGACTC -3'
Posted On2015-06-29