Incidental Mutation 'R3414:Ighv1-23'
ID475601
Institutional Source Beutler Lab
Gene Symbol Ighv1-23
Ensembl Gene ENSMUSG00000103290
Gene Nameimmunoglobulin heavy variable V1-23
SynonymsIghv1-23, immunoglobulin heavy variable V1-23
MMRRC Submission 040632-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.602) question?
Stock #R3414 (G1)
Quality Score151
Status Not validated
Chromosome12
Chromosomal Location114764450-114764883 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 114764467 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 112 (V112I)
Ref Sequence ENSEMBL: ENSMUSP00000141293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194625]
Predicted Effect probably benign
Transcript: ENSMUST00000194625
AA Change: V112I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141293
Gene: ENSMUSG00000103290
AA Change: V112I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 4.5e-26 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,602 Q802L probably benign Het
Atp8b4 C A 2: 126,375,757 W613L probably damaging Het
AW554918 C A 18: 25,400,072 T261K possibly damaging Het
Cttnbp2 A G 6: 18,389,205 V1178A probably benign Het
Ddx18 T C 1: 121,562,149 N177S probably benign Het
Dhx29 A G 13: 112,947,273 K621E probably damaging Het
Diexf A C 1: 193,128,502 S64R possibly damaging Het
Eef2 G T 10: 81,177,858 R66L probably damaging Het
Ergic2 A G 6: 148,206,681 probably benign Het
Fcna G C 2: 25,627,493 P49A probably damaging Het
Hace1 T A 10: 45,648,675 D234E possibly damaging Het
Ifi202b A G 1: 173,963,913 S400P probably benign Het
Il4i1 T C 7: 44,836,658 L22P probably damaging Het
Il7 G T 3: 7,576,033 Q67K probably benign Het
Inpp5d C A 1: 87,668,057 T175N possibly damaging Het
Klk1b26 A G 7: 44,016,873 I247V probably benign Het
Klrc1 A G 6: 129,677,763 probably null Het
Lama1 T C 17: 67,737,603 C166R probably damaging Het
Mrps5 A G 2: 127,596,912 D219G probably benign Het
Mtus1 T C 8: 41,048,063 T806A probably damaging Het
Naip2 G A 13: 100,189,263 R46* probably null Het
Nos2 A T 11: 78,957,588 Y1107F probably benign Het
Nsd3 T C 8: 25,700,019 I135T probably damaging Het
Olfr156 C T 4: 43,821,258 M34I probably benign Het
Olfr710 G T 7: 106,944,176 S275* probably null Het
Olfr808 A G 10: 129,768,432 H312R probably benign Het
Pla2g4f T C 2: 120,303,106 S579G probably benign Het
Ppip5k1 A T 2: 121,327,661 S252R probably damaging Het
Proc T A 18: 32,123,685 T310S probably benign Het
Psg21 A T 7: 18,652,380 L227Q probably damaging Het
Rusc2 T G 4: 43,415,935 S414A probably damaging Het
Sec24a T A 11: 51,729,458 N456Y probably damaging Het
Slc1a7 A G 4: 108,010,994 E497G probably benign Het
Spag8 T A 4: 43,651,606 S423C probably damaging Het
Spata13 A G 14: 60,706,723 T522A probably benign Het
Top1mt T C 15: 75,657,176 N573S probably benign Het
Trim69 T C 2: 122,178,644 V395A probably benign Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Tusc1 C A 4: 93,334,936 R162L probably damaging Het
Unc13b T A 4: 43,234,658 probably benign Het
Vmn1r2 T A 4: 3,172,696 M205K probably damaging Het
Zfhx4 A G 3: 5,403,823 K3014E probably damaging Het
Other mutations in Ighv1-23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3413:Ighv1-23 UTSW 12 114764467 missense probably benign 0.10
R4602:Ighv1-23 UTSW 12 114764559 missense probably benign 0.27
R4911:Ighv1-23 UTSW 12 114764752 missense possibly damaging 0.81
R5347:Ighv1-23 UTSW 12 114764756 critical splice acceptor site probably benign
R6603:Ighv1-23 UTSW 12 114764521 missense probably damaging 1.00
R7438:Ighv1-23 UTSW 12 114764475 missense probably damaging 1.00
R7771:Ighv1-23 UTSW 12 114764736 missense probably benign 0.25
R8328:Ighv1-23 UTSW 12 114764496 missense probably damaging 1.00
Z1177:Ighv1-23 UTSW 12 114764685 missense probably damaging 0.98
Predicted Primers
Posted On2017-05-11