Incidental Mutation 'R5559:Ighv5-9-1'
ID 436469
Institutional Source Beutler Lab
Gene Symbol Ighv5-9-1
Ensembl Gene ENSMUSG00000095210
Gene Name immunoglobulin heavy variable 5-9-1
Synonyms Gm16886
MMRRC Submission 043116-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5559 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 113699733-113700026 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 113699745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 122 (Y122*)
Ref Sequence ENSEMBL: ENSMUSP00000141243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103452] [ENSMUST00000192264]
AlphaFold A0A075B5Q6
Predicted Effect probably null
Transcript: ENSMUST00000103452
AA Change: Y112*
SMART Domains Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210
AA Change: Y112*

IGv 35 116 8.34e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000192264
AA Change: Y122*
SMART Domains Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: Y122*

signal peptide 1 28 N/A INTRINSIC
IGv 45 126 3.3e-35 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G T 16: 88,555,981 (GRCm39) R65L unknown Het
Abcc5 A T 16: 20,157,636 (GRCm39) M1307K probably damaging Het
Anapc1 A T 2: 128,522,354 (GRCm39) C129* probably null Het
Brd10 A C 19: 29,694,363 (GRCm39) F1710C possibly damaging Het
Brox A T 1: 183,073,552 (GRCm39) S39R possibly damaging Het
Ccdc168 C G 1: 44,097,675 (GRCm39) R1141T possibly damaging Het
Cd109 T C 9: 78,568,250 (GRCm39) V310A probably benign Het
Chd9 G A 8: 91,742,553 (GRCm39) probably null Het
Chmp2b A T 16: 65,337,316 (GRCm39) I170N probably damaging Het
Cnp G T 11: 100,467,243 (GRCm39) G62V probably damaging Het
Dcp2 C A 18: 44,538,554 (GRCm39) P206T probably damaging Het
Dhx57 A T 17: 80,561,808 (GRCm39) V902E possibly damaging Het
Dmwd G A 7: 18,814,363 (GRCm39) V338M probably damaging Het
Eva1c A G 16: 90,701,139 (GRCm39) D258G probably benign Het
Flvcr2 T A 12: 85,851,181 (GRCm39) F448L probably benign Het
Garin5b A G 7: 4,761,449 (GRCm39) V421A probably damaging Het
Gchfr C T 2: 119,000,187 (GRCm39) H23Y probably benign Het
Helz2 T A 2: 180,871,919 (GRCm39) M2617L probably damaging Het
Lrrtm3 A G 10: 63,766,045 (GRCm39) I514T probably benign Het
Obox5 A T 7: 15,491,522 (GRCm39) I21F probably benign Het
Or51f1 C T 7: 102,506,414 (GRCm39) G25D possibly damaging Het
P2rx2 T C 5: 110,488,427 (GRCm39) I376V possibly damaging Het
Poli A G 18: 70,642,356 (GRCm39) S529P probably benign Het
Ruvbl1 T C 6: 88,450,078 (GRCm39) I83T possibly damaging Het
Rwdd2a T C 9: 86,456,483 (GRCm39) S220P probably damaging Het
Serpinb9h T A 13: 33,588,301 (GRCm39) D295E probably benign Het
Sf3b3 A T 8: 111,564,847 (GRCm39) D320E probably benign Het
Slc6a21 C A 7: 44,937,853 (GRCm39) L390I possibly damaging Het
Smarcd1 T G 15: 99,601,176 (GRCm39) probably null Het
Sp1 T A 15: 102,317,365 (GRCm39) S295T probably benign Het
Tas2r104 T A 6: 131,662,094 (GRCm39) H205L probably damaging Het
Tmem69 C G 4: 116,410,388 (GRCm39) G194A probably damaging Het
Unc5c G T 3: 141,509,548 (GRCm39) C676F probably damaging Het
Unkl A G 17: 25,424,687 (GRCm39) N52S probably benign Het
Vmn1r233 T C 17: 21,214,839 (GRCm39) Y37C possibly damaging Het
Vmn1r57 A G 7: 5,223,898 (GRCm39) N141S probably damaging Het
Vmn2r50 T C 7: 9,771,253 (GRCm39) Y816C probably damaging Het
Vmn2r51 T A 7: 9,826,128 (GRCm39) S540C probably damaging Het
Other mutations in Ighv5-9-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Ighv5-9-1 APN 12 113,700,010 (GRCm39) missense probably damaging 1.00
R4921:Ighv5-9-1 UTSW 12 113,699,914 (GRCm39) missense possibly damaging 0.61
R5161:Ighv5-9-1 UTSW 12 113,699,777 (GRCm39) missense possibly damaging 0.70
R5678:Ighv5-9-1 UTSW 12 113,700,207 (GRCm39) missense possibly damaging 0.72
R7529:Ighv5-9-1 UTSW 12 113,699,954 (GRCm39) missense possibly damaging 0.91
R7618:Ighv5-9-1 UTSW 12 113,699,819 (GRCm39) missense probably damaging 0.99
R7791:Ighv5-9-1 UTSW 12 113,700,165 (GRCm39) missense probably damaging 0.99
R9272:Ighv5-9-1 UTSW 12 113,699,818 (GRCm39) missense probably damaging 1.00
R9331:Ighv5-9-1 UTSW 12 113,699,878 (GRCm39) missense possibly damaging 0.80
Z1088:Ighv5-9-1 UTSW 12 113,699,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-24