Incidental Mutation 'R8864:Ighv1-16'
ID 675821
Institutional Source Beutler Lab
Gene Symbol Ighv1-16
Ensembl Gene ENSMUSG00000095554
Gene Name immunoglobulin heavy variable 1-16
Synonyms Gm7012
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R8864 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 114665872-114666165 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114665999 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 56 (G56D)
Ref Sequence ENSEMBL: ENSMUSP00000100282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103501]
AlphaFold A0A075B5U1
Predicted Effect probably benign
Transcript: ENSMUST00000103501
AA Change: G56D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100282
Gene: ENSMUSG00000095554
AA Change: G56D

DomainStartEndE-ValueType
IGv 17 98 5.7e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,890,425 C297* probably null Het
Adamts3 T C 5: 89,707,122 probably benign Het
Best2 T A 8: 85,009,313 M331L probably benign Het
Cachd1 T A 4: 100,994,829 S1207R probably damaging Het
Cacna2d3 G T 14: 29,333,778 N298K probably damaging Het
Cyp2j12 T C 4: 96,121,513 Y203C probably damaging Het
Dnah8 T C 17: 30,762,642 I3046T possibly damaging Het
Eif3b T C 5: 140,426,532 V252A probably benign Het
Ergic2 A G 6: 148,181,895 V355A probably benign Het
F13a1 C T 13: 36,877,779 G670D probably damaging Het
Gfpt1 T A 6: 87,054,623 D82E probably benign Het
Ggnbp2 G A 11: 84,840,076 R376C probably damaging Het
Gm30302 T C 13: 49,787,512 N241D probably benign Het
Grn T C 11: 102,436,385 F191L unknown Het
Jrkl T C 9: 13,244,321 D445G probably benign Het
Loxl3 A G 6: 83,035,758 T93A probably damaging Het
Lrp1b C T 2: 41,112,706 A2094T Het
Lrriq3 T A 3: 155,187,938 D425E probably damaging Het
Majin T C 19: 6,211,620 V55A possibly damaging Het
Mapk8ip3 A T 17: 24,899,518 V1192E probably damaging Het
Mdga1 T C 17: 29,931,321 S106G unknown Het
Mtch2 C T 2: 90,854,930 R135* probably null Het
Naip1 T C 13: 100,426,320 N779S possibly damaging Het
Nfia T C 4: 98,063,145 V403A possibly damaging Het
Npas4 C A 19: 4,988,528 D121Y probably damaging Het
Rab3gap1 C T 1: 127,909,893 R231W probably damaging Het
Rangap1 C G 15: 81,726,069 probably benign Het
Rgs5 T A 1: 169,690,421 F75I probably benign Het
Rnf19a T C 15: 36,265,306 D215G possibly damaging Het
Rwdd4a A T 8: 47,547,841 probably benign Het
Setd5 G A 6: 113,111,508 R199H probably damaging Het
Spef2 T C 15: 9,599,747 Q2004R unknown Het
Syne1 T C 10: 5,420,473 K236E probably benign Het
Tas2r104 A G 6: 131,685,669 F26L possibly damaging Het
Tbc1d32 T A 10: 56,087,559 E954D probably benign Het
Tenm2 A C 11: 36,027,195 S1914A possibly damaging Het
Tln2 G T 9: 67,330,552 Y32* probably null Het
Tnc C T 4: 63,993,059 R1425H probably damaging Het
Unc13b T C 4: 43,174,724 C1851R unknown Het
Wapl T A 14: 34,692,202 D340E probably benign Het
Zfp74 T C 7: 29,934,810 E491G probably damaging Het
Other mutations in Ighv1-16
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4445001:Ighv1-16 UTSW 12 114666060 missense probably benign 0.01
R5800:Ighv1-16 UTSW 12 114665911 missense probably benign 0.00
R9381:Ighv1-16 UTSW 12 114665978 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCGTCCAGGGTTTCTGACAC -3'
(R):5'- GAAATGGCCTGGGATGTCAC -3'

Sequencing Primer
(F):5'- AGGGTTTCTGACACACTCAGG -3'
(R):5'- TTCACAGGTGTCCACTCTGAGG -3'
Posted On 2021-07-15