Incidental Mutation 'R5821:Ighd'
ID 449948
Institutional Source Beutler Lab
Gene Symbol Ighd
Ensembl Gene ENSMUSG00000104213
Gene Name immunoglobulin heavy constant delta
Synonyms IgD
MMRRC Submission 043401-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R5821 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 113371155-113379944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113373253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 240 (L240H)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000192250
AA Change: L240H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000194162
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show delayed antibody affinity maturation and reduced IgE levels. Homozygotes for another null allele show 30-50% less B cells in spleen and lymph nodes, reduced IgG2b levels, and increased IgA levels. Homozygotes for an ENU-induced allele show shifted IgD expression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,686,458 (GRCm39) V278D possibly damaging Het
Acacb A G 5: 114,322,167 (GRCm39) D227G possibly damaging Het
Akap9 A G 5: 4,096,064 (GRCm39) E2313G probably benign Het
Cchcr1 A T 17: 35,839,745 (GRCm39) E564D probably damaging Het
Cers2 G A 3: 95,229,008 (GRCm39) probably benign Het
Cfap161 A G 7: 83,425,188 (GRCm39) I301T probably benign Het
Ciita A T 16: 10,329,669 (GRCm39) E648V possibly damaging Het
Cir1 C T 2: 73,142,804 (GRCm39) C10Y probably damaging Het
Clasp1 T A 1: 118,518,214 (GRCm39) F1087I probably damaging Het
Cped1 C A 6: 22,138,681 (GRCm39) F415L probably benign Het
Dnah7b A G 1: 46,181,292 (GRCm39) T1060A possibly damaging Het
Epha5 G T 5: 84,232,587 (GRCm39) P809H probably damaging Het
Fuca1 T A 4: 135,650,273 (GRCm39) probably null Het
Galnt2l A T 8: 123,627,372 (GRCm39) *98R probably null Het
Gm26796 G A 12: 80,805,564 (GRCm39) R237C unknown Het
Idua A G 5: 108,827,600 (GRCm39) Y138C probably benign Het
Ing2 C G 8: 48,121,861 (GRCm39) C229S probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kctd8 A T 5: 69,267,828 (GRCm39) N427K probably benign Het
Kif16b T C 2: 142,544,586 (GRCm39) E1147G probably damaging Het
Kif18a G A 2: 109,120,190 (GRCm39) probably benign Het
Krt82 T A 15: 101,456,820 (GRCm39) R187* probably null Het
Lrrk2 T C 15: 91,593,593 (GRCm39) probably null Het
M1ap T C 6: 82,945,083 (GRCm39) Y126H probably benign Het
Mmel1 A G 4: 154,970,044 (GRCm39) N226D possibly damaging Het
Mtmr11 A G 3: 96,075,185 (GRCm39) D353G possibly damaging Het
Nfkbia A T 12: 55,538,005 (GRCm39) H149Q probably damaging Het
Nr5a1 A T 2: 38,598,511 (GRCm39) F95L probably damaging Het
Nutm2 A G 13: 50,623,891 (GRCm39) Y196C probably benign Het
Oxtr A G 6: 112,466,457 (GRCm39) I101T probably damaging Het
Pcsk2 T A 2: 143,591,035 (GRCm39) probably null Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Pign A G 1: 105,516,788 (GRCm39) W585R possibly damaging Het
Pomgnt1 A G 4: 116,012,933 (GRCm39) S407G probably benign Het
Ppfia3 G A 7: 45,003,040 (GRCm39) T372I probably damaging Het
Prrc2b A T 2: 32,102,144 (GRCm39) E739V probably damaging Het
Ro60 A G 1: 143,642,503 (GRCm39) V209A probably benign Het
Scn7a T C 2: 66,574,047 (GRCm39) E192G probably damaging Het
Slmap T C 14: 26,183,435 (GRCm39) D316G probably damaging Het
Smim8 GGTTTAATGAAGAG GG 4: 34,771,259 (GRCm39) probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tgm2 T A 2: 157,984,974 (GRCm39) Y44F possibly damaging Het
Tmc8 C A 11: 117,683,455 (GRCm39) S670* probably null Het
Tmem145 A G 7: 25,014,946 (GRCm39) D523G probably benign Het
Vmn2r115 G A 17: 23,566,937 (GRCm39) G483E probably damaging Het
Other mutations in Ighd
AlleleSourceChrCoordTypePredicted EffectPPH Score
Surface UTSW 12 113,379,819 (GRCm39) missense probably benign 0.01
surface2 UTSW 12 113,379,661 (GRCm39) critical splice donor site probably benign
R4703:Ighd UTSW 12 113,379,661 (GRCm39) critical splice donor site probably benign
R4792:Ighd UTSW 12 113,379,819 (GRCm39) missense probably benign 0.01
R5087:Ighd UTSW 12 113,378,047 (GRCm39) unclassified probably benign
R8020:Ighd UTSW 12 113,378,168 (GRCm39) missense probably benign 0.01
R8073:Ighd UTSW 12 113,379,789 (GRCm39) missense probably benign 0.01
R8732:Ighd UTSW 12 113,378,183 (GRCm39) missense
R9168:Ighd UTSW 12 113,379,203 (GRCm39) missense
R9707:Ighd UTSW 12 113,378,108 (GRCm39) missense
R9802:Ighd UTSW 12 113,371,455 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCATCCACAAGAGGCCTTAG -3'
(R):5'- TGCTACAAGAAGTCCCAGAGC -3'

Sequencing Primer
(F):5'- ACAGAAGTGCTTCTTTACAGTGTCC -3'
(R):5'- AAGTCCCAGAGCTTTGCAG -3'
Posted On 2016-12-20