Incidental Mutation 'R8020:Ighd'
ID 617322
Institutional Source Beutler Lab
Gene Symbol Ighd
Ensembl Gene ENSMUSG00000104213
Gene Name immunoglobulin heavy constant delta
Synonyms IgD
MMRRC Submission 067459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8020 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 113371155-113379944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113378168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 144 (S144T)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000177715
Predicted Effect probably benign
Transcript: ENSMUST00000192250
AA Change: S144T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000194162
AA Change: S144T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,870,594 (GRCm39) V32A probably benign Het
Atp8b1 A G 18: 64,679,084 (GRCm39) L799S probably damaging Het
Atxn7l1 C T 12: 33,375,952 (GRCm39) A82V probably benign Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Cubn A T 2: 13,483,989 (GRCm39) D201E probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gje1 T C 10: 14,593,021 (GRCm39) Y65C probably damaging Het
Gng11 C T 6: 4,008,077 (GRCm39) R47C probably damaging Het
Hyal4 T C 6: 24,755,995 (GRCm39) V71A probably benign Het
Il2rb T C 15: 78,369,204 (GRCm39) Y249C probably benign Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lrrc27 C T 7: 138,816,793 (GRCm39) S397L probably damaging Het
Ms4a6d T C 19: 11,567,472 (GRCm39) E143G probably benign Het
Mtif3 A G 5: 146,895,713 (GRCm39) Y125H probably damaging Het
Or51a8 A G 7: 102,550,472 (GRCm39) I299M possibly damaging Het
Prkcd G A 14: 30,331,201 (GRCm39) T58M possibly damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Prpf6 T C 2: 181,287,363 (GRCm39) F583L probably benign Het
Prrx1 T C 1: 163,075,831 (GRCm39) N245S probably damaging Het
Rfc1 A T 5: 65,429,521 (GRCm39) I922N probably damaging Het
Rplp0 T C 5: 115,698,903 (GRCm39) V53A probably benign Het
Sis A G 3: 72,816,298 (GRCm39) probably null Het
Slc12a1 T C 2: 125,020,022 (GRCm39) F411S possibly damaging Het
Slc30a9 G T 5: 67,464,376 (GRCm39) probably benign Het
Slc35d2 A G 13: 64,254,857 (GRCm39) I207T probably benign Het
Tbc1d14 G T 5: 36,729,187 (GRCm39) H60N probably benign Het
Tmem186 G A 16: 8,454,024 (GRCm39) T79I probably damaging Het
Tsga8 A G X: 82,530,704 (GRCm39) L135P unknown Het
Zfp981 A G 4: 146,621,825 (GRCm39) D250G possibly 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
R5821:Ighd UTSW 12 113,373,253 (GRCm39) missense probably benign 0.02
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'- TAGTCTCAGGACACTCCAGGTC -3'
(R):5'- AGGCCTTTCCTTACCAAGCC -3'

Sequencing Primer
(F):5'- TCTGGAATGTGCCCCCAG -3'
(R):5'- GGGCAGCCTATTTTCTAGATGAAACC -3'
Posted On 2020-01-23