Incidental Mutation 'R4131:Igha'
ID 314686
Institutional Source Beutler Lab
Gene Symbol Igha
Ensembl Gene ENSMUSG00000095079
Gene Name immunoglobulin heavy constant alpha
Synonyms IgA, Igh-2
MMRRC Submission 040994-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4131 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 113219824-113223856 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) C to A at 113222449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000178282
AA Change: G324V
Predicted Effect probably benign
Transcript: ENSMUST00000194738
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (32/32)
MGI Phenotype PHENOTYPE: Homozygous null mice have no detectable levels of IgA, decreased levels of IgG3, and increased levels of most other classes of immunoglobulins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Abca12 A G 1: 71,359,030 (GRCm39) probably null Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Art3 A T 5: 92,540,421 (GRCm39) M55L probably benign Het
C1d C T 11: 17,214,054 (GRCm39) probably benign Het
Ces1c A G 8: 93,827,312 (GRCm39) M484T probably damaging Het
Cisd3 T C 11: 97,579,257 (GRCm39) V133A possibly damaging Het
Clpx A G 9: 65,223,937 (GRCm39) I230V possibly damaging Het
Cmklr1 C A 5: 113,752,545 (GRCm39) R152L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Heca A G 10: 17,777,987 (GRCm39) S537P probably damaging Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Klk1b3 T A 7: 43,851,111 (GRCm39) N181K probably damaging Het
Klra2 T A 6: 131,205,180 (GRCm39) R220S probably benign Het
Lama2 C T 10: 26,917,170 (GRCm39) V2252I probably benign Het
Megf10 G A 18: 57,313,607 (GRCm39) C17Y probably damaging Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or52n4b C G 7: 108,143,744 (GRCm39) S2* probably null Het
Or8b37 T A 9: 37,959,170 (GRCm39) Y217* probably null Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Phactr1 A T 13: 43,190,953 (GRCm39) Q141L probably damaging Het
Prelid2 T G 18: 42,084,224 (GRCm39) D6A possibly damaging Het
Psmd1 T C 1: 86,006,422 (GRCm39) S263P probably damaging Het
Rassf6 C T 5: 90,757,646 (GRCm39) D105N probably damaging Het
Ryr3 C T 2: 112,757,328 (GRCm39) probably null Het
Sema4g T A 19: 44,987,358 (GRCm39) F501L probably benign Het
Ssrp1 A G 2: 84,874,791 (GRCm39) E537G probably null Het
Try4 T A 6: 41,282,335 (GRCm39) Y218* probably null Het
Zbtb40 G T 4: 136,722,707 (GRCm39) S790R probably benign Het
Other mutations in Igha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03014:Igha UTSW 12 113,222,713 (GRCm39) missense unknown
R0078:Igha UTSW 12 113,223,547 (GRCm39) splice site probably benign
R3973:Igha UTSW 12 113,219,972 (GRCm39) unclassified probably benign
R4866:Igha UTSW 12 113,223,129 (GRCm39) missense probably benign 0.30
R5931:Igha UTSW 12 113,223,710 (GRCm39) missense probably benign 0.05
R6101:Igha UTSW 12 113,220,017 (GRCm39) unclassified probably benign
R7735:Igha UTSW 12 113,220,019 (GRCm39) critical splice acceptor site probably benign
R8172:Igha UTSW 12 113,223,592 (GRCm39) missense
R8738:Igha UTSW 12 113,223,144 (GRCm39) missense probably damaging 1.00
R8951:Igha UTSW 12 113,222,684 (GRCm39) missense
R8985:Igha UTSW 12 113,222,611 (GRCm39) missense
R9803:Igha UTSW 12 113,222,759 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGTCTCCGAGGCCTTACAAG -3'
(R):5'- AGTGTTTGAGCCCCTAAAGG -3'

Sequencing Primer
(F):5'- TCCGAGGCCTTACAAGCTTAG -3'
(R):5'- TTTGAGCCCCTAAAGGAGCCAG -3'
Posted On 2015-05-14