Incidental Mutation 'R5856:Ighm'
ID 454922
Institutional Source Beutler Lab
Gene Symbol Ighm
Ensembl Gene ENSMUSG00000076617
Gene Name immunoglobulin heavy constant mu
Synonyms Igh-M, Ig mu, IgM, muH, Igh6
MMRRC Submission 043230-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R5856 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 113382446-113386350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113385222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 246 (L246Q)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000103426
AA Change: L246Q
SMART Domains Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: L246Q

IG_like 23 99 1.94e-2 SMART
IGc1 131 209 2.37e-14 SMART
IG_like 241 315 1.6e-2 SMART
IGc1 348 425 1.94e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175007
Predicted Effect unknown
Transcript: ENSMUST00000177715
AA Change: L246Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196624
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Adgrf5 A G 17: 43,757,011 (GRCm39) T497A probably benign Het
Ano5 T C 7: 51,235,074 (GRCm39) I669T probably benign Het
Arhgap11a A T 2: 113,664,116 (GRCm39) N722K possibly damaging Het
Atm A T 9: 53,407,255 (GRCm39) I1161K possibly damaging Het
Atp13a4 T C 16: 29,252,805 (GRCm39) T714A possibly damaging Het
BC051665 T A 13: 60,932,314 (GRCm39) M92L probably benign Het
Car3 G A 3: 14,936,701 (GRCm39) V255M probably damaging Het
Cnot11 C A 1: 39,576,534 (GRCm39) F179L probably benign Het
Dctn1 A G 6: 83,174,847 (GRCm39) Y1013C probably damaging Het
Gm19965 A G 1: 116,749,579 (GRCm39) D420G probably benign Het
Gm5444 A G 13: 4,821,683 (GRCm39) noncoding transcript Het
Hydin A T 8: 111,268,474 (GRCm39) D2946V probably damaging Het
Hyou1 C T 9: 44,292,641 (GRCm39) R119C probably damaging Het
Itpr3 A G 17: 27,325,379 (GRCm39) E1324G probably damaging Het
Loxl4 G T 19: 42,583,805 (GRCm39) Q749K possibly damaging Het
Muc2 C A 7: 141,299,381 (GRCm39) probably benign Het
Myh11 T C 16: 14,023,840 (GRCm39) T1505A probably benign Het
Nsmce2 A G 15: 59,250,792 (GRCm39) E21G probably damaging Het
Or13c3 T A 4: 52,856,516 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,254 (GRCm39) I6F probably benign Het
Plaa A G 4: 94,471,724 (GRCm39) I375T probably benign Het
Pou2f1 C T 1: 165,742,699 (GRCm39) A65T probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rxfp1 T A 3: 79,570,620 (GRCm39) N271Y possibly damaging Het
Sema5b T G 16: 35,466,756 (GRCm39) Y219* probably null Het
Slc35f3 G T 8: 127,047,819 (GRCm39) R53L probably benign Het
Slc44a5 T C 3: 153,964,029 (GRCm39) V465A possibly damaging Het
Slc9a5 A G 8: 106,083,797 (GRCm39) I446V possibly damaging Het
Slf1 A T 13: 77,254,206 (GRCm39) D204E possibly damaging Het
Sox5 T A 6: 144,155,088 (GRCm39) T3S probably damaging Het
Srr G A 11: 74,803,838 (GRCm39) R40C possibly damaging Het
Tas2r115 T A 6: 132,714,501 (GRCm39) H150L possibly damaging Het
Tet2 A G 3: 133,192,401 (GRCm39) S678P probably benign Het
Tmem11 T C 11: 60,755,684 (GRCm39) K183E probably damaging Het
Upf1 T C 8: 70,787,412 (GRCm39) probably null Het
Xpo6 A T 7: 125,748,674 (GRCm39) probably benign Het
Zfp638 C T 6: 83,954,047 (GRCm39) S1384L probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Ighm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Ighm APN 12 113,384,854 (GRCm39) unclassified probably benign
IGL01775:Ighm APN 12 113,386,087 (GRCm39) missense unknown
IGL02069:Ighm APN 12 113,384,768 (GRCm39) unclassified probably benign
IGL03124:Ighm APN 12 113,385,258 (GRCm39) missense unknown
Destiny UTSW 12 113,385,165 (GRCm39) missense
manifest UTSW 12 113,384,873 (GRCm39) nonsense probably null
G1Funyon:Ighm UTSW 12 113,385,165 (GRCm39) missense
R3055:Ighm UTSW 12 113,382,596 (GRCm39) unclassified probably benign
R3056:Ighm UTSW 12 113,382,596 (GRCm39) unclassified probably benign
R4164:Ighm UTSW 12 113,385,915 (GRCm39) missense unknown
R4475:Ighm UTSW 12 113,384,513 (GRCm39) unclassified probably benign
R4871:Ighm UTSW 12 113,385,241 (GRCm39) missense unknown
R5542:Ighm UTSW 12 113,382,601 (GRCm39) unclassified probably benign
R5738:Ighm UTSW 12 113,385,115 (GRCm39) missense unknown
R5946:Ighm UTSW 12 113,386,329 (GRCm39) missense unknown
R6267:Ighm UTSW 12 113,385,187 (GRCm39) missense unknown
R6296:Ighm UTSW 12 113,385,187 (GRCm39) missense unknown
R7409:Ighm UTSW 12 113,385,852 (GRCm39) missense
R7492:Ighm UTSW 12 113,386,293 (GRCm39) missense
R7898:Ighm UTSW 12 113,384,873 (GRCm39) nonsense probably null
R8089:Ighm UTSW 12 113,384,854 (GRCm39) unclassified probably benign
R8301:Ighm UTSW 12 113,385,165 (GRCm39) missense
R8444:Ighm UTSW 12 113,384,813 (GRCm39) missense
R9378:Ighm UTSW 12 113,386,210 (GRCm39) missense
R9447:Ighm UTSW 12 113,384,794 (GRCm39) missense
R9674:Ighm UTSW 12 113,385,139 (GRCm39) missense
R9733:Ighm UTSW 12 113,386,097 (GRCm39) missense probably benign 0.03
R9803:Ighm UTSW 12 113,382,635 (GRCm39) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-02-10