Incidental Mutation 'R3436:Ighg1'
ID475669
Institutional Source Beutler Lab
Gene Symbol Ighg1
Ensembl Gene ENSMUSG00000076614
Gene Nameimmunoglobulin heavy constant gamma 1 (G1m marker)
SynonymsIgh-4, IgG1
MMRRC Submission 040654-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3436 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location113325240-113330523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113329560 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 170 (E170G)
Gene Model predicted gene model for transcript(s):
Predicted Effect possibly damaging
Transcript: ENSMUST00000103420
AA Change: E170G

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100216
Gene: ENSMUSG00000076614
AA Change: E170G

DomainStartEndE-ValueType
IGc1 22 92 3.64e-15 SMART
Pfam:C1-set 124 210 2e-14 PFAM
IGc1 239 312 4.57e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194304
AA Change: E170G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Mutant mice are viable and fertile but show impaired primary and secondary Igh-4 immune responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambp T C 4: 63,149,484 E163G probably benign Het
Angptl3 A T 4: 99,033,303 K219N probably benign Het
Atp6v1g1 A G 4: 63,550,018 N86S probably benign Het
Cadps A T 14: 12,616,158 probably null Het
Ccdc146 A G 5: 21,297,005 S804P possibly damaging Het
Cdc20b T C 13: 113,078,699 I267T probably damaging Het
Cdh8 A G 8: 99,400,718 probably benign Het
Dse G T 10: 34,152,474 N873K probably benign Het
Ehd1 G T 19: 6,277,014 E14* probably null Het
F8 A G X: 75,267,424 probably benign Het
Flnb T C 14: 7,942,057 V2345A probably damaging Het
Fndc1 T C 17: 7,750,357 K1559E probably damaging Het
Kmt2b G T 7: 30,576,692 P1794Q probably damaging Het
Lama2 C T 10: 27,001,235 E2652K probably benign Het
Med25 C A 7: 44,885,890 R37L possibly damaging Het
Olfr1189 T A 2: 88,592,104 F100Y probably damaging Het
Olfr136 A G 17: 38,335,432 I92V probably damaging Het
Olfr138 G A 17: 38,275,530 G253D probably damaging Het
Optc T C 1: 133,897,879 D303G probably damaging Het
Pkd1l2 T C 8: 117,040,739 N1271D probably benign Het
Plpp2 A T 10: 79,527,813 probably null Het
Polq A T 16: 37,062,337 N1342I probably damaging Het
Prr16 A G 18: 51,303,123 N225D probably benign Het
Pwwp2a C T 11: 43,706,188 Q452* probably null Het
Slfn2 A T 11: 83,069,564 H123L probably benign Het
Sort1 T A 3: 108,337,807 I325N probably damaging Het
Tmem132e A G 11: 82,444,330 Y654C probably damaging Het
Tmprss11b A T 5: 86,667,584 Y48* probably null Het
Tpp2 T C 1: 43,940,144 I67T probably damaging Het
Trdn G A 10: 33,468,195 probably null Het
Trim14 C T 4: 46,523,739 V100I possibly damaging Het
Trim17 T C 11: 58,965,233 C39R probably damaging Het
Trim52 C T 14: 106,107,307 P133L possibly damaging Het
Unc13b T C 4: 43,097,028 probably benign Het
Vmn2r94 G A 17: 18,258,388 probably benign Het
Vsig4 A G X: 96,290,816 V29A probably benign Het
Washc4 T A 10: 83,570,002 I454N probably benign Het
Wnk3 T A X: 151,286,304 F886I probably benign Het
Ylpm1 T C 12: 85,049,870 probably null Het
Zfp507 A T 7: 35,787,770 Y234N probably damaging Het
Other mutations in Ighg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Ighg1 APN 12 113329184 missense unknown
IGL02637:Ighg1 APN 12 113329512 missense unknown
Gee UTSW 12 113330506 missense unknown
whiz UTSW 12 113330446 missense
R4012:Ighg1 UTSW 12 113329650 missense probably damaging 1.00
R4741:Ighg1 UTSW 12 113326558 unclassified probably benign
R4883:Ighg1 UTSW 12 113327518 unclassified probably benign
R5450:Ighg1 UTSW 12 113330506 missense unknown
R5642:Ighg1 UTSW 12 113329034 missense probably damaging 0.97
R7219:Ighg1 UTSW 12 113326596 missense
R7243:Ighg1 UTSW 12 113330446 missense
R7313:Ighg1 UTSW 12 113329458 missense
R7534:Ighg1 UTSW 12 113329729 missense
R8029:Ighg1 UTSW 12 113329145 missense
Predicted Primers
Posted On2017-05-11