Incidental Mutation 'IGL02596:Jagn1'
ID 299850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jagn1
Ensembl Gene ENSMUSG00000051256
Gene Name jagunal homolog 1
Synonyms 5830427H10Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02596
Quality Score
Status
Chromosome 6
Chromosomal Location 113419530-113425190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113424562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 145 (V145I)
Ref Sequence ENSEMBL: ENSMUSP00000098631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101070] [ENSMUST00000204254]
AlphaFold Q5XKN4
Predicted Effect probably benign
Transcript: ENSMUST00000101070
AA Change: V145I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000098631
Gene: ENSMUSG00000051256
AA Change: V145I

DomainStartEndE-ValueType
Pfam:Jagunal 1 177 2.4e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204254
SMART Domains Protein: ENSMUSP00000145000
Gene: ENSMUSG00000051256

DomainStartEndE-ValueType
Pfam:Jagunal 1 40 2.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204287
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,868,904 (GRCm39) Q11H possibly damaging Het
Armcx5 T A X: 134,647,268 (GRCm39) I448K probably damaging Het
Atp4b T A 8: 13,443,471 (GRCm39) Y69F possibly damaging Het
Ccdc7b T A 8: 129,798,959 (GRCm39) V12E probably benign Het
Cdc5l C A 17: 45,735,530 (GRCm39) probably benign Het
Clptm1l C T 13: 73,761,785 (GRCm39) R330C probably benign Het
Cpq C T 15: 33,213,160 (GRCm39) R60W probably damaging Het
Cpvl T C 6: 53,908,995 (GRCm39) Y256C probably damaging Het
Cryzl2 A T 1: 157,292,539 (GRCm39) D107V probably damaging Het
Cyp2e1 G A 7: 140,350,031 (GRCm39) V239M probably damaging Het
Cyp2j7 T A 4: 96,103,659 (GRCm39) D292V possibly damaging Het
Dcaf1 A G 9: 106,740,220 (GRCm39) Y1202C probably damaging Het
Dnah3 T C 7: 119,538,137 (GRCm39) N3616S probably benign Het
Enam A G 5: 88,650,885 (GRCm39) D723G probably benign Het
Eps8l1 G A 7: 4,473,871 (GRCm39) R226H probably damaging Het
Erich2 A G 2: 70,343,147 (GRCm39) probably benign Het
Esyt3 A C 9: 99,210,068 (GRCm39) L271V probably benign Het
Fer1l4 T C 2: 155,881,052 (GRCm39) N838S probably benign Het
Gad1 T C 2: 70,425,028 (GRCm39) Y441H probably damaging Het
Gja1 G T 10: 56,264,348 (GRCm39) V236F possibly damaging Het
Gpr156 T C 16: 37,799,086 (GRCm39) I100T probably benign Het
Hace1 A G 10: 45,576,736 (GRCm39) T803A possibly damaging Het
Kdm4b C A 17: 56,706,706 (GRCm39) T899K probably benign Het
Klk1b8 G A 7: 43,602,187 (GRCm39) V40M probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mast1 G T 8: 85,644,400 (GRCm39) A843E probably benign Het
Mbd1 T A 18: 74,409,868 (GRCm39) probably benign Het
Mdga1 A G 17: 30,051,379 (GRCm39) probably benign Het
Mlh3 A G 12: 85,287,732 (GRCm39) probably null Het
Or10ag53 C A 2: 87,082,473 (GRCm39) T64K probably damaging Het
Or5b109 A T 19: 13,211,763 (GRCm39) I50F probably damaging Het
Pwp1 A G 10: 85,707,882 (GRCm39) probably null Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,242 (GRCm39) V100E probably benign Het
Spata31e2 T A 1: 26,723,083 (GRCm39) H699L probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tgfb1i1 T A 7: 127,848,068 (GRCm39) M1K probably null Het
Tubgcp6 T A 15: 88,985,117 (GRCm39) E1657V probably damaging Het
Zfp770 A G 2: 114,026,308 (GRCm39) V587A probably benign Het
Zxdc A G 6: 90,350,691 (GRCm39) probably null Het
Other mutations in Jagn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Jagn1 APN 6 113,424,436 (GRCm39) missense probably damaging 1.00
PIT4618001:Jagn1 UTSW 6 113,424,398 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16