Incidental Mutation 'PIT4618001:Jagn1'
ID 555693
Institutional Source Beutler Lab
Gene Symbol Jagn1
Ensembl Gene ENSMUSG00000051256
Gene Name jagunal homolog 1
Accession Numbers
Is this an essential gene? Not available question?
Stock # PIT4618001 (G1)
Quality Score 223.009
Status Not validated
Chromosome 6
Chromosomal Location 113442569-113448229 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113447437 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 90 (L90H)
Ref Sequence ENSEMBL: ENSMUSP00000098631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101070] [ENSMUST00000204254]
AlphaFold Q5XKN4
Predicted Effect probably damaging
Transcript: ENSMUST00000101070
AA Change: L90H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098631
Gene: ENSMUSG00000051256
AA Change: L90H

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

Pfam:Jagunal 1 40 2.5e-18 PFAM
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 85.9%
  • 20x: 75.2%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A T 5: 107,545,709 D64V probably damaging Het
Ankdd1a A C 9: 65,507,650 I268S possibly damaging Het
Atad3a C T 4: 155,750,138 R402Q probably benign Het
C3ar1 A G 6: 122,850,787 V157A probably benign Het
Cd55 C T 1: 130,456,869 V206I probably benign Het
Cd8a A G 6: 71,373,677 D42G possibly damaging Het
Cemip G T 7: 83,943,939 F1185L probably benign Het
Cfap58 A G 19: 47,975,514 D527G probably damaging Het
Cyp2a12 C A 7: 27,034,773 S377Y probably benign Het
Dapk2 A G 9: 66,268,686 D289G probably benign Het
Efcab6 G A 15: 83,983,446 A277V probably benign Het
Ephx2 A T 14: 66,102,222 F250L probably damaging Het
Flg2 A T 3: 93,203,781 S1039C unknown Het
Gm609 A G 16: 45,443,934 F87S probably benign Het
Gramd1a A G 7: 31,132,596 V674A probably benign Het
Gtf2a1 A C 12: 91,567,769 V237G probably benign Het
I830077J02Rik G A 3: 105,926,570 T90M probably damaging Het
Mdn1 G T 4: 32,746,527 A4158S probably benign Het
Myh11 G A 16: 14,201,066 A1839V Het
Olr1 G A 6: 129,499,906 A132V probably damaging Het
Paqr3 A T 5: 97,103,471 H131Q possibly damaging Het
Pde4b A T 4: 102,602,812 T397S probably benign Het
Pon1 A G 6: 5,168,349 C353R probably damaging Het
Ppie G A 4: 123,138,868 T43I probably null Het
Prr5l A G 2: 101,758,530 F92L probably damaging Het
Rai14 T C 15: 10,575,156 Y601C probably damaging Het
Rasal1 A G 5: 120,670,376 D491G probably damaging Het
Rbm12b1 T A 4: 12,145,441 V471E probably damaging Het
Rpusd2 T C 2: 119,038,452 L452P possibly damaging Het
Scgb2b24 A T 7: 33,738,611 C24S probably damaging Het
Slc17a5 C T 9: 78,538,248 V468M possibly damaging Het
Tcp10c A G 17: 13,356,510 K117R possibly damaging Het
Ubash3b A G 9: 41,016,627 S584P probably benign Het
Vps13b C T 15: 35,709,240 R1778C probably damaging Het
Ythdc2 A G 18: 44,834,598 I220M probably benign Het
Zfp474 C A 18: 52,638,404 T43K probably damaging Het
Zscan4-ps3 G A 7: 11,613,334 M432I probably benign Het
Other mutations in Jagn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Jagn1 APN 6 113447475 missense probably damaging 1.00
IGL02596:Jagn1 APN 6 113447601 missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07