Incidental Mutation 'R6156:Il4i1'
ID 489583
Institutional Source Beutler Lab
Gene Symbol Il4i1
Ensembl Gene ENSMUSG00000074141
Gene Name interleukin 4 induced 1
Synonyms H4, Fig1, H-4, Fig1-ps, H-46, H46
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6156 (G1)
Quality Score 208.009
Status Validated
Chromosome 7
Chromosomal Location 44485712-44490233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44489608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 458 (Y458H)
Ref Sequence ENSEMBL: ENSMUSP00000033015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033015] [ENSMUST00000047085] [ENSMUST00000118125] [ENSMUST00000207293] [ENSMUST00000145959]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033015
AA Change: Y458H

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: Y458H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:AlaDh_PNT_C 42 93 1.3e-9 PFAM
Pfam:Thi4 53 100 1.8e-8 PFAM
Pfam:FAD_binding_3 59 94 1.4e-7 PFAM
Pfam:HI0933_like 59 161 1.3e-8 PFAM
Pfam:FAD_binding_2 60 100 1.5e-8 PFAM
Pfam:Pyr_redox 60 100 1.9e-8 PFAM
Pfam:Pyr_redox_2 60 125 7.3e-8 PFAM
Pfam:DAO 60 140 2.8e-9 PFAM
Pfam:NAD_binding_8 63 130 3.6e-17 PFAM
Pfam:Amino_oxidase 68 503 9.9e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047085
SMART Domains Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520

DomainStartEndE-ValueType
Pfam:DUF3548 3 217 8.2e-93 PFAM
low complexity region 249 259 N/A INTRINSIC
TBC 307 545 3.93e-54 SMART
Blast:TBC 554 594 1e-6 BLAST
low complexity region 597 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118125
AA Change: Y466H

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: Y466H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:AlaDh_PNT_C 47 111 6.6e-9 PFAM
Pfam:Pyr_redox_2 47 111 2e-9 PFAM
Pfam:HI0933_like 67 169 1.8e-8 PFAM
Pfam:FAD_binding_2 68 108 5e-8 PFAM
Pfam:Pyr_redox 68 109 8.5e-8 PFAM
Pfam:DAO 68 159 5.6e-8 PFAM
Pfam:NAD_binding_8 71 138 1.2e-15 PFAM
Pfam:Amino_oxidase 76 511 5.9e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130081
Predicted Effect probably benign
Transcript: ENSMUST00000133279
SMART Domains Protein: ENSMUSP00000133613
Gene: ENSMUSG00000074141

DomainStartEndE-ValueType
PDB:1TDO|A 2 44 1e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000208714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153161
Predicted Effect probably benign
Transcript: ENSMUST00000207293
Predicted Effect probably benign
Transcript: ENSMUST00000145959
SMART Domains Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520

DomainStartEndE-ValueType
Pfam:DUF3548 3 217 5.8e-93 PFAM
low complexity region 249 259 N/A INTRINSIC
TBC 307 544 3.91e-40 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign Het
Other mutations in Il4i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Il4i1 APN 7 44,487,470 (GRCm39) nonsense probably null
IGL03366:Il4i1 APN 7 44,486,919 (GRCm39) unclassified probably benign
R0945:Il4i1 UTSW 7 44,489,128 (GRCm39) missense probably damaging 1.00
R1248:Il4i1 UTSW 7 44,489,213 (GRCm39) missense probably damaging 1.00
R1559:Il4i1 UTSW 7 44,488,811 (GRCm39) missense probably damaging 0.98
R2099:Il4i1 UTSW 7 44,487,616 (GRCm39) critical splice donor site probably null
R2131:Il4i1 UTSW 7 44,489,494 (GRCm39) missense probably damaging 0.98
R2212:Il4i1 UTSW 7 44,486,082 (GRCm39) missense probably damaging 0.99
R2516:Il4i1 UTSW 7 44,489,315 (GRCm39) missense probably damaging 1.00
R2893:Il4i1 UTSW 7 44,487,414 (GRCm39) missense probably damaging 0.98
R3412:Il4i1 UTSW 7 44,486,082 (GRCm39) missense probably damaging 0.99
R3414:Il4i1 UTSW 7 44,486,082 (GRCm39) missense probably damaging 0.99
R5493:Il4i1 UTSW 7 44,489,477 (GRCm39) missense possibly damaging 0.56
R6239:Il4i1 UTSW 7 44,489,836 (GRCm39) missense probably benign
R6422:Il4i1 UTSW 7 44,489,560 (GRCm39) missense probably damaging 0.99
R6813:Il4i1 UTSW 7 44,489,236 (GRCm39) missense probably benign 0.44
R6866:Il4i1 UTSW 7 44,485,963 (GRCm39) critical splice donor site probably null
R7543:Il4i1 UTSW 7 44,486,199 (GRCm39) missense possibly damaging 0.79
R7673:Il4i1 UTSW 7 44,489,786 (GRCm39) missense probably benign
R7965:Il4i1 UTSW 7 44,489,819 (GRCm39) missense probably benign
R8848:Il4i1 UTSW 7 44,489,175 (GRCm39) missense probably damaging 1.00
R9666:Il4i1 UTSW 7 44,489,263 (GRCm39) missense possibly damaging 0.64
R9695:Il4i1 UTSW 7 44,489,033 (GRCm39) missense probably damaging 1.00
R9721:Il4i1 UTSW 7 44,489,113 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCATATTCTATCCCGCGCAGG -3'
(R):5'- TGCATGCTCCATCATCTGGG -3'

Sequencing Primer
(F):5'- AGGGCTCACTGCTTCTGG -3'
(R):5'- TCCATCATCTGGGGGTCGAC -3'
Posted On 2017-10-10