Incidental Mutation 'R4233:Ifi203'
ID 320942
Institutional Source Beutler Lab
Gene Symbol Ifi203
Ensembl Gene ENSMUSG00000039997
Gene Name interferon activated gene 203
Synonyms
MMRRC Submission 041642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4233 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 173747973-173770238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173764099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 124 (S124R)
Ref Sequence ENSEMBL: ENSMUSP00000122424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042228] [ENSMUST00000081216] [ENSMUST00000111210] [ENSMUST00000123708] [ENSMUST00000129829] [ENSMUST00000156895]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000042228
AA Change: S124R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: S124R

DomainStartEndE-ValueType
PYRIN 6 84 1.01e-21 SMART
low complexity region 133 150 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
Pfam:HIN 251 418 1.5e-77 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000081216
AA Change: S124R

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
AA Change: S124R

DomainStartEndE-ValueType
PYRIN 6 84 1.01e-21 SMART
low complexity region 133 150 N/A INTRINSIC
low complexity region 174 183 N/A INTRINSIC
Pfam:HIN 203 370 1.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111210
SMART Domains Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272

DomainStartEndE-ValueType
PYRIN 5 83 3.71e-20 SMART
internal_repeat_1 152 166 2.38e-7 PROSPERO
low complexity region 170 200 N/A INTRINSIC
internal_repeat_1 208 222 2.38e-7 PROSPERO
low complexity region 225 249 N/A INTRINSIC
low complexity region 276 292 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
Pfam:HIN 311 479 3.4e-76 PFAM
low complexity region 497 507 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123708
AA Change: S124R

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
AA Change: S124R

DomainStartEndE-ValueType
PYRIN 6 84 1.01e-21 SMART
low complexity region 133 150 N/A INTRINSIC
low complexity region 174 183 N/A INTRINSIC
Pfam:HIN 203 370 1.3e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128430
Predicted Effect possibly damaging
Transcript: ENSMUST00000129829
AA Change: S124R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: S124R

DomainStartEndE-ValueType
PYRIN 6 84 1.01e-21 SMART
low complexity region 133 150 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
low complexity region 607 623 N/A INTRINSIC
Pfam:HIN 665 831 7.2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138143
Predicted Effect possibly damaging
Transcript: ENSMUST00000156895
AA Change: S124R

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: S124R

DomainStartEndE-ValueType
PYRIN 6 84 1.01e-21 SMART
low complexity region 133 150 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
Pfam:HIN 251 418 1.5e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140143
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,454 (GRCm39) Y96N probably damaging Het
Abca15 C T 7: 120,002,202 (GRCm39) Q1572* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aph1c A G 9: 66,740,603 (GRCm39) F41S probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Arhgef40 T C 14: 52,227,628 (GRCm39) V458A possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Ccar2 T C 14: 70,388,540 (GRCm39) T169A possibly damaging Het
Cfap58 G A 19: 47,963,994 (GRCm39) V541M possibly damaging Het
Coro2b T C 9: 62,333,467 (GRCm39) E376G possibly damaging Het
Dnah11 T C 12: 117,880,526 (GRCm39) T3865A probably damaging Het
Dync2h1 T C 9: 7,134,360 (GRCm39) E1549G probably benign Het
Ercc6l2 T C 13: 64,019,982 (GRCm39) probably benign Het
Fbxo32 G T 15: 58,055,729 (GRCm39) T135K possibly damaging Het
Fhip2b A C 14: 70,824,318 (GRCm39) V473G probably damaging Het
Fras1 A T 5: 96,862,235 (GRCm39) I2205F possibly damaging Het
Gm12034 A G 11: 20,396,785 (GRCm39) noncoding transcript Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Gm5108 C A 5: 68,132,496 (GRCm39) T55K unknown Het
Gpa33 A T 1: 165,974,340 (GRCm39) D59V probably damaging Het
Gpn2 T A 4: 133,312,016 (GRCm39) Y83N probably damaging Het
Gzf1 C T 2: 148,528,453 (GRCm39) P460S possibly damaging Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ldlrap1 T A 4: 134,484,649 (GRCm39) probably null Het
Madd T C 2: 91,008,581 (GRCm39) E107G probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or52n4 A G 7: 104,294,195 (GRCm39) V126A probably benign Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A T 1: 97,792,119 (GRCm39) V434D possibly damaging Het
Plxnd1 T C 6: 115,942,914 (GRCm39) N1257D probably benign Het
Prkdc C T 16: 15,653,783 (GRCm39) A3870V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 T C 13: 11,765,611 (GRCm39) D1375G probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc13a2 A G 11: 78,294,361 (GRCm39) probably benign Het
Slc7a13 T C 4: 19,819,070 (GRCm39) F90S probably damaging Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Stard13 A G 5: 150,986,164 (GRCm39) S331P probably benign Het
Sult2a8 T A 7: 14,147,608 (GRCm39) I228L probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tshz1 C A 18: 84,034,320 (GRCm39) E29D probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Ifi203
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Ifi203 APN 1 173,765,306 (GRCm39) critical splice donor site probably null
IGL02598:Ifi203 APN 1 173,762,568 (GRCm39) splice site probably benign
IGL03172:Ifi203 APN 1 173,764,158 (GRCm39) missense possibly damaging 0.94
IGL03334:Ifi203 APN 1 173,765,401 (GRCm39) nonsense probably null
FR4304:Ifi203 UTSW 1 173,755,894 (GRCm39) intron probably benign
R0593:Ifi203 UTSW 1 173,756,215 (GRCm39) intron probably benign
R0827:Ifi203 UTSW 1 173,756,029 (GRCm39) intron probably benign
R1163:Ifi203 UTSW 1 173,751,703 (GRCm39) missense probably damaging 0.98
R1769:Ifi203 UTSW 1 173,756,326 (GRCm39) nonsense probably null
R3415:Ifi203 UTSW 1 173,756,326 (GRCm39) nonsense probably null
R3737:Ifi203 UTSW 1 173,757,040 (GRCm39) intron probably benign
R3738:Ifi203 UTSW 1 173,757,040 (GRCm39) intron probably benign
R3739:Ifi203 UTSW 1 173,757,040 (GRCm39) intron probably benign
R3791:Ifi203 UTSW 1 173,762,646 (GRCm39) missense possibly damaging 0.83
R3847:Ifi203 UTSW 1 173,761,362 (GRCm39) missense possibly damaging 0.84
R4035:Ifi203 UTSW 1 173,757,040 (GRCm39) intron probably benign
R4156:Ifi203 UTSW 1 173,764,106 (GRCm39) missense probably damaging 0.98
R4164:Ifi203 UTSW 1 173,756,029 (GRCm39) intron probably benign
R4171:Ifi203 UTSW 1 173,761,341 (GRCm39) splice site probably benign
R4200:Ifi203 UTSW 1 173,751,681 (GRCm39) missense probably damaging 0.99
R4845:Ifi203 UTSW 1 173,754,595 (GRCm39) missense probably benign 0.00
R4880:Ifi203 UTSW 1 173,756,716 (GRCm39) intron probably benign
R5071:Ifi203 UTSW 1 173,762,676 (GRCm39) missense possibly damaging 0.92
R5108:Ifi203 UTSW 1 173,751,580 (GRCm39) missense probably damaging 1.00
R5284:Ifi203 UTSW 1 173,756,274 (GRCm39) intron probably benign
R5335:Ifi203 UTSW 1 173,754,485 (GRCm39) missense possibly damaging 0.71
R6198:Ifi203 UTSW 1 173,751,648 (GRCm39) missense probably damaging 0.97
R6236:Ifi203 UTSW 1 173,761,479 (GRCm39) missense probably benign 0.33
R6397:Ifi203 UTSW 1 173,754,770 (GRCm39) missense probably benign 0.33
R6929:Ifi203 UTSW 1 173,756,340 (GRCm39) intron probably benign
R7025:Ifi203 UTSW 1 173,755,951 (GRCm39) intron probably benign
R7149:Ifi203 UTSW 1 173,756,494 (GRCm39) missense unknown
R7320:Ifi203 UTSW 1 173,756,733 (GRCm39) missense unknown
R7631:Ifi203 UTSW 1 173,754,688 (GRCm39) missense unknown
R7913:Ifi203 UTSW 1 173,754,523 (GRCm39) missense probably damaging 1.00
R8183:Ifi203 UTSW 1 173,756,266 (GRCm39) missense unknown
R8297:Ifi203 UTSW 1 173,765,496 (GRCm39) missense probably damaging 1.00
R8537:Ifi203 UTSW 1 173,756,472 (GRCm39) intron probably benign
R8919:Ifi203 UTSW 1 173,756,494 (GRCm39) missense unknown
R8936:Ifi203 UTSW 1 173,756,857 (GRCm39) intron probably benign
R9081:Ifi203 UTSW 1 173,757,048 (GRCm39) missense unknown
R9223:Ifi203 UTSW 1 173,765,437 (GRCm39) missense probably benign 0.42
R9255:Ifi203 UTSW 1 173,756,787 (GRCm39) missense unknown
R9351:Ifi203 UTSW 1 173,750,133 (GRCm39) missense probably benign 0.33
R9397:Ifi203 UTSW 1 173,765,547 (GRCm39) missense probably damaging 0.99
R9506:Ifi203 UTSW 1 173,751,565 (GRCm39) missense possibly damaging 0.93
R9586:Ifi203 UTSW 1 173,754,623 (GRCm39) nonsense probably null
R9598:Ifi203 UTSW 1 173,751,522 (GRCm39) missense probably damaging 1.00
Z1088:Ifi203 UTSW 1 173,756,147 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GATGTCTCCATCACTGAGGC -3'
(R):5'- GTAATTCTGAATGAGCTGCAGC -3'

Sequencing Primer
(F):5'- ATCACTGAGGCTTATACTGCAC -3'
(R):5'- GCTGCAGCTATCATCCCC -3'
Posted On 2015-06-12