Incidental Mutation 'R6198:Ifi203'
ID 503012
Institutional Source Beutler Lab
Gene Symbol Ifi203
Ensembl Gene ENSMUSG00000039997
Gene Name interferon activated gene 203
Synonyms
MMRRC Submission 044338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6198 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 173747973-173770238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173751648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 391 (M391K)
Ref Sequence ENSEMBL: ENSMUSP00000114221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042228] [ENSMUST00000081216] [ENSMUST00000111210] [ENSMUST00000123708] [ENSMUST00000129829] [ENSMUST00000156895]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000042228
AA Change: M391K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: M391K

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: M343K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
AA Change: M343K

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: M343K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
AA Change: M343K

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: M805K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: M805K

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 probably damaging
Transcript: ENSMUST00000156895
AA Change: M391K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: M391K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acsbg3 A G 17: 57,189,679 (GRCm39) S265G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Bcas3 A T 11: 85,400,261 (GRCm39) D410V probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Elf2 A T 3: 51,184,670 (GRCm39) L5Q probably damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Itih2 A G 2: 10,103,352 (GRCm39) Y712H probably benign Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nckap5l T C 15: 99,323,869 (GRCm39) K878R probably damaging Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Setd3 T C 12: 108,131,427 (GRCm39) K7E possibly damaging Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Tmem63b C T 17: 45,972,442 (GRCm39) V722I probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y probably benign 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
R4233:Ifi203 UTSW 1 173,764,099 (GRCm39) missense possibly damaging 0.92
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
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'- CGGTCCATGATCCTTACAACAG -3'
(R):5'- ACCATAGTTGCCTTGTGGGG -3'

Sequencing Primer
(F):5'- CTGCTTTCGTAAATGGGAAAGTTTTC -3'
(R):5'- ATAGTTGCCTTGTGGGGGACAG -3'
Posted On 2018-02-27