Incidental Mutation 'RF010:Ifi213'
ID 603109
Institutional Source Beutler Lab
Gene Symbol Ifi213
Ensembl Gene ENSMUSG00000073491
Gene Name interferon activated gene 213
Synonyms Pyr-A, Pydc4, E030037K03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # RF010 (G1)
Quality Score 186.009
Status Not validated
Chromosome 1
Chromosomal Location 173393849-173426840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 173409719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 462 (D462H)
Ref Sequence ENSEMBL: ENSMUSP00000117222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000150649]
AlphaFold D3Z5G0
Predicted Effect probably damaging
Transcript: ENSMUST00000150649
AA Change: D462H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117222
Gene: ENSMUSG00000073491
AA Change: D462H

DomainStartEndE-ValueType
PYRIN 10 88 3.71e-20 SMART
low complexity region 101 112 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG 17: 35,879,473 (GRCm39) probably benign Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Ankrd28 A G 14: 31,500,943 (GRCm39) I16T probably damaging Het
AY761185 GCACTGTGGGC G 8: 21,433,927 (GRCm39) probably null Het
Bend3 T A 10: 43,386,180 (GRCm39) F191Y possibly damaging Het
Calhm1 GTGGC GTGGCTGTGGCTATGGC 19: 47,129,712 (GRCm39) probably benign Het
Camkv CGCTGCTGC CGC 9: 107,825,059 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,662 (GRCm39) probably benign Het
Cngb1 CTCTGGCTCTGGCTCTGGCTCTG C 8: 96,030,278 (GRCm39) probably null Het
Cnot3 T C 7: 3,659,068 (GRCm39) V438A probably benign Het
Cntnap5c T A 17: 58,593,790 (GRCm39) W710R probably damaging Het
Dyrk1a A G 16: 94,478,422 (GRCm39) S404G probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Flywch1 GTGT GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT 17: 23,981,149 (GRCm39) probably null Het
Fmn2 T A 1: 174,409,581 (GRCm39) S605T unknown Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,666 (GRCm39) probably benign Het
Gli3 A G 13: 15,900,954 (GRCm39) Y1447C probably damaging Het
Hibch T C 1: 52,952,891 (GRCm39) V297A probably benign Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lce1m GCTGCTGCC GCTGCTGCCCCCACTGCTGCC 3: 92,925,597 (GRCm39) probably benign Het
Lpo A G 11: 87,711,928 (GRCm39) V43A probably benign Het
Map1a A AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Mapk9 A G 11: 49,745,083 (GRCm39) probably benign Het
Mep1a G A 17: 43,797,126 (GRCm39) H314Y probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myh3 AC ACTTCC 11: 66,977,185 (GRCm39) probably null Het
Nusap1 ACGTTAGCAGTGAGGAGCAA ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA 2: 119,458,065 (GRCm39) probably benign Het
Or10ag56 T A 2: 87,139,184 (GRCm39) V37E possibly damaging Het
Or14a259 T C 7: 86,012,594 (GRCm39) Q317R probably benign Het
Pdcd11 AGGAGG A 19: 47,101,890 (GRCm39) probably null Het
Pfkm T A 15: 98,027,674 (GRCm39) I651N possibly damaging Het
Phldb3 CCCCCGCCCC CCCCC 7: 24,325,920 (GRCm39) probably null Het
Polr1has CACCACCAC CACCACCACCACCACCACCACTACCACCAC 17: 37,275,955 (GRCm39) probably benign Het
Prkce T C 17: 86,795,627 (GRCm39) V288A probably damaging Het
Pxmp4 A G 2: 154,434,183 (GRCm39) S93P probably damaging Het
Rfc4 T C 16: 22,946,232 (GRCm39) T17A probably benign Het
Rfx4 CTCTCTCT CTCTCTCTCTCTCTCTATCTCTCT 10: 84,694,351 (GRCm39) probably benign Het
Ryr3 G T 2: 112,606,015 (GRCm39) A2415E probably damaging Het
Sbp ACAAAGATGCTGACAACAAAGATGCTGACA ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA 17: 24,164,325 (GRCm39) probably benign Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Sec63 C A 10: 42,682,620 (GRCm39) A437E probably benign Het
Six3 GCG GCGTCG 17: 85,928,783 (GRCm39) probably benign Het
Slco5a1 G A 1: 12,942,171 (GRCm39) T825I probably damaging Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCGAG 5: 77,164,274 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,123 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,711,927 (GRCm39) V30A probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Syne1 T A 10: 5,196,386 (GRCm39) D3882V possibly damaging Het
T A G 17: 8,660,540 (GRCm39) T384A probably benign Het
Tbc1d12 CGGGGCGG CG 19: 38,825,384 (GRCm39) probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,816 (GRCm39) probably benign Het
Tcstv5 A T 13: 120,411,582 (GRCm39) V8E probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,032 (GRCm39) probably benign Het
Thumpd3 C T 6: 113,033,006 (GRCm39) A248V probably damaging Het
Tlcd4 T A 3: 121,022,533 (GRCm39) I103L probably benign Het
Tmem181a T C 17: 6,330,978 (GRCm39) probably null Het
Trim41 A T 11: 48,698,165 (GRCm39) H600Q probably damaging Het
Ttbk2 A T 2: 120,620,820 (GRCm39) C147* probably null Het
Ttll2 C T 17: 7,618,737 (GRCm39) A397T probably benign Het
Unc79 T A 12: 103,079,046 (GRCm39) L1737Q probably benign Het
Usp47 T A 7: 111,692,145 (GRCm39) V869E probably damaging Het
Vmn1r231 T A 17: 21,110,255 (GRCm39) Q220L probably damaging Het
Vmn2r26 C T 6: 124,016,448 (GRCm39) T304I possibly damaging Het
Wrn T C 8: 33,778,793 (GRCm39) N839S probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp384 GGCCCAGG GGCCCAGGAGCACGCCCAGG 6: 125,013,451 (GRCm39) probably benign Het
Zfyve26 C T 12: 79,302,112 (GRCm39) C1828Y probably damaging Het
Other mutations in Ifi213
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Ifi213 APN 1 173,421,619 (GRCm39) splice site probably benign
IGL00908:Ifi213 APN 1 173,422,649 (GRCm39) missense probably damaging 1.00
IGL00964:Ifi213 APN 1 173,421,518 (GRCm39) missense possibly damaging 0.91
IGL02217:Ifi213 APN 1 173,422,598 (GRCm39) missense possibly damaging 0.91
R0709:Ifi213 UTSW 1 173,417,366 (GRCm39) missense possibly damaging 0.70
R1518:Ifi213 UTSW 1 173,417,229 (GRCm39) missense probably damaging 0.99
R1559:Ifi213 UTSW 1 173,394,784 (GRCm39) missense probably benign 0.18
R1822:Ifi213 UTSW 1 173,417,408 (GRCm39) missense probably damaging 0.99
R1839:Ifi213 UTSW 1 173,417,166 (GRCm39) missense probably damaging 0.98
R1989:Ifi213 UTSW 1 173,396,374 (GRCm39) critical splice donor site probably null
R2108:Ifi213 UTSW 1 173,396,668 (GRCm39) critical splice acceptor site probably null
R2696:Ifi213 UTSW 1 173,417,590 (GRCm39) missense probably benign
R3890:Ifi213 UTSW 1 173,394,822 (GRCm39) missense probably benign 0.33
R4544:Ifi213 UTSW 1 173,409,693 (GRCm39) splice site probably null
R4611:Ifi213 UTSW 1 173,417,480 (GRCm39) missense possibly damaging 0.91
R4689:Ifi213 UTSW 1 173,417,986 (GRCm39) missense possibly damaging 0.92
R4710:Ifi213 UTSW 1 173,394,738 (GRCm39) utr 3 prime probably benign
R5126:Ifi213 UTSW 1 173,417,581 (GRCm39) missense possibly damaging 0.85
R5472:Ifi213 UTSW 1 173,394,838 (GRCm39) splice site probably null
R5625:Ifi213 UTSW 1 173,396,629 (GRCm39) missense possibly damaging 0.73
R5789:Ifi213 UTSW 1 173,396,360 (GRCm39) splice site probably benign
R5898:Ifi213 UTSW 1 173,396,545 (GRCm39) missense probably benign 0.01
R6025:Ifi213 UTSW 1 173,422,800 (GRCm39) missense probably damaging 0.99
R6149:Ifi213 UTSW 1 173,421,581 (GRCm39) missense probably benign 0.18
R6348:Ifi213 UTSW 1 173,417,848 (GRCm39) missense possibly damaging 0.46
R6564:Ifi213 UTSW 1 173,422,862 (GRCm39) start codon destroyed probably null 0.06
R7254:Ifi213 UTSW 1 173,421,529 (GRCm39) missense probably damaging 0.98
R7292:Ifi213 UTSW 1 173,422,691 (GRCm39) missense probably damaging 0.99
R7752:Ifi213 UTSW 1 173,394,784 (GRCm39) missense probably benign 0.18
R7901:Ifi213 UTSW 1 173,394,784 (GRCm39) missense probably benign 0.18
R8100:Ifi213 UTSW 1 173,422,748 (GRCm39) missense probably damaging 1.00
R8352:Ifi213 UTSW 1 173,422,835 (GRCm39) missense possibly damaging 0.92
R8425:Ifi213 UTSW 1 173,417,426 (GRCm39) missense probably benign
R8452:Ifi213 UTSW 1 173,422,835 (GRCm39) missense possibly damaging 0.92
R9357:Ifi213 UTSW 1 173,396,392 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTTCTGATCATCAAAGGGCTCT -3'
(R):5'- ATTACCGAATTCCTGGTTCACCA -3'

Sequencing Primer
(F):5'- GGAGCTTCCTCTGCAAGAAATTC -3'
(R):5'- TCACCATGGGTTGTGGGACC -3'
Posted On 2019-12-04