Incidental Mutation 'R8868:Ifi27l2a'
ID 676099
Institutional Source Beutler Lab
Gene Symbol Ifi27l2a
Ensembl Gene ENSMUSG00000079017
Gene Name interferon, alpha-inducible protein 27 like 2A
Synonyms Ifi27, 2310061N23Rik
MMRRC Submission 068683-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8868 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 103408426-103409939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103402899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 66 (S66P)
Ref Sequence ENSEMBL: ENSMUSP00000082142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066701] [ENSMUST00000076702] [ENSMUST00000076788] [ENSMUST00000079294] [ENSMUST00000085065] [ENSMUST00000140838]
AlphaFold Q8R412
Predicted Effect possibly damaging
Transcript: ENSMUST00000066701
AA Change: S66P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068729
Gene: ENSMUSG00000064215
AA Change: S66P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Pfam:Ifi-6-16 85 167 2.6e-33 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000076702
AA Change: S66P
SMART Domains Protein: ENSMUSP00000075994
Gene: ENSMUSG00000064215
AA Change: S66P

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
Pfam:Ifi-6-16 73 157 7.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076788
SMART Domains Protein: ENSMUSP00000076068
Gene: ENSMUSG00000064215

DomainStartEndE-ValueType
Pfam:Ifi-6-16 35 117 7.2e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000079294
AA Change: S66P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078275
Gene: ENSMUSG00000064215
AA Change: S66P

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
Pfam:Ifi-6-16 122 202 8e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000085065
AA Change: S66P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082142
Gene: ENSMUSG00000064215
AA Change: S66P

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
Pfam:Ifi-6-16 132 210 1.8e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140838
AA Change: S66P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117403
Gene: ENSMUSG00000064215
AA Change: S66P

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to infection with H1N1 or H7N7 influenza A virus, although sloughing of dead cells into bronchiolar lumen persists somewhat longer after infection than in infected controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 T A 9: 26,890,544 (GRCm39) N255Y probably damaging Het
Accsl A C 2: 93,696,490 (GRCm39) L36R probably benign Het
Acvr2a T A 2: 48,763,469 (GRCm39) V171E probably benign Het
Adgrl3 A G 5: 81,794,451 (GRCm39) I491V probably benign Het
Ak9 G A 10: 41,193,842 (GRCm39) probably null Het
Ak9 G T 10: 41,258,869 (GRCm39) E789* probably null Het
Akr1c19 T A 13: 4,293,070 (GRCm39) N275K probably benign Het
Alg1 A G 16: 5,061,557 (GRCm39) H398R probably benign Het
Apol11a T A 15: 77,401,209 (GRCm39) I232N probably damaging Het
Cacnb2 A G 2: 14,989,080 (GRCm39) I437V probably benign Het
Catsper4 A G 4: 133,954,417 (GRCm39) probably null Het
Cdhr17 G A 5: 17,028,152 (GRCm39) G449D probably benign Het
Crnn T C 3: 93,055,609 (GRCm39) C132R probably benign Het
Cyp4a14 T A 4: 115,348,553 (GRCm39) H337L probably damaging Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
Dclre1b T C 3: 103,710,654 (GRCm39) N419S probably benign Het
Dip2c A G 13: 9,625,503 (GRCm39) D621G possibly damaging Het
Dmwd T A 7: 18,814,694 (GRCm39) L448Q probably damaging Het
Dnajc13 G A 9: 104,042,987 (GRCm39) H1922Y probably benign Het
E2f3 A T 13: 30,095,301 (GRCm39) I329N probably damaging Het
Eml2 G A 7: 18,927,988 (GRCm39) V266M probably benign Het
Entpd2 A G 2: 25,289,725 (GRCm39) T376A probably benign Het
Flnb A G 14: 7,908,671 (GRCm38) T1350A probably benign Het
Fmnl2 A G 2: 53,016,077 (GRCm39) E999G unknown Het
Hivep1 A G 13: 42,312,407 (GRCm39) Q1549R possibly damaging Het
Hps6 G A 19: 45,992,446 (GRCm39) V128M possibly damaging Het
Ikbip T C 10: 90,932,187 (GRCm39) V277A possibly damaging Het
Ints8 T C 4: 11,230,488 (GRCm39) E451G probably benign Het
Itih2 A T 2: 10,132,600 (GRCm39) S64T probably benign Het
Kcnc4 T A 3: 107,355,452 (GRCm39) E332V probably damaging Het
Krt23 T C 11: 99,374,567 (GRCm39) probably benign Het
Lrpprc C A 17: 85,078,920 (GRCm39) G265C probably damaging Het
Nav1 G T 1: 135,512,943 (GRCm39) A39E probably benign Het
Ogfod1 G T 8: 94,773,906 (GRCm39) D103Y probably damaging Het
Or7g20 T G 9: 18,946,778 (GRCm39) Y120D probably damaging Het
Or8b55 G A 9: 38,727,285 (GRCm39) C162Y probably damaging Het
Or8g37 A G 9: 39,731,252 (GRCm39) T106A probably benign Het
Ppp1r3a A T 6: 14,755,014 (GRCm39) S78T probably damaging Het
Rnf148 A T 6: 23,654,540 (GRCm39) V152E probably damaging Het
Sdf2 A T 11: 78,136,970 (GRCm39) H50L probably damaging Het
Sec1 T A 7: 45,328,700 (GRCm39) M116L probably benign Het
Sema6d T C 2: 124,496,114 (GRCm39) S53P probably damaging Het
Siae A G 9: 37,528,132 (GRCm39) Y35C probably damaging Het
Slc18b1 A T 10: 23,686,751 (GRCm39) Y189F probably damaging Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Spef2 T C 15: 9,729,747 (GRCm39) T124A possibly damaging Het
Strn4 G A 7: 16,560,570 (GRCm39) E241K probably benign Het
Svep1 A G 4: 58,135,578 (GRCm39) I510T possibly damaging Het
Svop T C 5: 114,170,854 (GRCm39) D395G probably damaging Het
Tbc1d14 A C 5: 36,728,888 (GRCm39) S159R probably damaging Het
Tex50 T A 1: 160,984,848 (GRCm39) I131F possibly damaging Het
Tssk1 A G 16: 17,712,884 (GRCm39) K223R probably benign Het
Ttc3 A G 16: 94,252,002 (GRCm39) I1565V probably benign Het
Ttn A T 2: 76,541,938 (GRCm39) F33683I possibly damaging Het
Ttn T C 2: 76,783,470 (GRCm39) M887V unknown Het
Usp45 G A 4: 21,815,399 (GRCm39) probably null Het
Wdr47 C T 3: 108,498,841 (GRCm39) probably benign Het
Xirp1 A G 9: 119,846,871 (GRCm39) S671P probably benign Het
Zbtb18 A G 1: 177,274,682 (GRCm39) D5G probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp260 T G 7: 29,804,914 (GRCm39) Y271* probably null Het
Zfp369 T A 13: 65,445,082 (GRCm39) S742T possibly damaging Het
Zfp786 A T 6: 47,802,015 (GRCm39) D87E probably damaging Het
Other mutations in Ifi27l2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Ifi27l2a APN 12 103,403,792 (GRCm39) unclassified probably benign
IGL01872:Ifi27l2a APN 12 103,401,719 (GRCm39) missense probably damaging 0.99
IGL03061:Ifi27l2a APN 12 103,401,803 (GRCm39) missense possibly damaging 0.85
IGL03402:Ifi27l2a APN 12 103,405,772 (GRCm39) missense probably damaging 1.00
R0924:Ifi27l2a UTSW 12 103,408,639 (GRCm39) missense probably damaging 0.99
R1428:Ifi27l2a UTSW 12 103,409,093 (GRCm39) unclassified probably benign
R1712:Ifi27l2a UTSW 12 103,406,202 (GRCm39) splice site probably null
R1763:Ifi27l2a UTSW 12 103,403,941 (GRCm39) missense possibly damaging 0.80
R6883:Ifi27l2a UTSW 12 103,409,756 (GRCm39) unclassified probably benign
R8325:Ifi27l2a UTSW 12 103,409,144 (GRCm39) missense unknown
R9149:Ifi27l2a UTSW 12 103,405,678 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTTCTCACACTTAGAAATGAGGCTC -3'
(R):5'- GGCTAGCAATTAAGATGTGAATGC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GATGTGAATGCATGCAATAAAGTTC -3'
Posted On 2021-07-15