Incidental Mutation 'R4206:Irf2bpl'
ID 318931
Institutional Source Beutler Lab
Gene Symbol Irf2bpl
Ensembl Gene ENSMUSG00000034168
Gene Name interferon regulatory factor 2 binding protein-like
Synonyms
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R4206 (G1)
Quality Score 181
Status Not validated
Chromosome 12
Chromosomal Location 86880701-86884798 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86883036 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 288 (V288I)
Ref Sequence ENSEMBL: ENSMUSP00000041070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038422]
AlphaFold Q8K3X4
Predicted Effect probably benign
Transcript: ENSMUST00000038422
AA Change: V288I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041070
Gene: ENSMUSG00000034168
AA Change: V288I

DomainStartEndE-ValueType
Pfam:IRF-2BP1_2 10 61 2e-38 PFAM
low complexity region 70 78 N/A INTRINSIC
coiled coil region 84 113 N/A INTRINSIC
low complexity region 169 178 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
low complexity region 214 234 N/A INTRINSIC
low complexity region 258 300 N/A INTRINSIC
coiled coil region 314 350 N/A INTRINSIC
low complexity region 496 519 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
low complexity region 627 646 N/A INTRINSIC
PDB:2CS3|A 684 765 7e-52 PDB
SCOP:d1fbva4 692 738 4e-6 SMART
Blast:RING 694 745 4e-24 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,515 K81R probably benign Het
Acacb T C 5: 114,213,651 F1150L probably benign Het
Acat3 A G 17: 12,927,386 Y237H possibly damaging Het
Arfgap3 T C 15: 83,322,668 T240A probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 118,121,899 probably benign Het
Cabin1 T C 10: 75,754,841 S23G possibly damaging Het
Clasp1 A G 1: 118,578,906 N949S probably damaging Het
Csrp1 T G 1: 135,745,327 C61G probably damaging Het
Dgka A T 10: 128,721,195 L637Q probably damaging Het
Dst G A 1: 34,212,247 R1801H probably damaging Het
Edil3 T C 13: 89,180,278 S284P probably damaging Het
Eif2d A G 1: 131,154,363 Y64C probably damaging Het
Ell2 A G 13: 75,761,948 D139G probably damaging Het
Fam187a A G 11: 102,886,212 R281G probably damaging Het
Gin1 A G 1: 97,792,420 D380G possibly damaging Het
Gpr149 T G 3: 62,604,503 D25A possibly damaging Het
Gyg A G 3: 20,152,737 S90P probably benign Het
Hpx C T 7: 105,595,147 M190I probably null Het
Lyst A G 13: 13,635,989 H748R probably benign Het
Mmrn1 G A 6: 60,958,180 G220D probably damaging Het
Mpdz A T 4: 81,381,762 M333K probably benign Het
Muc5ac C T 7: 141,817,110 S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 84,716,247 probably null Het
Ntsr1 A G 2: 180,500,752 D112G probably damaging Het
Olfr1410 A C 1: 92,608,595 T253P possibly damaging Het
Olfr657 T A 7: 104,636,149 N158K possibly damaging Het
Olfr8 T C 10: 78,955,283 F26S probably benign Het
Parg A G 14: 32,254,536 K178R probably benign Het
Pde8b C A 13: 95,222,545 C90F probably benign Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Rad54l2 A C 9: 106,717,795 V321G probably damaging Het
Rcn2 A G 9: 56,045,207 Y112C possibly damaging Het
Rnf123 A T 9: 108,063,963 D639E probably benign Het
Rufy2 C T 10: 63,004,772 Q441* probably null Het
Scgb2b12 T C 7: 32,326,638 Y43C probably damaging Het
Scrn3 T A 2: 73,319,501 probably null Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc22a8 T C 19: 8,608,233 S321P probably benign Het
Tex11 C A X: 100,933,415 A487S possibly damaging Het
Tex2 A G 11: 106,567,572 probably benign Het
Tmem2 G T 19: 21,842,115 R1090L probably damaging Het
Trip13 A G 13: 73,932,890 I119T probably benign Het
Tsku C T 7: 98,352,998 R42H probably damaging Het
Ttn A G 2: 76,772,567 I16691T possibly damaging Het
Tyr A G 7: 87,429,068 L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 V142A probably damaging Het
Uggt2 C T 14: 119,049,262 D221N probably damaging Het
Wnt4 A G 4: 137,296,343 K207R possibly damaging Het
Zfp608 T C 18: 54,988,195 R107G probably damaging Het
Other mutations in Irf2bpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03343:Irf2bpl APN 12 86882939 missense possibly damaging 0.72
twig UTSW 12 86883464 missense probably benign 0.01
PIT1430001:Irf2bpl UTSW 12 86883455 missense possibly damaging 0.91
R0218:Irf2bpl UTSW 12 86882624 missense probably benign 0.02
R0371:Irf2bpl UTSW 12 86881643 nonsense probably null
R0426:Irf2bpl UTSW 12 86883096 missense probably benign 0.06
R1351:Irf2bpl UTSW 12 86882624 missense probably benign 0.02
R2881:Irf2bpl UTSW 12 86882777 missense probably damaging 0.98
R3610:Irf2bpl UTSW 12 86881857 missense probably benign 0.03
R4240:Irf2bpl UTSW 12 86882917 missense possibly damaging 0.73
R4938:Irf2bpl UTSW 12 86882118 missense possibly damaging 0.73
R5451:Irf2bpl UTSW 12 86882072 missense probably benign 0.33
R6213:Irf2bpl UTSW 12 86883593 missense probably benign 0.18
R6491:Irf2bpl UTSW 12 86883464 missense probably benign 0.01
R6969:Irf2bpl UTSW 12 86882694 missense possibly damaging 0.86
R7151:Irf2bpl UTSW 12 86883353 missense probably benign 0.00
R7649:Irf2bpl UTSW 12 86882798 missense possibly damaging 0.96
R7751:Irf2bpl UTSW 12 86883715 missense probably damaging 0.99
R8711:Irf2bpl UTSW 12 86881722 missense probably benign 0.03
R8857:Irf2bpl UTSW 12 86882585 missense possibly damaging 0.96
X0066:Irf2bpl UTSW 12 86881650 missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- CTTCTTGAAGCGCACCTCGTAG -3'
(R):5'- ACGCATAGTGGGTTGGTGAC -3'

Sequencing Primer
(F):5'- TGTCGCGGACCATCTTGG -3'
(R):5'- GACCTCAGCTAACCGTGC -3'
Posted On 2015-06-10