Incidental Mutation 'IGL01376:Irf2bp1'
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ID78722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf2bp1
Ensembl Gene ENSMUSG00000044030
Gene Nameinterferon regulatory factor 2 binding protein 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.617) question?
Stock #IGL01376
Quality Score
Status
Chromosome7
Chromosomal Location19004044-19006777 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19006027 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 531 (S531P)
Ref Sequence ENSEMBL: ENSMUSP00000061234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053713] [ENSMUST00000059331] [ENSMUST00000131087]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053713
AA Change: S531P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061234
Gene: ENSMUSG00000044030
AA Change: S531P

DomainStartEndE-ValueType
Pfam:IRF-2BP1_2 8 59 9.5e-37 PFAM
low complexity region 82 105 N/A INTRINSIC
low complexity region 114 128 N/A INTRINSIC
low complexity region 139 156 N/A INTRINSIC
low complexity region 165 179 N/A INTRINSIC
low complexity region 441 458 N/A INTRINSIC
low complexity region 481 500 N/A INTRINSIC
Pfam:zf-C3HC4 503 549 1.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059331
SMART Domains Protein: ENSMUSP00000058718
Gene: ENSMUSG00000048481

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
SANT 20 90 4.06e-5 SMART
low complexity region 125 157 N/A INTRINSIC
low complexity region 212 250 N/A INTRINSIC
low complexity region 278 322 N/A INTRINSIC
low complexity region 323 347 N/A INTRINSIC
low complexity region 358 374 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124897
Predicted Effect probably benign
Transcript: ENSMUST00000131087
SMART Domains Protein: ENSMUSP00000117357
Gene: ENSMUSG00000048481

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
SANT 20 90 4.06e-5 SMART
low complexity region 125 157 N/A INTRINSIC
low complexity region 212 250 N/A INTRINSIC
low complexity region 278 322 N/A INTRINSIC
low complexity region 323 347 N/A INTRINSIC
low complexity region 358 374 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206381
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A G 1: 37,628,344 L207P probably damaging Het
4930568D16Rik A T 2: 35,355,628 I61K probably benign Het
Acot12 A G 13: 91,784,671 Y521C probably damaging Het
Anxa7 T C 14: 20,460,456 N313D probably benign Het
Cdk14 T C 5: 5,010,839 I327M probably damaging Het
Clca3b T C 3: 144,826,051 N664S possibly damaging Het
Cpb1 A C 3: 20,270,324 L62R probably benign Het
Eef2 G A 10: 81,178,049 probably benign Het
Enox1 T C 14: 77,251,843 probably benign Het
Esco1 A T 18: 10,594,892 C131* probably null Het
Etv1 A T 12: 38,857,040 D347V probably damaging Het
Fat1 A G 8: 45,026,841 I2975V probably benign Het
Ghsr A G 3: 27,371,828 E11G probably benign Het
Gins4 T C 8: 23,227,327 D166G probably benign Het
Iglv2 G T 16: 19,260,565 H62N possibly damaging Het
Lrig3 T A 10: 125,994,466 F144L probably benign Het
Magi1 C T 6: 94,283,093 R77Q possibly damaging Het
Mlkl A G 8: 111,319,747 L298P probably damaging Het
Ndc1 T C 4: 107,375,197 L193P probably damaging Het
Npas3 A T 12: 54,044,586 T308S probably benign Het
Nt5dc3 A T 10: 86,834,164 Q541L probably benign Het
Olfr1084 A C 2: 86,639,609 V33G probably benign Het
Olfr1115 T C 2: 87,252,873 V312A possibly damaging Het
Parp10 G T 15: 76,241,677 T437K probably benign Het
Phf3 A G 1: 30,830,485 V494A possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Sars2 T A 7: 28,749,883 Y307N probably damaging Het
Serping1 A T 2: 84,770,185 V271E probably damaging Het
Sgpl1 G A 10: 61,114,070 P117S probably damaging Het
Slc38a1 A C 15: 96,585,556 L297R probably damaging Het
Strbp A G 2: 37,645,651 M15T probably damaging Het
Tdp2 A G 13: 24,836,949 probably null Het
Tex10 T C 4: 48,456,740 Y657C possibly damaging Het
Xrcc4 A T 13: 90,062,050 S92T probably benign Het
Other mutations in Irf2bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01983:Irf2bp1 APN 7 19005295 missense possibly damaging 0.70
R0063:Irf2bp1 UTSW 7 19005847 missense possibly damaging 0.91
R0255:Irf2bp1 UTSW 7 19005002 missense possibly damaging 0.91
R0849:Irf2bp1 UTSW 7 19004734 missense possibly damaging 0.73
R2250:Irf2bp1 UTSW 7 19005799 missense probably benign 0.12
R3972:Irf2bp1 UTSW 7 19005444 missense possibly damaging 0.70
R4703:Irf2bp1 UTSW 7 19005571 missense possibly damaging 0.91
R5290:Irf2bp1 UTSW 7 19004998 missense possibly damaging 0.85
R5729:Irf2bp1 UTSW 7 19005247 nonsense probably null
R5902:Irf2bp1 UTSW 7 19004447 missense probably benign 0.07
R6874:Irf2bp1 UTSW 7 19005217 missense possibly damaging 0.70
Posted On2013-11-05