Incidental Mutation 'R0849:Irf2bp1'
ID 77065
Institutional Source Beutler Lab
Gene Symbol Irf2bp1
Ensembl Gene ENSMUSG00000044030
Gene Name interferon regulatory factor 2 binding protein 1
Synonyms 6330414O09Rik
MMRRC Submission 039028-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.658) question?
Stock # R0849 (G1)
Quality Score 214
Status Not validated
Chromosome 7
Chromosomal Location 18737983-18740688 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18738659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 100 (S100P)
Ref Sequence ENSEMBL: ENSMUSP00000061234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053713] [ENSMUST00000059331] [ENSMUST00000131087]
AlphaFold Q8R3Y8
Predicted Effect possibly damaging
Transcript: ENSMUST00000053713
AA Change: S100P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000061234
Gene: ENSMUSG00000044030
AA Change: S100P

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
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T C 12: 52,566,406 (GRCm39) F1126L probably benign Het
Arhgef11 G T 3: 87,643,203 (GRCm39) A1472S probably benign Het
Armc9 G A 1: 86,184,992 (GRCm39) R681K probably benign Het
Atxn2 T A 5: 121,885,484 (GRCm39) probably null Het
B3gnt6 C A 7: 97,843,950 (GRCm39) L3F probably benign Het
Cand2 A G 6: 115,769,352 (GRCm39) T721A probably damaging Het
Cntn2 A T 1: 132,450,124 (GRCm39) M590K probably benign Het
Cntn4 A T 6: 106,644,418 (GRCm39) D622V probably damaging Het
Des T G 1: 75,337,272 (GRCm39) S71A probably benign Het
Dnah5 C A 15: 28,263,745 (GRCm39) R827S probably damaging Het
Dstn G A 2: 143,780,455 (GRCm39) G52S probably benign Het
Eln T A 5: 134,736,835 (GRCm39) R704* probably null Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hs3st2 A G 7: 121,100,255 (GRCm39) E367G possibly damaging Het
Hydin G A 8: 111,325,616 (GRCm39) R4675H probably damaging Het
Inhca A C 9: 103,140,256 (GRCm39) Y488D possibly damaging Het
Itga10 A G 3: 96,559,846 (GRCm39) I500M possibly damaging Het
Kcnt2 T C 1: 140,435,500 (GRCm39) V496A probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mrgprb4 G A 7: 47,848,868 (GRCm39) T20I probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or12e8 G T 2: 87,188,609 (GRCm39) V274L probably benign Het
Or2y10 G A 11: 49,455,129 (GRCm39) C127Y probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Ppfia4 A T 1: 134,247,110 (GRCm39) F537I probably benign Het
Rarb A G 14: 16,434,293 (GRCm38) V295A probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Sv2c C T 13: 96,126,319 (GRCm39) G311D probably damaging Het
Tas2r109 T C 6: 132,957,856 (GRCm39) I25V probably benign Het
Tbcel A C 9: 42,348,453 (GRCm39) I305S probably damaging Het
Tmem35b A G 4: 127,019,990 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Tmtc4 A G 14: 123,182,966 (GRCm39) I244T possibly damaging Het
Usp9y C A Y: 1,394,002 (GRCm39) C576F probably damaging Het
Vcan A T 13: 89,853,072 (GRCm39) N629K possibly damaging Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r-ps158 A G 7: 42,674,142 (GRCm39) Y400C probably damaging Het
Other mutations in Irf2bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Irf2bp1 APN 7 18,739,952 (GRCm39) missense possibly damaging 0.86
IGL01983:Irf2bp1 APN 7 18,739,220 (GRCm39) missense possibly damaging 0.70
R0063:Irf2bp1 UTSW 7 18,739,772 (GRCm39) missense possibly damaging 0.91
R0255:Irf2bp1 UTSW 7 18,738,927 (GRCm39) missense possibly damaging 0.91
R2250:Irf2bp1 UTSW 7 18,739,724 (GRCm39) missense probably benign 0.12
R3972:Irf2bp1 UTSW 7 18,739,369 (GRCm39) missense possibly damaging 0.70
R4703:Irf2bp1 UTSW 7 18,739,496 (GRCm39) missense possibly damaging 0.91
R5290:Irf2bp1 UTSW 7 18,738,923 (GRCm39) missense possibly damaging 0.85
R5729:Irf2bp1 UTSW 7 18,739,172 (GRCm39) nonsense probably null
R5902:Irf2bp1 UTSW 7 18,738,372 (GRCm39) missense probably benign 0.07
R6874:Irf2bp1 UTSW 7 18,739,142 (GRCm39) missense possibly damaging 0.70
R8260:Irf2bp1 UTSW 7 18,740,079 (GRCm39) missense possibly damaging 0.85
R9291:Irf2bp1 UTSW 7 18,738,458 (GRCm39) missense probably damaging 1.00
R9295:Irf2bp1 UTSW 7 18,739,740 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACCTGTGCGACCTGCCCAAGATG -3'
(R):5'- GCTTCTCCTTCTCGAAATCGGAGCC -3'

Sequencing Primer
(F):5'- ACTTCAGCGAGGCTGTG -3'
(R):5'- TTAAGCCAGGTGCCAGC -3'
Posted On 2013-10-16