Incidental Mutation 'R1161:Ifit1bl1'
ID 100433
Institutional Source Beutler Lab
Gene Symbol Ifit1bl1
Ensembl Gene ENSMUSG00000079339
Gene Name interferon induced protein with tetratricpeptide repeats 1B like 1
Synonyms Gm14446
MMRRC Submission 039234-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1161 (G1)
Quality Score 176
Status Not validated
Chromosome 19
Chromosomal Location 34570291-34579356 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34571096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 454 (S454P)
Ref Sequence ENSEMBL: ENSMUSP00000132781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102825] [ENSMUST00000112467] [ENSMUST00000168254]
AlphaFold D3Z6F0
Predicted Effect probably benign
Transcript: ENSMUST00000102825
SMART Domains Protein: ENSMUSP00000099889
Gene: ENSMUSG00000074896

DomainStartEndE-ValueType
TPR 51 84 7.69e1 SMART
TPR 94 127 2.84e1 SMART
TPR 136 169 5.69e0 SMART
Blast:TPR 170 206 6e-6 BLAST
low complexity region 209 218 N/A INTRINSIC
TPR 241 274 1.02e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112467
AA Change: S454P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108086
Gene: ENSMUSG00000079339
AA Change: S454P

DomainStartEndE-ValueType
TPR 60 93 3.41e1 SMART
TPR 100 133 6.24e1 SMART
TPR 146 179 3.69e1 SMART
low complexity region 217 231 N/A INTRINSIC
TPR 249 282 6.75e1 SMART
TPR 338 371 1.64e1 SMART
low complexity region 417 429 N/A INTRINSIC
TPR 433 466 1.08e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168254
AA Change: S454P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132781
Gene: ENSMUSG00000079339
AA Change: S454P

DomainStartEndE-ValueType
TPR 60 93 3.41e1 SMART
TPR 100 133 6.24e1 SMART
TPR 146 179 3.69e1 SMART
low complexity region 217 231 N/A INTRINSIC
TPR 249 282 6.75e1 SMART
TPR 338 371 1.64e1 SMART
low complexity region 417 429 N/A INTRINSIC
TPR 433 466 1.08e1 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.7%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl10 T G 3: 145,636,180 (GRCm39) V26G probably damaging Het
C4b A G 17: 34,948,567 (GRCm39) V1581A probably damaging Het
Camk1g T C 1: 193,030,662 (GRCm39) D349G probably benign Het
Ccdc106 G A 7: 5,062,539 (GRCm39) D11N possibly damaging Het
Ckap5 T G 2: 91,429,720 (GRCm39) L1464R probably null Het
Def6 G A 17: 28,436,593 (GRCm39) V86I probably benign Het
Dnm3 T A 1: 162,181,143 (GRCm39) T179S probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eme1 G A 11: 94,536,368 (GRCm39) R534C probably damaging Het
Fhip1a A G 3: 85,579,775 (GRCm39) I810T probably damaging Het
Fzd3 G A 14: 65,449,537 (GRCm39) R514C probably damaging Het
H2-T24 G T 17: 36,325,888 (GRCm39) Y234* probably null Het
Ipcef1 T A 10: 6,930,288 (GRCm39) probably null Het
Mmel1 C T 4: 154,979,671 (GRCm39) R764C probably damaging Het
Or7e166 A G 9: 19,624,476 (GRCm39) M118V probably damaging Het
Pde4c A G 8: 71,202,572 (GRCm39) D592G possibly damaging Het
Prx T C 7: 27,219,102 (GRCm39) F1340S probably damaging Het
Rgs7 T C 1: 174,907,021 (GRCm39) T90A probably damaging Het
Scn11a C T 9: 119,584,123 (GRCm39) W1497* probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Srrm3 CAAGAAGAAGAAGAA CAAGAAGAAGAA 5: 135,883,246 (GRCm39) probably benign Het
Svep1 T A 4: 58,069,416 (GRCm39) Y2790F possibly damaging Het
Tmeff2 T C 1: 51,220,946 (GRCm39) V307A probably damaging Het
Tmem38a T A 8: 73,333,814 (GRCm39) F98I probably damaging Het
Trp73 A G 4: 154,165,780 (GRCm39) probably null Het
Usp29 A G 7: 6,964,529 (GRCm39) E124G probably damaging Het
Other mutations in Ifit1bl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4544001:Ifit1bl1 UTSW 19 34,571,415 (GRCm39) missense possibly damaging 0.79
R0420:Ifit1bl1 UTSW 19 34,571,914 (GRCm39) missense probably damaging 1.00
R1310:Ifit1bl1 UTSW 19 34,571,096 (GRCm39) missense possibly damaging 0.80
R1483:Ifit1bl1 UTSW 19 34,572,041 (GRCm39) missense possibly damaging 0.88
R1606:Ifit1bl1 UTSW 19 34,571,444 (GRCm39) missense probably benign 0.00
R1753:Ifit1bl1 UTSW 19 34,571,260 (GRCm39) missense probably benign 0.15
R1778:Ifit1bl1 UTSW 19 34,571,593 (GRCm39) missense probably damaging 1.00
R2204:Ifit1bl1 UTSW 19 34,571,741 (GRCm39) missense probably benign 0.23
R2205:Ifit1bl1 UTSW 19 34,571,741 (GRCm39) missense probably benign 0.23
R2442:Ifit1bl1 UTSW 19 34,572,289 (GRCm39) missense probably benign 0.00
R2858:Ifit1bl1 UTSW 19 34,571,722 (GRCm39) missense probably benign 0.01
R3422:Ifit1bl1 UTSW 19 34,571,350 (GRCm39) missense probably benign 0.04
R4081:Ifit1bl1 UTSW 19 34,572,040 (GRCm39) missense possibly damaging 0.63
R4125:Ifit1bl1 UTSW 19 34,572,188 (GRCm39) missense probably damaging 0.99
R4616:Ifit1bl1 UTSW 19 34,572,010 (GRCm39) missense probably damaging 1.00
R4731:Ifit1bl1 UTSW 19 34,571,721 (GRCm39) missense probably benign 0.02
R4732:Ifit1bl1 UTSW 19 34,571,721 (GRCm39) missense probably benign 0.02
R4849:Ifit1bl1 UTSW 19 34,572,076 (GRCm39) missense probably damaging 1.00
R5026:Ifit1bl1 UTSW 19 34,571,293 (GRCm39) missense probably damaging 1.00
R5049:Ifit1bl1 UTSW 19 34,571,481 (GRCm39) nonsense probably null
R5414:Ifit1bl1 UTSW 19 34,571,324 (GRCm39) missense probably damaging 0.99
R5561:Ifit1bl1 UTSW 19 34,571,197 (GRCm39) nonsense probably null
R5586:Ifit1bl1 UTSW 19 34,571,677 (GRCm39) missense probably damaging 0.98
R6345:Ifit1bl1 UTSW 19 34,571,570 (GRCm39) nonsense probably null
R6382:Ifit1bl1 UTSW 19 34,572,283 (GRCm39) missense probably benign 0.16
R6515:Ifit1bl1 UTSW 19 34,571,899 (GRCm39) missense probably damaging 1.00
R7073:Ifit1bl1 UTSW 19 34,576,667 (GRCm39) critical splice donor site probably null
R7180:Ifit1bl1 UTSW 19 34,571,302 (GRCm39) missense probably damaging 1.00
R7210:Ifit1bl1 UTSW 19 34,571,564 (GRCm39) missense probably benign 0.00
R7665:Ifit1bl1 UTSW 19 34,572,283 (GRCm39) missense probably benign 0.16
R7724:Ifit1bl1 UTSW 19 34,571,405 (GRCm39) missense probably benign 0.00
R7783:Ifit1bl1 UTSW 19 34,571,336 (GRCm39) missense probably benign 0.01
R7944:Ifit1bl1 UTSW 19 34,571,224 (GRCm39) missense probably benign 0.00
R8251:Ifit1bl1 UTSW 19 34,572,232 (GRCm39) missense possibly damaging 0.85
R8427:Ifit1bl1 UTSW 19 34,576,666 (GRCm39) critical splice donor site probably null
R8474:Ifit1bl1 UTSW 19 34,572,262 (GRCm39) missense probably damaging 1.00
R8933:Ifit1bl1 UTSW 19 34,571,413 (GRCm39) missense probably damaging 0.99
R9095:Ifit1bl1 UTSW 19 34,571,899 (GRCm39) missense probably damaging 1.00
R9282:Ifit1bl1 UTSW 19 34,571,908 (GRCm39) missense probably benign 0.28
R9314:Ifit1bl1 UTSW 19 34,576,693 (GRCm39) missense probably benign 0.08
R9432:Ifit1bl1 UTSW 19 34,571,498 (GRCm39) missense possibly damaging 0.86
Predicted Primers
Posted On 2014-01-15