Incidental Mutation 'R7661:Ifit1bl2'
ID 591595
Institutional Source Beutler Lab
Gene Symbol Ifit1bl2
Ensembl Gene ENSMUSG00000067297
Gene Name interferon induced protein with tetratricopeptide repeats 1B like 2
Synonyms 2010002M12Rik
MMRRC Submission 045736-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7661 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 34594449-34618143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34596428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 396 (Y396F)
Ref Sequence ENSEMBL: ENSMUSP00000093816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087357] [ENSMUST00000112463]
AlphaFold Q3U687
Predicted Effect probably damaging
Transcript: ENSMUST00000087357
AA Change: Y396F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
AA Change: Y396F

DomainStartEndE-ValueType
TPR 60 93 2.92e1 SMART
TPR 100 133 6.24e1 SMART
TPR 144 179 4.32e1 SMART
low complexity region 217 230 N/A INTRINSIC
TPR 249 282 2.24e1 SMART
TPR 334 367 4.55e1 SMART
low complexity region 411 421 N/A INTRINSIC
TPR 429 462 1.45e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112463
AA Change: Y396F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
AA Change: Y396F

DomainStartEndE-ValueType
TPR 60 93 2.92e1 SMART
TPR 100 133 6.24e1 SMART
TPR 144 179 4.32e1 SMART
low complexity region 217 230 N/A INTRINSIC
TPR 249 282 2.24e1 SMART
TPR 334 367 4.55e1 SMART
low complexity region 411 421 N/A INTRINSIC
TPR 429 462 1.45e-1 SMART
Meta Mutation Damage Score 0.2432 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik A T 12: 107,455,215 (GRCm39) K100N unknown Het
Abi3bp T A 16: 56,453,263 (GRCm39) probably null Het
Akr1c20 T C 13: 4,558,218 (GRCm39) D210G probably benign Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Ascc1 A C 10: 59,885,629 (GRCm39) N227H probably damaging Het
Atp5f1a G T 18: 77,861,802 (GRCm39) A18S possibly damaging Het
Bcl2l13 A G 6: 120,842,558 (GRCm39) T84A possibly damaging Het
Blmh T A 11: 76,877,341 (GRCm39) V419D probably damaging Het
Cacna1d G A 14: 29,769,177 (GRCm39) P1918S probably benign Het
Calr4 T C 4: 109,110,951 (GRCm39) V339A probably benign Het
Capza3 C A 6: 139,987,498 (GRCm39) D32E probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cldn20 T A 17: 3,583,133 (GRCm39) M102K possibly damaging Het
Dennd1a T C 2: 37,734,841 (GRCm39) Q479R probably benign Het
Dpp10 A T 1: 123,312,681 (GRCm39) I432N probably damaging Het
Dst T A 1: 34,295,434 (GRCm39) probably null Het
Efcab3 T A 11: 104,617,503 (GRCm39) D741E probably benign Het
Fam135a C T 1: 24,111,843 (GRCm39) probably null Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Focad G A 4: 88,221,772 (GRCm39) R714H unknown Het
Hace1 T G 10: 45,481,649 (GRCm39) V124G probably damaging Het
Il22ra2 A G 10: 19,497,826 (GRCm39) I13M probably benign Het
Kif21a A G 15: 90,865,122 (GRCm39) F517L possibly damaging Het
Lrrc4 T C 6: 28,829,762 (GRCm39) T618A probably benign Het
Mdn1 A G 4: 32,691,229 (GRCm39) T952A probably benign Het
Mindy3 A T 2: 12,402,328 (GRCm39) I208K probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 A G 14: 103,450,059 (GRCm39) I1744T probably damaging Het
Nanog A T 6: 122,690,431 (GRCm39) R279W probably damaging Het
Ncoa2 T A 1: 13,244,761 (GRCm39) T646S probably damaging Het
Ndufa5 A G 6: 24,518,724 (GRCm39) *117R probably null Het
Nudt18 A T 14: 70,817,276 (GRCm39) E293D probably benign Het
Or1e22 A G 11: 73,377,426 (GRCm39) S75P probably damaging Het
Or51aa2 A T 7: 103,187,826 (GRCm39) V205E probably damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Pih1d2 T C 9: 50,529,558 (GRCm39) probably null Het
Ppp2r3d A G 9: 124,442,696 (GRCm38) F17L Het
Ptprk T C 10: 28,342,036 (GRCm39) I481T probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Raet1d T C 10: 22,248,156 (GRCm39) S225P possibly damaging Het
Rnf24 T C 2: 131,164,135 (GRCm39) probably benign Het
Ror1 A G 4: 100,298,687 (GRCm39) S687G probably damaging Het
Rsph9 A G 17: 46,446,013 (GRCm39) S186P probably damaging Het
Sash1 C T 10: 8,605,155 (GRCm39) M1078I probably benign Het
Scd4 C A 19: 44,327,510 (GRCm39) D195E probably benign Het
Spopfm3 C T 3: 94,105,709 (GRCm39) T9I probably damaging Het
Syn3 A G 10: 85,904,940 (GRCm39) C348R probably damaging Het
Uspl1 T C 5: 149,151,827 (GRCm39) F1009S probably benign Het
Vmn1r2 T A 4: 3,172,149 (GRCm39) F23I probably benign Het
Vmn1r257 A G 7: 22,391,229 (GRCm39) S172P probably benign Het
Vmn2r-ps158 T A 7: 42,672,582 (GRCm39) N72K probably benign Het
Zfp747l1 A T 7: 126,984,135 (GRCm39) C322* probably null Het
Zfp839 C T 12: 110,835,226 (GRCm39) T827I probably benign Het
Other mutations in Ifit1bl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ifit1bl2 APN 19 34,597,319 (GRCm39) missense probably benign 0.22
IGL00706:Ifit1bl2 APN 19 34,596,282 (GRCm39) missense probably benign 0.09
IGL01322:Ifit1bl2 APN 19 34,596,404 (GRCm39) missense probably benign 0.10
IGL01362:Ifit1bl2 APN 19 34,596,884 (GRCm39) missense probably benign 0.04
IGL03061:Ifit1bl2 APN 19 34,597,124 (GRCm39) missense probably benign 0.41
R0039:Ifit1bl2 UTSW 19 34,596,846 (GRCm39) nonsense probably null
R1079:Ifit1bl2 UTSW 19 34,596,885 (GRCm39) missense probably benign 0.00
R1438:Ifit1bl2 UTSW 19 34,596,569 (GRCm39) missense possibly damaging 0.70
R2050:Ifit1bl2 UTSW 19 34,596,870 (GRCm39) missense possibly damaging 0.75
R2104:Ifit1bl2 UTSW 19 34,596,920 (GRCm39) missense probably benign 0.01
R2228:Ifit1bl2 UTSW 19 34,596,630 (GRCm39) missense possibly damaging 0.70
R2229:Ifit1bl2 UTSW 19 34,596,630 (GRCm39) missense possibly damaging 0.70
R4468:Ifit1bl2 UTSW 19 34,596,468 (GRCm39) nonsense probably null
R4517:Ifit1bl2 UTSW 19 34,607,164 (GRCm39) start gained probably benign
R5723:Ifit1bl2 UTSW 19 34,597,458 (GRCm39) missense probably benign 0.07
R5935:Ifit1bl2 UTSW 19 34,597,128 (GRCm39) missense probably benign 0.04
R6024:Ifit1bl2 UTSW 19 34,597,438 (GRCm39) missense probably benign 0.00
R6083:Ifit1bl2 UTSW 19 34,597,217 (GRCm39) missense possibly damaging 0.80
R6085:Ifit1bl2 UTSW 19 34,597,217 (GRCm39) missense possibly damaging 0.80
R6280:Ifit1bl2 UTSW 19 34,597,534 (GRCm39) missense possibly damaging 0.70
R6368:Ifit1bl2 UTSW 19 34,596,525 (GRCm39) missense probably benign 0.00
R6905:Ifit1bl2 UTSW 19 34,596,990 (GRCm39) missense possibly damaging 0.90
R7048:Ifit1bl2 UTSW 19 34,596,551 (GRCm39) missense probably benign 0.04
R7355:Ifit1bl2 UTSW 19 34,597,061 (GRCm39) missense probably damaging 1.00
R7447:Ifit1bl2 UTSW 19 34,596,974 (GRCm39) missense probably damaging 1.00
R9500:Ifit1bl2 UTSW 19 34,596,508 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AACTCAGGGTTCACTGCTCC -3'
(R):5'- TTAGAGCTGAAACCCACATATGACAG -3'

Sequencing Primer
(F):5'- TCAGGGCCTTCTCATAACATGACATG -3'
(R):5'- CCCACATATGACAGAGCATATATTG -3'
Posted On 2019-11-12