Incidental Mutation 'R4775:Gtf2ird2'
ID 367835
Institutional Source Beutler Lab
Gene Symbol Gtf2ird2
Ensembl Gene ENSMUSG00000015942
Gene Name GTF2I repeat domain containing 2
Synonyms 1700012P16Rik
MMRRC Submission 041991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4775 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 134211629-134246988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134242970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 395 (F395L)
Ref Sequence ENSEMBL: ENSMUSP00000016086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000123941] [ENSMUST00000152587]
AlphaFold Q99NI3
Predicted Effect probably benign
Transcript: ENSMUST00000016086
AA Change: F395L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: F395L

DomainStartEndE-ValueType
Pfam:GTF2I 104 178 6.1e-31 PFAM
Pfam:GTF2I 328 402 1.6e-25 PFAM
Blast:Tryp_SPc 436 491 4e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000123941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128842
Predicted Effect unknown
Transcript: ENSMUST00000135588
AA Change: F7L
Predicted Effect unknown
Transcript: ENSMUST00000152587
AA Change: F7L
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,134,165 (GRCm39) Y426C probably damaging Het
Adam7 A G 14: 68,745,361 (GRCm39) I621T probably benign Het
Adamts1 A T 16: 85,597,278 (GRCm39) Y260* probably null Het
Adgrf1 C T 17: 43,622,054 (GRCm39) L764F probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Atp9b A G 18: 80,808,984 (GRCm39) probably null Het
C5ar2 A C 7: 15,971,540 (GRCm39) L129R probably damaging Het
Ccdc174 G A 6: 91,867,875 (GRCm39) probably null Het
Cidec T C 6: 113,411,695 (GRCm39) M1V probably null Het
Clec16a G T 16: 10,456,778 (GRCm39) R663L probably damaging Het
Col25a1 T C 3: 129,976,468 (GRCm39) C118R possibly damaging Het
Cox6b2 A G 7: 4,755,074 (GRCm39) C67R probably damaging Het
Cspg4b A T 13: 113,454,229 (GRCm39) I92F possibly damaging Het
Cwf19l2 A G 9: 3,430,973 (GRCm39) Y435C probably benign Het
Dapk1 T A 13: 60,897,156 (GRCm39) S792T probably benign Het
Dis3l T A 9: 64,238,190 (GRCm39) N101Y probably benign Het
Dsg4 A G 18: 20,604,184 (GRCm39) T884A possibly damaging Het
Dvl1 T C 4: 155,942,584 (GRCm39) W617R probably benign Het
Eml5 A G 12: 98,768,566 (GRCm39) V1503A probably benign Het
Engase A T 11: 118,373,497 (GRCm39) D280V probably benign Het
F11r T C 1: 171,289,209 (GRCm39) S224P probably damaging Het
Fanca A G 8: 124,023,045 (GRCm39) V564A probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gle1 T C 2: 29,826,073 (GRCm39) W51R possibly damaging Het
Gm94 A G 18: 43,925,836 (GRCm39) probably null Het
Gm9830 A T 9: 44,375,721 (GRCm39) noncoding transcript Het
Gpaa1 T A 15: 76,218,891 (GRCm39) probably null Het
Grin1 C T 2: 25,182,475 (GRCm39) A929T possibly damaging Het
Grm7 T A 6: 110,891,332 (GRCm39) D188E probably damaging Het
Lipo3 C A 19: 33,757,795 (GRCm39) G225C probably damaging Het
Lonrf2 T A 1: 38,857,140 (GRCm39) probably null Het
Marveld2 A G 13: 100,753,303 (GRCm39) probably benign Het
Mpl A G 4: 118,305,777 (GRCm39) L416P probably damaging Het
Mppe1 A G 18: 67,359,930 (GRCm39) L312P possibly damaging Het
Mpzl3 T A 9: 44,977,730 (GRCm39) S113T probably damaging Het
Mylk3 G A 8: 86,085,689 (GRCm39) Q149* probably null Het
Myt1 T A 2: 181,464,470 (GRCm39) I968N probably damaging Het
Ndc80 A G 17: 71,821,265 (GRCm39) Y228H probably damaging Het
Nelfcd T G 2: 174,268,369 (GRCm39) C520G probably damaging Het
Nfrkb C A 9: 31,330,345 (GRCm39) T1199K possibly damaging Het
Nipa2 A G 7: 55,585,611 (GRCm39) I109T probably benign Het
Nlrp4e A G 7: 23,042,525 (GRCm39) T804A probably benign Het
Nsf A T 11: 103,763,419 (GRCm39) I395K possibly damaging Het
Nt5c1b G A 12: 10,425,449 (GRCm39) V331I probably damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or1e29 A G 11: 73,667,377 (GRCm39) Y259H probably damaging Het
Pask T C 1: 93,265,246 (GRCm39) D3G probably damaging Het
Pglyrp3 T C 3: 91,933,037 (GRCm39) V110A possibly damaging Het
Ppp4r3a C T 12: 101,019,825 (GRCm39) V377M probably damaging Het
Prr12 A G 7: 44,700,749 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,135,922 (GRCm39) probably null Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rph3a T A 5: 121,092,551 (GRCm39) Y350F probably benign Het
Skint4 A T 4: 111,993,261 (GRCm39) H328L probably damaging Het
Smyd4 G A 11: 75,282,018 (GRCm39) C497Y probably damaging Het
Stk11ip T C 1: 75,510,497 (GRCm39) W864R possibly damaging Het
Stkld1 T A 2: 26,841,757 (GRCm39) V543E probably damaging Het
Taok2 A G 7: 126,469,940 (GRCm39) S963P probably damaging Het
Tars2 A G 3: 95,653,959 (GRCm39) L354P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpcn2 A G 7: 144,821,079 (GRCm39) L325P probably damaging Het
Trappc3l C G 10: 33,974,807 (GRCm39) H96Q probably benign Het
Trim66 A T 7: 109,056,796 (GRCm39) Y1120* probably null Het
Trio G A 15: 27,881,428 (GRCm39) Q548* probably null Het
Wipf2 T A 11: 98,781,558 (GRCm39) D32E probably benign Het
Other mutations in Gtf2ird2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Gtf2ird2 APN 5 134,225,394 (GRCm39) missense possibly damaging 0.93
IGL01295:Gtf2ird2 APN 5 134,221,603 (GRCm39) missense probably damaging 1.00
IGL01603:Gtf2ird2 APN 5 134,231,129 (GRCm39) splice site probably benign
IGL01824:Gtf2ird2 APN 5 134,226,123 (GRCm39) splice site probably benign
IGL02469:Gtf2ird2 APN 5 134,220,088 (GRCm39) missense probably damaging 1.00
IGL02525:Gtf2ird2 APN 5 134,245,319 (GRCm39) missense probably benign 0.03
IGL02567:Gtf2ird2 APN 5 134,241,890 (GRCm39) unclassified probably benign
IGL02750:Gtf2ird2 APN 5 134,245,731 (GRCm39) missense probably damaging 0.99
IGL02992:Gtf2ird2 APN 5 134,246,456 (GRCm39) missense possibly damaging 0.79
IGL03000:Gtf2ird2 APN 5 134,223,745 (GRCm39) missense probably benign 0.45
IGL03114:Gtf2ird2 APN 5 134,245,752 (GRCm39) splice site probably null
IGL03180:Gtf2ird2 APN 5 134,220,087 (GRCm39) missense probably damaging 1.00
R0077:Gtf2ird2 UTSW 5 134,242,925 (GRCm39) missense probably damaging 1.00
R0100:Gtf2ird2 UTSW 5 134,245,857 (GRCm39) missense probably damaging 0.97
R0100:Gtf2ird2 UTSW 5 134,245,857 (GRCm39) missense probably damaging 0.97
R0344:Gtf2ird2 UTSW 5 134,220,088 (GRCm39) missense probably damaging 1.00
R0568:Gtf2ird2 UTSW 5 134,240,083 (GRCm39) nonsense probably null
R0570:Gtf2ird2 UTSW 5 134,237,785 (GRCm39) critical splice donor site probably null
R0730:Gtf2ird2 UTSW 5 134,221,597 (GRCm39) nonsense probably null
R0826:Gtf2ird2 UTSW 5 134,245,797 (GRCm39) missense probably damaging 1.00
R1707:Gtf2ird2 UTSW 5 134,245,829 (GRCm39) missense probably damaging 1.00
R1710:Gtf2ird2 UTSW 5 134,240,081 (GRCm39) missense probably benign 0.26
R2064:Gtf2ird2 UTSW 5 134,245,340 (GRCm39) nonsense probably null
R2284:Gtf2ird2 UTSW 5 134,246,025 (GRCm39) missense probably benign 0.05
R2375:Gtf2ird2 UTSW 5 134,245,977 (GRCm39) missense probably benign 0.20
R3104:Gtf2ird2 UTSW 5 134,237,756 (GRCm39) missense probably benign 0.42
R4436:Gtf2ird2 UTSW 5 134,223,808 (GRCm39) missense possibly damaging 0.95
R4647:Gtf2ird2 UTSW 5 134,245,034 (GRCm39) missense probably damaging 1.00
R4708:Gtf2ird2 UTSW 5 134,245,140 (GRCm39) missense probably damaging 0.99
R4999:Gtf2ird2 UTSW 5 134,246,306 (GRCm39) missense probably damaging 0.97
R5011:Gtf2ird2 UTSW 5 134,245,824 (GRCm39) missense possibly damaging 0.90
R5036:Gtf2ird2 UTSW 5 134,246,349 (GRCm39) missense probably damaging 1.00
R5261:Gtf2ird2 UTSW 5 134,245,061 (GRCm39) missense probably benign 0.00
R5379:Gtf2ird2 UTSW 5 134,246,310 (GRCm39) missense probably benign
R5921:Gtf2ird2 UTSW 5 134,246,426 (GRCm39) missense probably damaging 1.00
R6180:Gtf2ird2 UTSW 5 134,245,389 (GRCm39) missense probably damaging 1.00
R6483:Gtf2ird2 UTSW 5 134,240,066 (GRCm39) missense probably benign 0.00
R7355:Gtf2ird2 UTSW 5 134,245,491 (GRCm39) missense probably benign 0.24
R7475:Gtf2ird2 UTSW 5 134,230,267 (GRCm39) missense possibly damaging 0.47
R7566:Gtf2ird2 UTSW 5 134,242,848 (GRCm39) missense probably damaging 1.00
R8021:Gtf2ird2 UTSW 5 134,232,175 (GRCm39) missense probably benign
R8701:Gtf2ird2 UTSW 5 134,245,077 (GRCm39) missense probably damaging 1.00
R8756:Gtf2ird2 UTSW 5 134,226,090 (GRCm39) missense possibly damaging 0.80
R8898:Gtf2ird2 UTSW 5 134,226,106 (GRCm39) missense probably benign
R8932:Gtf2ird2 UTSW 5 134,237,739 (GRCm39) missense probably benign 0.00
R8946:Gtf2ird2 UTSW 5 134,245,161 (GRCm39) missense probably damaging 1.00
R8955:Gtf2ird2 UTSW 5 134,245,596 (GRCm39) missense probably damaging 0.98
R9065:Gtf2ird2 UTSW 5 134,225,407 (GRCm39) missense probably damaging 0.99
R9288:Gtf2ird2 UTSW 5 134,221,571 (GRCm39) missense possibly damaging 0.82
R9566:Gtf2ird2 UTSW 5 134,246,256 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAAGCATTTAAGAATTCAAGTCC -3'
(R):5'- AGAGTGGAATGCCTTGGAGC -3'

Sequencing Primer
(F):5'- GGCACAGAGGCATCCAGTTTAC -3'
(R):5'- TGGAGCATCCTGACTCCAAGATG -3'
Posted On 2015-12-29