Incidental Mutation 'IGL01603:Gtf2ird2'
ID 92233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2ird2
Ensembl Gene ENSMUSG00000015942
Gene Name GTF2I repeat domain containing 2
Synonyms 1700012P16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL01603
Quality Score
Status
Chromosome 5
Chromosomal Location 134211629-134246988 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 134231129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000123941]
AlphaFold Q99NI3
Predicted Effect probably benign
Transcript: ENSMUST00000016086
SMART Domains Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942

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 noncoding transcript
Transcript: ENSMUST00000122780
Predicted Effect probably benign
Transcript: ENSMUST00000123941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201098
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,564,327 (GRCm39) D20V probably damaging Het
Akr1c12 A G 13: 4,322,926 (GRCm39) probably null Het
Baiap2l1 C T 5: 144,217,625 (GRCm39) probably benign Het
Baz2a T C 10: 127,947,037 (GRCm39) F184L probably damaging Het
Cadps T C 14: 12,454,154 (GRCm38) probably benign Het
Cbr4 A T 8: 61,956,245 (GRCm39) *237Y probably null Het
Cln3 T G 7: 126,174,526 (GRCm39) N275T probably benign Het
Csf1r A G 18: 61,262,373 (GRCm39) E823G probably damaging Het
Ctr9 C A 7: 110,648,538 (GRCm39) A726D probably damaging Het
Def6 C T 17: 28,438,714 (GRCm39) probably benign Het
Dock4 T A 12: 40,743,030 (GRCm39) I395N probably damaging Het
Eln T C 5: 134,747,894 (GRCm39) probably benign Het
Fasn A T 11: 120,706,891 (GRCm39) H920Q probably damaging Het
Glb1l3 A G 9: 26,770,832 (GRCm39) I78T probably damaging Het
Gm7275 A T 16: 47,893,942 (GRCm39) noncoding transcript Het
Grm5 A C 7: 87,252,386 (GRCm39) Y212S probably damaging Het
Gucy1b1 A G 3: 81,942,175 (GRCm39) V528A probably damaging Het
Hspg2 G A 4: 137,280,114 (GRCm39) A3168T probably damaging Het
Kcnj6 A G 16: 94,634,058 (GRCm39) S18P probably benign Het
Kcnq5 T A 1: 21,575,564 (GRCm39) K294I possibly damaging Het
Lama4 G A 10: 38,941,642 (GRCm39) G693E possibly damaging Het
Ldb1 A T 19: 46,024,014 (GRCm39) I124K probably damaging Het
Lrrfip1 C T 1: 91,043,635 (GRCm39) T680I probably benign Het
Lypd10 T A 7: 24,411,954 (GRCm39) W45R probably damaging Het
Map3k19 T A 1: 127,758,010 (GRCm39) D186V possibly damaging Het
Mrgprx2 T C 7: 48,132,374 (GRCm39) Y148C probably damaging Het
Muc4 G A 16: 32,569,473 (GRCm39) A178T probably benign Het
Mylip A C 13: 45,543,479 (GRCm39) E16A probably benign Het
Nek9 A G 12: 85,352,379 (GRCm39) F828S probably damaging Het
Obscn A G 11: 58,928,631 (GRCm39) F6012L probably damaging Het
Or14a257 A G 7: 86,138,139 (GRCm39) S207P possibly damaging Het
Or2o1 A C 11: 49,051,438 (GRCm39) D199A probably damaging Het
Or5p54 A G 7: 107,554,580 (GRCm39) Y244C possibly damaging Het
Pcid2 T A 8: 13,129,936 (GRCm39) K273N possibly damaging Het
Plekhm3 C T 1: 64,960,991 (GRCm39) D422N probably damaging Het
Prr12 T C 7: 44,692,909 (GRCm39) H1541R probably damaging Het
Psg26 A C 7: 18,209,028 (GRCm39) V460G probably damaging Het
Rbmxl1 G A 8: 79,232,459 (GRCm39) R295* probably null Het
Sbf1 A T 15: 89,187,481 (GRCm39) V690E probably damaging Het
Serpinb2 T A 1: 107,449,910 (GRCm39) S108T probably benign Het
Sin3b T C 8: 73,476,692 (GRCm39) Y709H probably damaging Het
Slc17a5 A G 9: 78,481,989 (GRCm39) W160R probably damaging Het
Spef2 T A 15: 9,704,466 (GRCm39) D449V probably damaging Het
Tas2r108 C A 6: 40,470,720 (GRCm39) N65K possibly damaging Het
Tex15 T A 8: 34,063,575 (GRCm39) F1002I possibly damaging Het
Trpm5 G A 7: 142,629,338 (GRCm39) S942L probably benign Het
Tspan5 T C 3: 138,596,517 (GRCm39) S52P probably damaging Het
Uqcrfs1 T C 13: 30,725,181 (GRCm39) T120A probably benign Het
Usp6nl T C 2: 6,428,246 (GRCm39) F193L probably damaging Het
Vmn2r26 T A 6: 124,030,833 (GRCm39) C523S probably damaging Het
Wfdc2 C T 2: 164,405,979 (GRCm39) P92S probably benign Het
Zbtb18 A T 1: 177,275,549 (GRCm39) H303L probably benign Het
Zfp174 A T 16: 3,672,153 (GRCm39) H234L probably benign Het
Zmynd12 T C 4: 119,299,117 (GRCm39) probably null 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
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
R4775:Gtf2ird2 UTSW 5 134,242,970 (GRCm39) missense probably benign 0.01
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
Posted On 2013-12-09