Incidental Mutation 'R0570:Gtf2ird2'
ID 46369
Institutional Source Beutler Lab
Gene Symbol Gtf2ird2
Ensembl Gene ENSMUSG00000015942
Gene Name GTF2I repeat domain containing 2
Synonyms 1700012P16Rik
MMRRC Submission 038761-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R0570 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 134211629-134246988 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 134237785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000016086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000123941]
AlphaFold Q99NI3
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (85/85)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik C A 8: 84,729,733 (GRCm39) probably benign Het
Aadacl3 C T 4: 144,190,130 (GRCm39) W57* probably null Het
Abca2 G T 2: 25,337,417 (GRCm39) probably null Het
Abca3 A G 17: 24,593,373 (GRCm39) I257V probably benign Het
Adamts2 A G 11: 50,666,963 (GRCm39) D420G probably damaging Het
Adamts5 A G 16: 85,696,135 (GRCm39) F341L probably damaging Het
Ahnak T A 19: 8,991,062 (GRCm39) D4115E probably damaging Het
Arhgap20 T C 9: 51,751,751 (GRCm39) S365P possibly damaging Het
Atrn G A 2: 130,822,054 (GRCm39) V916I probably benign Het
Blmh T C 11: 76,856,651 (GRCm39) V82A probably damaging Het
C1ra A T 6: 124,490,664 (GRCm39) Y19F probably benign Het
Cactin A G 10: 81,159,067 (GRCm39) E306G probably damaging Het
Celsr1 C T 15: 85,787,566 (GRCm39) R2724Q probably benign Het
Clca4b T C 3: 144,631,110 (GRCm39) E250G probably benign Het
Col17a1 A T 19: 47,654,317 (GRCm39) S647T possibly damaging Het
Cope T A 8: 70,759,181 (GRCm39) D74E probably damaging Het
Dsg1c T C 18: 20,403,435 (GRCm39) I198T probably damaging Het
Elfn2 T C 15: 78,557,434 (GRCm39) N371S probably damaging Het
Elmo2 G T 2: 165,146,839 (GRCm39) A246D probably benign Het
Ewsr1 A T 11: 5,035,935 (GRCm39) M187K possibly damaging Het
Faap100 A T 11: 120,265,114 (GRCm39) S587R possibly damaging Het
Fam234b C T 6: 135,186,247 (GRCm39) S85L probably benign Het
Fanca A T 8: 124,033,169 (GRCm39) S292R probably benign Het
Fanci G A 7: 79,093,711 (GRCm39) C1021Y probably damaging Het
Fhod3 T C 18: 25,245,640 (GRCm39) I1230T probably benign Het
Fmo5 T C 3: 97,536,456 (GRCm39) L27S probably damaging Het
Fmo9 A G 1: 166,502,031 (GRCm39) V147A probably null Het
Fnbp4 A G 2: 90,583,301 (GRCm39) Y309C probably damaging Het
Foxb1 T C 9: 69,666,844 (GRCm39) T229A probably benign Het
Gapvd1 A G 2: 34,618,552 (GRCm39) Y274H probably damaging Het
Gbp8 T C 5: 105,165,541 (GRCm39) probably null Het
Gcn1 T A 5: 115,730,480 (GRCm39) L888Q probably damaging Het
Gm17490 T C 2: 11,630,460 (GRCm39) probably benign Het
H2-Q1 A G 17: 35,540,373 (GRCm39) T153A possibly damaging Het
Ina A C 19: 47,011,938 (GRCm39) E452A probably benign Het
Kars1 A G 8: 112,721,494 (GRCm39) probably null Het
Kif1c A G 11: 70,595,291 (GRCm39) E124G probably damaging Het
Lpin3 T C 2: 160,745,944 (GRCm39) probably benign Het
Lrp1 A T 10: 127,390,878 (GRCm39) C3006* probably null Het
Lyst T C 13: 13,883,971 (GRCm39) L2953P probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Melk T C 4: 44,308,906 (GRCm39) Y88H probably damaging Het
Myrf A G 19: 10,189,161 (GRCm39) S857P probably damaging Het
Nos2 A G 11: 78,826,187 (GRCm39) I153M possibly damaging Het
Or4n4 T G 14: 50,519,370 (GRCm39) L113F probably benign Het
Otof A G 5: 30,529,225 (GRCm39) probably benign Het
Patl2 A G 2: 121,955,789 (GRCm39) V249A probably damaging Het
Pcgf5 A G 19: 36,389,580 (GRCm39) Y19C probably benign Het
Pcnt A T 10: 76,247,941 (GRCm39) V951E probably damaging Het
Pcolce2 T C 9: 95,520,710 (GRCm39) V29A probably benign Het
Pdgfrb A T 18: 61,210,775 (GRCm39) M761L probably benign Het
Pi16 A T 17: 29,538,189 (GRCm39) M1L possibly damaging Het
Pkd2 T A 5: 104,603,471 (GRCm39) probably benign Het
Plcb2 A G 2: 118,547,806 (GRCm39) W474R probably benign Het
Psapl1 A G 5: 36,361,624 (GRCm39) D72G possibly damaging Het
Ptpn5 T A 7: 46,728,681 (GRCm39) probably benign Het
Ptprg A G 14: 12,215,896 (GRCm38) E1115G probably damaging Het
Rassf1 C T 9: 107,435,165 (GRCm39) T224I probably damaging Het
Rbpms2 T A 9: 65,566,476 (GRCm39) C168* probably null Het
Rhag A G 17: 41,139,804 (GRCm39) probably benign Het
Rhebl1 C T 15: 98,779,034 (GRCm39) V17I probably benign Het
Rnf130 A T 11: 49,986,703 (GRCm39) D349V possibly damaging Het
Rprd1a A G 18: 24,642,952 (GRCm39) L60P probably damaging Het
Rspry1 T C 8: 95,356,420 (GRCm39) I25T probably damaging Het
Ruvbl2 C T 7: 45,071,621 (GRCm39) V421M probably damaging Het
Sap30 T C 8: 57,936,000 (GRCm39) N209D possibly damaging Het
Sfswap T C 5: 129,581,042 (GRCm39) probably benign Het
Slc1a2 G A 2: 102,586,352 (GRCm39) V319M probably damaging Het
Smad2 T C 18: 76,422,250 (GRCm39) probably benign Het
Spdya T C 17: 71,869,585 (GRCm39) probably null Het
Stk39 G A 2: 68,240,392 (GRCm39) T113M probably damaging Het
Tanc1 A G 2: 59,626,382 (GRCm39) probably benign Het
Tas2r122 T C 6: 132,688,774 (GRCm39) K40E probably damaging Het
Tph2 G T 10: 115,010,039 (GRCm39) probably benign Het
Trip12 G A 1: 84,729,269 (GRCm39) S1083F probably damaging Het
Tsc2 A T 17: 24,845,701 (GRCm39) C206S probably damaging Het
Tsc22d4 A G 5: 137,760,681 (GRCm39) Q34R possibly damaging Het
Uroc1 G T 6: 90,315,546 (GRCm39) M142I possibly damaging Het
Uso1 T C 5: 92,347,682 (GRCm39) S766P probably benign Het
Usp21 G A 1: 171,111,319 (GRCm39) probably benign Het
Usp48 T A 4: 137,360,437 (GRCm39) I658K possibly damaging Het
Vmn1r206 T C 13: 22,804,583 (GRCm39) H208R probably damaging Het
Vmn2r109 C T 17: 20,760,937 (GRCm39) A807T probably damaging Het
Zfp329 A T 7: 12,544,379 (GRCm39) C382S probably damaging Het
Zfp341 A G 2: 154,487,988 (GRCm39) E817G 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
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
Predicted Primers PCR Primer
(F):5'- CTCCAGCATGAGGATAAATGTGGGTAG -3'
(R):5'- TTCTAACTGTGGCTAAAGAGAGGGCTAA -3'

Sequencing Primer
(F):5'- GATAAATGTGGGTAGGGGTGG -3'
(R):5'- ccacacctcctaatccttcc -3'
Posted On 2013-06-11