Incidental Mutation 'R4708:Gtf2ird2'
ID 355404
Institutional Source Beutler Lab
Gene Symbol Gtf2ird2
Ensembl Gene ENSMUSG00000015942
Gene Name GTF2I repeat domain containing 2
Synonyms 1700012P16Rik
MMRRC Submission 042017-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4708 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 134211629-134246988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134245140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 466 (H466R)
Ref Sequence ENSEMBL: ENSMUSP00000016086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000016094] [ENSMUST00000111275] [ENSMUST00000123941] [ENSMUST00000144086] [ENSMUST00000152587] [ENSMUST00000146354]
AlphaFold Q99NI3
Predicted Effect probably damaging
Transcript: ENSMUST00000016086
AA Change: H466R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: H466R

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: ENSMUST00000016094
SMART Domains Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950

DomainStartEndE-ValueType
PX 4 121 2.14e-25 SMART
SH3 159 214 2.17e-17 SMART
SH3 229 284 1.02e-13 SMART
Pfam:p47_phox_C 332 403 1.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111275
SMART Domains Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950

DomainStartEndE-ValueType
PX 4 121 2.14e-25 SMART
SH3 159 214 2.17e-17 SMART
SH3 229 284 1.02e-13 SMART
Pfam:p47_phox_C 332 390 5.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128842
Predicted Effect probably benign
Transcript: ENSMUST00000135588
Predicted Effect probably benign
Transcript: ENSMUST00000144086
SMART Domains Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950

DomainStartEndE-ValueType
PX 4 121 2.14e-25 SMART
SH3 159 214 2.17e-17 SMART
SH3 229 284 1.02e-13 SMART
low complexity region 336 344 N/A INTRINSIC
low complexity region 349 367 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000152587
Predicted Effect probably benign
Transcript: ENSMUST00000146354
SMART Domains Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950

DomainStartEndE-ValueType
PX 4 121 2.14e-25 SMART
SH3 159 214 2.17e-17 SMART
SH3 229 284 1.02e-13 SMART
Pfam:p47_phox_C 332 390 5.8e-26 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,261,309 (GRCm39) G2D probably damaging Het
4930505A04Rik T C 11: 30,404,717 (GRCm39) Y62C probably damaging Het
Aadacl4 A C 4: 144,349,899 (GRCm39) K385N probably benign Het
Abcb4 A T 5: 8,965,125 (GRCm39) T332S possibly damaging Het
Aco2 G A 15: 81,794,117 (GRCm39) probably null Het
Aplf G T 6: 87,640,739 (GRCm39) S69Y probably damaging Het
Arhgap27 A G 11: 103,224,388 (GRCm39) probably benign Het
B4galnt1 T A 10: 127,005,684 (GRCm39) Y262N probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc62 T G 5: 124,068,925 (GRCm39) probably null Het
Cd109 T A 9: 78,579,871 (GRCm39) I649K probably benign Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cep290 A G 10: 100,359,126 (GRCm39) K952R probably benign Het
Ces2a A G 8: 105,463,938 (GRCm39) H190R probably benign Het
Clec14a A G 12: 58,314,489 (GRCm39) S378P probably benign Het
Col27a1 A G 4: 63,202,150 (GRCm39) Q947R probably benign Het
Dennd3 A G 15: 73,395,344 (GRCm39) T146A probably damaging Het
Dpy19l4 T A 4: 11,277,970 (GRCm39) M486L probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eif4enif1 T G 11: 3,170,323 (GRCm39) H125Q probably damaging Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Fubp3 C T 2: 31,498,122 (GRCm39) T92I probably benign Het
Gm19426 T C 2: 84,573,803 (GRCm39) probably null Het
Hdac5 T C 11: 102,093,019 (GRCm39) S573G probably damaging Het
Iars2 A T 1: 185,021,554 (GRCm39) M916K probably benign Het
Insr A T 8: 3,261,346 (GRCm39) probably benign Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ivl T A 3: 92,479,057 (GRCm39) K336I probably damaging Het
Kcng2 A G 18: 80,366,067 (GRCm39) I95T probably damaging Het
Lap3 A G 5: 45,668,480 (GRCm39) R431G probably damaging Het
Lrrc66 T C 5: 73,787,005 (GRCm39) H115R probably benign Het
Morc3 T C 16: 93,670,126 (GRCm39) V767A probably benign Het
Mttp A G 3: 137,839,859 (GRCm39) probably benign Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nat9 G A 11: 115,074,269 (GRCm39) T133M probably damaging Het
Nectin4 T C 1: 171,212,714 (GRCm39) I349T probably benign Het
Nlrp4a A G 7: 26,163,533 (GRCm39) E900G probably benign Het
Nlrp9c A T 7: 26,084,265 (GRCm39) M438K probably benign Het
Or2y14 T A 11: 49,405,216 (GRCm39) Y250* probably null Het
Or52p2 A T 7: 102,237,043 (GRCm39) D302E probably benign Het
Or5b21 A T 19: 12,839,261 (GRCm39) I41F probably benign Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pde6c G A 19: 38,169,341 (GRCm39) E804K possibly damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Ptprs A G 17: 56,735,067 (GRCm39) W216R probably damaging Het
Rhof T A 5: 123,258,454 (GRCm39) T126S probably benign Het
Riox2 A G 16: 59,296,045 (GRCm39) I49V probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rusf1 A G 7: 127,873,852 (GRCm39) V345A probably benign Het
Shld2 A G 14: 33,989,790 (GRCm39) V372A probably benign Het
Spata31e2 A T 1: 26,723,521 (GRCm39) V553D possibly damaging Het
Tmc6 A T 11: 117,659,774 (GRCm39) C750S probably benign Het
Tmem231 C A 8: 112,660,418 (GRCm39) probably benign Het
Tmem94 T A 11: 115,677,121 (GRCm39) I131N possibly damaging Het
Tmx3 T C 18: 90,539,163 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,123 (GRCm39) T245I possibly damaging Het
Ttbk2 C A 2: 120,570,342 (GRCm39) R1201S probably damaging Het
Vmn2r102 A T 17: 19,914,576 (GRCm39) M714L probably benign Het
Vmn2r109 A G 17: 20,761,605 (GRCm39) L584S probably damaging Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Vnn1 T A 10: 23,773,250 (GRCm39) D92E probably benign Het
Zan T C 5: 137,444,974 (GRCm39) I1762V unknown Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfhx4 A G 3: 5,310,563 (GRCm39) probably null Het
Zfp560 T C 9: 20,263,214 (GRCm39) E54G possibly damaging Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zmynd11 A C 13: 9,745,789 (GRCm39) V188G probably damaging 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
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'- TTAGGGAGTTGCCAAGTCACC -3'
(R):5'- AGGAGCGGATTTTCTGTCTTAAC -3'

Sequencing Primer
(F):5'- CCATTCCATGTCTCTATAAAGTGGGG -3'
(R):5'- AACTTCTCCCATAAGCTCCCGG -3'
Posted On 2015-10-21