Incidental Mutation 'IGL01319:Gtpbp4'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtpbp4
Ensembl Gene ENSMUSG00000021149
Gene NameGTP binding protein 4
SynonymsNog1, 2610028C09Rik, Crfg
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.969) question?
Stock #IGL01319
Quality Score
Chromosomal Location8966331-8996083 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8985260 bp
Amino Acid Change Asparagine to Lysine at position 354 (N354K)
Ref Sequence ENSEMBL: ENSMUSP00000152412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021574] [ENSMUST00000222098]
Predicted Effect probably benign
Transcript: ENSMUST00000021574
SMART Domains Protein: ENSMUSP00000021574
Gene: ENSMUSG00000021149

Pfam:FeoB_N 169 335 4.7e-13 PFAM
Pfam:MMR_HSR1 170 290 1.7e-18 PFAM
Pfam:NOG1 235 292 1.3e-29 PFAM
Pfam:NOGCT 395 446 1.4e-24 PFAM
low complexity region 448 459 N/A INTRINSIC
low complexity region 467 479 N/A INTRINSIC
low complexity region 489 503 N/A INTRINSIC
low complexity region 544 558 N/A INTRINSIC
low complexity region 560 575 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221534
Predicted Effect probably benign
Transcript: ENSMUST00000222098
AA Change: N354K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
Emid1 C T 11: 5,143,859 C96Y probably damaging Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Fbxw14 T C 9: 109,278,791 K172E probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Ppp2r2c T A 5: 36,947,121 S282T possibly damaging Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rnf20 T G 4: 49,649,326 D443E probably damaging Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tbxas1 A G 6: 39,017,973 I178V probably benign Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Triml1 A G 8: 43,141,397 probably benign Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K possibly damaging Het
Other mutations in Gtpbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Gtpbp4 APN 13 8977272 missense probably benign
IGL02108:Gtpbp4 APN 13 8985213 missense probably benign 0.20
IGL02116:Gtpbp4 APN 13 8992736 missense probably damaging 1.00
IGL02406:Gtpbp4 APN 13 8991750 missense possibly damaging 0.81
Atretic UTSW 13 8990737 nonsense probably null
enervated UTSW 13 8989105 missense possibly damaging 0.93
PIT4576001:Gtpbp4 UTSW 13 8991727 missense probably damaging 0.99
R0183:Gtpbp4 UTSW 13 8974961 missense probably benign 0.05
R0571:Gtpbp4 UTSW 13 8990686 splice site probably benign
R1420:Gtpbp4 UTSW 13 8973262 missense probably benign 0.00
R1641:Gtpbp4 UTSW 13 8973249 missense probably benign 0.22
R1840:Gtpbp4 UTSW 13 8979464 missense probably benign 0.00
R1967:Gtpbp4 UTSW 13 8977304 missense probably benign 0.01
R2883:Gtpbp4 UTSW 13 8990723 missense possibly damaging 0.86
R3862:Gtpbp4 UTSW 13 8990798 missense probably damaging 0.99
R4524:Gtpbp4 UTSW 13 8974294 missense probably benign 0.02
R4963:Gtpbp4 UTSW 13 8985217 missense probably damaging 1.00
R5009:Gtpbp4 UTSW 13 8989066 missense probably benign 0.05
R5555:Gtpbp4 UTSW 13 8979427 critical splice donor site probably null
R5749:Gtpbp4 UTSW 13 8995947 critical splice donor site probably null
R5860:Gtpbp4 UTSW 13 8973160 missense probably benign 0.00
R6449:Gtpbp4 UTSW 13 8990737 nonsense probably null
R6616:Gtpbp4 UTSW 13 8989105 missense possibly damaging 0.93
R7261:Gtpbp4 UTSW 13 8987918 missense probably benign 0.12
R7829:Gtpbp4 UTSW 13 8985330 splice site probably null
R7999:Gtpbp4 UTSW 13 8987286 missense probably damaging 1.00
Posted On2013-10-07