Incidental Mutation 'IGL01431:Gpn1'
ID84118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpn1
Ensembl Gene ENSMUSG00000064037
Gene NameGPN-loop GTPase 1
Synonyms2410004J02Rik, Xab1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL01431
Quality Score
Status
Chromosome5
Chromosomal Location31494741-31512904 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31507538 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 302 (V302A)
Ref Sequence ENSEMBL: ENSMUSP00000076217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076949]
Predicted Effect probably benign
Transcript: ENSMUST00000076949
AA Change: V302A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037
AA Change: V302A

DomainStartEndE-ValueType
AAA 18 182 9.44e-4 SMART
low complexity region 263 275 N/A INTRINSIC
low complexity region 330 344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202515
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,225,395 probably benign Het
Adamts7 A G 9: 90,207,785 I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 V90M possibly damaging Het
Atf6 T C 1: 170,853,002 probably benign Het
Cdh3 T C 8: 106,547,669 Y607H probably damaging Het
Cer1 T A 4: 82,882,831 E198D probably benign Het
Dscam A G 16: 96,652,078 probably null Het
Ecel1 C T 1: 87,151,504 R484H probably damaging Het
Entpd7 C A 19: 43,729,839 H575Q probably benign Het
F11r T C 1: 171,462,909 V279A probably damaging Het
Gm17093 T A 14: 44,521,665 probably benign Het
Got1 T A 19: 43,503,049 K321* probably null Het
Hivep1 G T 13: 42,158,017 K1244N probably damaging Het
Idh3b T C 2: 130,281,897 T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 probably benign Het
Mybl1 G T 1: 9,672,647 L579I probably damaging Het
Myh14 T A 7: 44,614,358 T1694S probably null Het
Mylk3 T C 8: 85,336,401 D537G probably damaging Het
Myo1d A C 11: 80,674,839 F387V probably damaging Het
Nek9 T C 12: 85,314,587 Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 probably benign Het
Retreg2 T A 1: 75,145,105 probably null Het
Ripply3 G A 16: 94,328,543 C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 probably benign Het
Rrm1 C A 7: 102,457,552 probably benign Het
Rsad2 T A 12: 26,448,667 R269S probably benign Het
Sbp A T 17: 23,945,348 probably benign Het
Schip1 A T 3: 68,617,777 Q162L probably damaging Het
Senp1 T C 15: 98,082,263 Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 R233K probably damaging Het
Smoc1 C A 12: 81,152,751 S220* probably null Het
Stab1 C A 14: 31,148,995 R1299I probably benign Het
Stk17b A G 1: 53,765,915 probably benign Het
Tmc7 T G 7: 118,552,762 D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 T1591K possibly damaging Het
Other mutations in Gpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Gpn1 APN 5 31498401 missense probably damaging 0.99
IGL01673:Gpn1 APN 5 31494835 missense probably damaging 1.00
IGL01921:Gpn1 APN 5 31499268 missense probably damaging 0.99
IGL03243:Gpn1 APN 5 31510831 critical splice acceptor site probably null
IGL03343:Gpn1 APN 5 31504965 missense probably damaging 1.00
PIT4480001:Gpn1 UTSW 5 31497341 missense probably damaging 1.00
PIT4585001:Gpn1 UTSW 5 31509403 nonsense probably null
R0001:Gpn1 UTSW 5 31495617 splice site probably benign
R1301:Gpn1 UTSW 5 31503429 missense probably damaging 1.00
R1583:Gpn1 UTSW 5 31497338 missense possibly damaging 0.46
R1622:Gpn1 UTSW 5 31503404 missense possibly damaging 0.85
R2860:Gpn1 UTSW 5 31497320 missense probably damaging 1.00
R2861:Gpn1 UTSW 5 31497320 missense probably damaging 1.00
R4603:Gpn1 UTSW 5 31497352 critical splice donor site probably null
R4627:Gpn1 UTSW 5 31498393 nonsense probably null
R5927:Gpn1 UTSW 5 31500891 missense probably damaging 1.00
R6613:Gpn1 UTSW 5 31497352 critical splice donor site probably null
R6830:Gpn1 UTSW 5 31507488 missense probably benign 0.00
R7214:Gpn1 UTSW 5 31503417 missense probably damaging 1.00
R7372:Gpn1 UTSW 5 31501121 missense probably damaging 0.99
X0062:Gpn1 UTSW 5 31495593 missense probably damaging 1.00
Posted On2013-11-11