Incidental Mutation 'IGL03243:Gpn1'
ID414327
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 #IGL03243
Quality Score
Status
Chromosome5
Chromosomal Location31494741-31512904 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) G to A at 31510831 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065388] [ENSMUST00000076949] [ENSMUST00000076949] [ENSMUST00000200721] [ENSMUST00000201769]
Predicted Effect probably benign
Transcript: ENSMUST00000065388
SMART Domains Protein: ENSMUSP00000067337
Gene: ENSMUSG00000053134

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
low complexity region 378 393 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000076949
SMART Domains Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037

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 probably null
Transcript: ENSMUST00000076949
SMART Domains Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037

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 probably benign
Transcript: ENSMUST00000200721
SMART Domains Protein: ENSMUSP00000144294
Gene: ENSMUSG00000053134

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 46 68 N/A INTRINSIC
BTP 100 179 5.13e-25 SMART
low complexity region 329 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201769
SMART Domains Protein: ENSMUSP00000144065
Gene: ENSMUSG00000053134

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
low complexity region 378 393 N/A INTRINSIC
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,696 T586A probably benign Het
Agtr1b T C 3: 20,315,795 T216A probably benign Het
Ankdd1a T C 9: 65,501,470 R505G probably benign Het
Anxa3 A T 5: 96,828,692 probably benign Het
Atp6v1c2 C T 12: 17,289,121 V210I probably benign Het
BC034090 G A 1: 155,225,655 P288S possibly damaging Het
Catsper2 T C 2: 121,406,819 H200R probably benign Het
Cntnap5c G T 17: 58,102,176 A470S probably benign Het
Fcho2 G A 13: 98,777,384 probably benign Het
Frem1 A C 4: 83,013,969 L165R probably damaging Het
Gm5155 A T 7: 17,918,649 noncoding transcript Het
Gpr179 T C 11: 97,351,475 N181S probably benign Het
Heatr5b A T 17: 78,763,080 probably benign Het
Kat6a A G 8: 22,910,222 N333S possibly damaging Het
Lrp5 T C 19: 3,630,159 T442A probably benign Het
Myo15 G T 11: 60,496,518 L722F probably damaging Het
Nlrp9c T G 7: 26,365,032 D957A probably damaging Het
Nupl1 T A 14: 60,221,616 T521S probably benign Het
Olfr58 T G 9: 19,783,268 I45S probably damaging Het
Plek C A 11: 16,995,319 V4L possibly damaging Het
Sell T A 1: 164,065,342 H42Q possibly damaging Het
Slfn8 A T 11: 83,003,707 I702K probably damaging Het
Svep1 T C 4: 58,133,387 I573V probably benign Het
Tgm1 T A 14: 55,705,907 I526F probably damaging Het
Tmem30c A T 16: 57,276,150 S203T probably benign Het
Tox T C 4: 6,697,597 N402S possibly damaging Het
Trav7d-4 C A 14: 52,770,098 probably benign Het
Unc13d A T 11: 116,067,844 V784D probably benign Het
Vmn2r68 A G 7: 85,233,755 V263A possibly damaging Het
Zfp385c A T 11: 100,634,747 V56D probably damaging Het
Znrf2 A T 6: 54,884,769 I222L possibly damaging Het
Other mutations in Gpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Gpn1 APN 5 31498401 missense probably damaging 0.99
IGL01431:Gpn1 APN 5 31507538 missense probably benign 0.00
IGL01673:Gpn1 APN 5 31494835 missense probably damaging 1.00
IGL01921:Gpn1 APN 5 31499268 missense probably damaging 0.99
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 On2016-08-02