Incidental Mutation 'R4603:Gpn1'
ID 345774
Institutional Source Beutler Lab
Gene Symbol Gpn1
Ensembl Gene ENSMUSG00000064037
Gene Name GPN-loop GTPase 1
Synonyms Xab1, 2410004J02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R4603 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31652085-31670248 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 31654696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076949] [ENSMUST00000201053] [ENSMUST00000202394]
AlphaFold Q8VCE2
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 damaging
Transcript: ENSMUST00000117700
AA Change: Y83H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113826
Gene: ENSMUSG00000064037
AA Change: Y83H

DomainStartEndE-ValueType
Pfam:ATP_bind_1 24 87 1.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200870
Predicted Effect probably benign
Transcript: ENSMUST00000201053
SMART Domains Protein: ENSMUSP00000144015
Gene: ENSMUSG00000064037

DomainStartEndE-ValueType
Pfam:ATP_bind_1 24 73 1.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201881
Predicted Effect probably damaging
Transcript: ENSMUST00000202394
AA Change: Y83H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144105
Gene: ENSMUSG00000064037
AA Change: Y83H

DomainStartEndE-ValueType
Pfam:ATP_bind_1 24 87 1.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201942
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik A G 2: 127,029,019 (GRCm39) V60A probably damaging Het
AAdacl4fm3 A G 4: 144,429,798 (GRCm39) V397A probably benign Het
Afg3l1 A G 8: 124,228,674 (GRCm39) T747A probably benign Het
Aldh4a1 T C 4: 139,370,740 (GRCm39) S408P probably damaging Het
Ank2 T C 3: 126,825,665 (GRCm39) T445A probably benign Het
Antxrl A G 14: 33,797,792 (GRCm39) E589G possibly damaging Het
Arhgef12 C T 9: 42,921,489 (GRCm39) G329R probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Bpnt2 T C 4: 4,767,878 (GRCm39) I299M probably damaging Het
Brca2 T A 5: 150,459,630 (GRCm39) C302S possibly damaging Het
Ccdc169 T A 3: 55,058,226 (GRCm39) M4K probably benign Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Cdc73 T C 1: 143,553,595 (GRCm39) probably null Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Cse1l T C 2: 166,786,452 (GRCm39) V604A probably benign Het
Cxcr1 G C 1: 74,231,896 (GRCm39) T42S probably benign Het
Dhx9 TCC TC 1: 153,342,797 (GRCm39) probably null Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Erp27 A G 6: 136,896,947 (GRCm39) V85A probably damaging Het
Fam3d T A 14: 8,358,429 (GRCm38) S57C probably damaging Het
Fgf8 T G 19: 45,726,592 (GRCm39) I137L probably benign Het
Fgfrl1 T A 5: 108,851,401 (GRCm39) V106D probably damaging Het
Gaa T C 11: 119,169,784 (GRCm39) W613R probably damaging Het
Gabarap A G 11: 69,885,287 (GRCm39) N66S probably benign Het
Gp1bb A T 16: 18,439,893 (GRCm39) L67Q probably damaging Het
Gstt1 T C 10: 75,629,969 (GRCm39) Y48C probably damaging Het
Iqcg C T 16: 32,861,134 (GRCm39) R194K probably null Het
Iqcg C G 16: 32,861,133 (GRCm39) probably null Het
Kcnj3 C T 2: 55,336,991 (GRCm39) R286* probably null Het
Klhl38 T A 15: 58,186,616 (GRCm39) I38F possibly damaging Het
Kmo C A 1: 175,479,208 (GRCm39) P248Q probably benign Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mprip T C 11: 59,622,399 (GRCm39) V162A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myocd T C 11: 65,078,571 (GRCm39) D408G possibly damaging Het
Myt1l A G 12: 29,892,539 (GRCm39) T59A probably benign Het
Ndufb7 A G 8: 84,293,494 (GRCm39) E16G probably damaging Het
Ndufs7 T A 10: 80,092,501 (GRCm39) Y203* probably null Het
Nploc4 C T 11: 120,276,613 (GRCm39) V478I probably benign Het
Nrap A G 19: 56,323,456 (GRCm39) probably null Het
Or5e1 A T 7: 108,354,834 (GRCm39) Y257F probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Pald1 T C 10: 61,184,395 (GRCm39) T241A probably benign Het
Pdss2 T C 10: 43,248,197 (GRCm39) S234P probably damaging Het
Pias2 T A 18: 77,217,803 (GRCm39) V335E probably damaging Het
Ppip5k2 C A 1: 97,682,861 (GRCm39) K187N probably damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Ppp4r1 T G 17: 66,120,459 (GRCm39) C181G probably damaging Het
Pramel27 T A 4: 143,579,451 (GRCm39) H345Q probably benign Het
Prkdc G A 16: 15,628,688 (GRCm39) E3478K probably damaging Het
Prpf4b T C 13: 35,072,147 (GRCm39) probably benign Het
Psme3 T A 11: 101,208,435 (GRCm39) probably null Het
Ptpre C A 7: 135,269,372 (GRCm39) Y284* probably null Het
Scnn1a A G 6: 125,299,123 (GRCm39) I94V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Shc2 T C 10: 79,459,690 (GRCm39) D418G probably benign Het
Sidt1 A T 16: 44,075,389 (GRCm39) D661E probably damaging Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Sorcs1 A G 19: 50,301,402 (GRCm39) probably null Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Tmem270 C A 5: 134,930,482 (GRCm39) E260* probably null Het
Tmtc2 T C 10: 105,249,391 (GRCm39) Y114C probably benign Het
Trim46 A G 3: 89,150,958 (GRCm39) F188S probably benign Het
Trim7 T A 11: 48,728,355 (GRCm39) M1K probably null Het
Txnip A G 3: 96,465,604 (GRCm39) E18G probably benign Het
Usp34 A G 11: 23,414,633 (GRCm39) N2859D probably damaging Het
Vmn2r94 T A 17: 18,477,647 (GRCm39) I255F probably benign Het
Xkr5 T A 8: 18,983,733 (GRCm39) N603I possibly damaging Het
Zfp512 C T 5: 31,637,570 (GRCm39) A497V probably benign Het
Zfp518b T C 5: 38,830,970 (GRCm39) N345S probably damaging Het
Other mutations in Gpn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Gpn1 APN 5 31,655,745 (GRCm39) missense probably damaging 0.99
IGL01431:Gpn1 APN 5 31,664,882 (GRCm39) missense probably benign 0.00
IGL01673:Gpn1 APN 5 31,652,179 (GRCm39) missense probably damaging 1.00
IGL01921:Gpn1 APN 5 31,656,612 (GRCm39) missense probably damaging 0.99
IGL03243:Gpn1 APN 5 31,668,175 (GRCm39) critical splice acceptor site probably null
IGL03343:Gpn1 APN 5 31,662,309 (GRCm39) missense probably damaging 1.00
PIT4480001:Gpn1 UTSW 5 31,654,685 (GRCm39) missense probably damaging 1.00
PIT4585001:Gpn1 UTSW 5 31,666,747 (GRCm39) nonsense probably null
R0001:Gpn1 UTSW 5 31,652,961 (GRCm39) splice site probably benign
R1301:Gpn1 UTSW 5 31,660,773 (GRCm39) missense probably damaging 1.00
R1583:Gpn1 UTSW 5 31,654,682 (GRCm39) missense possibly damaging 0.46
R1622:Gpn1 UTSW 5 31,660,748 (GRCm39) missense possibly damaging 0.85
R2860:Gpn1 UTSW 5 31,654,664 (GRCm39) missense probably damaging 1.00
R2861:Gpn1 UTSW 5 31,654,664 (GRCm39) missense probably damaging 1.00
R4627:Gpn1 UTSW 5 31,655,737 (GRCm39) nonsense probably null
R5927:Gpn1 UTSW 5 31,658,235 (GRCm39) missense probably damaging 1.00
R6613:Gpn1 UTSW 5 31,654,696 (GRCm39) critical splice donor site probably null
R6830:Gpn1 UTSW 5 31,664,832 (GRCm39) missense probably benign 0.00
R7214:Gpn1 UTSW 5 31,660,761 (GRCm39) missense probably damaging 1.00
R7372:Gpn1 UTSW 5 31,658,465 (GRCm39) missense probably damaging 0.99
R8716:Gpn1 UTSW 5 31,656,642 (GRCm39) missense probably benign
R9100:Gpn1 UTSW 5 31,655,740 (GRCm39) missense probably damaging 0.99
R9189:Gpn1 UTSW 5 31,654,710 (GRCm39) missense unknown
R9220:Gpn1 UTSW 5 31,664,884 (GRCm39) missense probably benign 0.05
X0062:Gpn1 UTSW 5 31,652,937 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTGGGGTACTACTTGGC -3'
(R):5'- GCATTGCTGAAATCTCTGATCTCTC -3'

Sequencing Primer
(F):5'- ACGGTGGCACTTGTACAATC -3'
(R):5'- AAGAGGGCGTCAGATCTCTTTAC -3'
Posted On 2015-09-25