Incidental Mutation 'IGL01434:Gpt'
ID 84289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpt
Ensembl Gene ENSMUSG00000022546
Gene Name glutamic pyruvic transaminase, soluble
Synonyms Gpt-1, 1300007J06Rik, Gpt1, ALT, 2310022B03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01434
Quality Score
Status
Chromosome 15
Chromosomal Location 76580926-76583875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76582982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 321 (K321E)
Ref Sequence ENSEMBL: ENSMUSP00000155491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000036852] [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000229679] [ENSMUST00000229140] [ENSMUST00000229734] [ENSMUST00000230544] [ENSMUST00000150399] [ENSMUST00000230724] [ENSMUST00000231028]
AlphaFold Q8QZR5
Predicted Effect probably benign
Transcript: ENSMUST00000019224
SMART Domains Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080

DomainStartEndE-ValueType
Pfam:MFS_1 8 373 3e-16 PFAM
transmembrane domain 388 407 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000023203
AA Change: K342E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
AA Change: K342E

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 83 484 7.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036852
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

DomainStartEndE-ValueType
Pfam:Drc1-Sld2 4 132 2.8e-14 PFAM
low complexity region 169 187 N/A INTRINSIC
low complexity region 368 379 N/A INTRINSIC
ZnF_C2HC 394 410 5.67e-5 SMART
DEXDc 494 701 5.86e-28 SMART
HELICc 736 831 1.48e-24 SMART
Blast:DEXDc 902 1117 3e-46 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000037551
SMART Domains Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819

DomainStartEndE-ValueType
ANK 70 99 2.5e3 SMART
ANK 103 132 3.41e-3 SMART
ANK 136 165 2.66e-5 SMART
ANK 231 260 2.58e-3 SMART
ANK 264 293 4.03e-5 SMART
low complexity region 323 346 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134449
Predicted Effect probably benign
Transcript: ENSMUST00000135388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140730
Predicted Effect probably damaging
Transcript: ENSMUST00000229679
AA Change: K342E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000229140
AA Change: K102E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000229734
AA Change: K321E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229098
Predicted Effect probably benign
Transcript: ENSMUST00000150399
SMART Domains Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819

DomainStartEndE-ValueType
ANK 70 99 2.5e3 SMART
ANK 103 132 3.41e-3 SMART
ANK 136 165 2.66e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230724
Predicted Effect probably benign
Transcript: ENSMUST00000231028
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 cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]
PHENOTYPE: Electrophoretic variants are detected in C57BL/6, BALB/c and DBA/2 (a allele); in MA/J and NZB/Bl (b allele). M. m. molossinus and M. m. castaneus have either the b or c allele. In liver, GPT1 activity rises dramatically at 12-19 days to adult levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,380,297 (GRCm39) probably benign Het
Adcy7 A G 8: 89,051,472 (GRCm39) N864S probably damaging Het
Anapc7 A G 5: 122,576,279 (GRCm39) D302G probably benign Het
Atm A T 9: 53,419,107 (GRCm39) C782S probably benign Het
Bicdl1 G A 5: 115,808,215 (GRCm39) Q37* probably null Het
Cabin1 T C 10: 75,561,420 (GRCm39) D1027G possibly damaging Het
Cbl T C 9: 44,075,503 (GRCm39) I364V probably damaging Het
Ccer1 T C 10: 97,529,459 (GRCm39) S41P unknown Het
Cenpf G A 1: 189,390,065 (GRCm39) Q1256* probably null Het
Copa T A 1: 171,947,128 (GRCm39) I1093N probably benign Het
Cped1 C T 6: 22,017,004 (GRCm39) L118F probably damaging Het
Cplane2 T C 4: 140,945,964 (GRCm39) V169A probably benign Het
Cstdc4 T A 16: 36,006,777 (GRCm39) V37E probably benign Het
Dner T C 1: 84,361,731 (GRCm39) H626R probably benign Het
Ears2 G A 7: 121,662,311 (GRCm39) probably benign Het
Eif3c A G 7: 126,155,582 (GRCm39) I562T probably damaging Het
Eml6 T C 11: 29,769,090 (GRCm39) Y685C probably damaging Het
Garin1b T C 6: 29,320,700 (GRCm39) V108A probably damaging Het
Hspd1 C T 1: 55,120,285 (GRCm39) G306R probably damaging Het
Kmt2c T C 5: 25,614,306 (GRCm39) Y138C probably damaging Het
Lhcgr A G 17: 89,049,865 (GRCm39) Y554H probably damaging Het
Nell1 A T 7: 50,350,956 (GRCm39) K534N probably benign Het
Nob1 A G 8: 108,151,360 (GRCm39) probably benign Het
Or13a17 G A 7: 140,271,531 (GRCm39) A238T probably damaging Het
Phf12 C T 11: 77,914,385 (GRCm39) P60L probably damaging Het
Prkdc A G 16: 15,531,451 (GRCm39) E1358G probably benign Het
Rimbp3 A G 16: 17,029,566 (GRCm39) T997A probably benign Het
Slc9a9 T A 9: 94,901,247 (GRCm39) N393K possibly damaging Het
Sohlh2 T C 3: 55,102,582 (GRCm39) S206P probably damaging Het
Stard10 G A 7: 100,971,187 (GRCm39) V125M probably benign Het
Tff2 G T 17: 31,362,240 (GRCm39) probably null Het
Tha1 T C 11: 117,759,425 (GRCm39) T355A probably benign Het
Tmem120a G T 5: 135,765,864 (GRCm39) F127L possibly damaging Het
Tmem41b A G 7: 109,577,909 (GRCm39) probably benign Het
Tonsl T C 15: 76,515,302 (GRCm39) D1028G probably benign Het
Other mutations in Gpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Gpt APN 15 76,583,617 (GRCm39) unclassified probably benign
IGL03027:Gpt APN 15 76,582,289 (GRCm39) unclassified probably benign
R2091:Gpt UTSW 15 76,582,176 (GRCm39) missense possibly damaging 0.87
R2903:Gpt UTSW 15 76,582,666 (GRCm39) missense probably damaging 1.00
R3835:Gpt UTSW 15 76,582,783 (GRCm39) missense probably damaging 1.00
R4496:Gpt UTSW 15 76,582,663 (GRCm39) missense probably damaging 1.00
R4855:Gpt UTSW 15 76,583,485 (GRCm39) missense probably damaging 0.99
R4932:Gpt UTSW 15 76,583,040 (GRCm39) missense probably benign 0.05
R5970:Gpt UTSW 15 76,583,552 (GRCm39) splice site probably null
R6165:Gpt UTSW 15 76,582,170 (GRCm39) missense probably benign 0.28
R6914:Gpt UTSW 15 76,581,792 (GRCm39) missense probably benign
R7204:Gpt UTSW 15 76,583,199 (GRCm39) missense probably benign 0.00
R7397:Gpt UTSW 15 76,582,717 (GRCm39) missense probably benign 0.05
R7654:Gpt UTSW 15 76,582,530 (GRCm39) missense probably benign 0.37
R7808:Gpt UTSW 15 76,583,093 (GRCm39) splice site probably null
R8057:Gpt UTSW 15 76,580,972 (GRCm39) intron probably benign
R8389:Gpt UTSW 15 76,583,242 (GRCm39) missense probably damaging 1.00
R9330:Gpt UTSW 15 76,581,215 (GRCm39) missense possibly damaging 0.93
Posted On 2013-11-11