Incidental Mutation 'IGL02011:Arg1'
ID 183357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arg1
Ensembl Gene ENSMUSG00000019987
Gene Name arginase, liver
Synonyms Arg-1, AI, PGIF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL02011
Quality Score
Status
Chromosome 10
Chromosomal Location 24791105-24803368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24792275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 215 (T215A)
Ref Sequence ENSEMBL: ENSMUSP00000020161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000020161] [ENSMUST00000092646] [ENSMUST00000176285]
AlphaFold Q61176
Predicted Effect probably benign
Transcript: ENSMUST00000020159
SMART Domains Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 3 1310 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020161
AA Change: T215A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020161
Gene: ENSMUSG00000019987
AA Change: T215A

DomainStartEndE-ValueType
Pfam:Arginase 6 305 1.4e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092646
SMART Domains Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 4 1316 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176285
SMART Domains Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 1 51 4.4e-14 PFAM
Pfam:Med23 48 950 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218260
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a null allele show postnatal lethality, hyperammonemia, argininemia, altered plasma levels of other amino acids, enlarged pale livers, and abnormal hepatocytes. Mice homozygous for a different null allele show postnatal lethality, andincreased macrophage nitric oxide production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,318,592 (GRCm39) probably benign Het
Arhgap15 A T 2: 43,670,767 (GRCm39) K50N probably damaging Het
Ctdsp1 C T 1: 74,433,175 (GRCm39) probably benign Het
Cwc22 A T 2: 77,751,366 (GRCm39) D363E possibly damaging Het
Drd2 G T 9: 49,318,258 (GRCm39) C400F probably damaging Het
Eef1akmt1 A T 14: 57,795,555 (GRCm39) Y65N probably damaging Het
Gbp10 C A 5: 105,368,967 (GRCm39) G291W probably damaging Het
Lrit1 T A 14: 36,784,280 (GRCm39) V536E probably damaging Het
Or4d1 C A 11: 87,805,708 (GRCm39) W8L probably benign Het
Or52ab4 G T 7: 102,988,056 (GRCm39) R265L probably damaging Het
Or9s15 T A 1: 92,524,621 (GRCm39) Y127N probably damaging Het
Pcdh12 C T 18: 38,414,473 (GRCm39) G884D probably damaging Het
Pih1d1 G T 7: 44,806,156 (GRCm39) A31S probably damaging Het
Plcxd2 T C 16: 45,785,454 (GRCm39) D317G probably damaging Het
Prkaca T C 8: 84,717,565 (GRCm39) F231S probably damaging Het
Raet1d T A 10: 22,247,473 (GRCm39) I183K probably damaging Het
Scaper A G 9: 55,487,606 (GRCm39) F752S probably damaging Het
Shisa9 C T 16: 12,062,502 (GRCm39) T241I possibly damaging Het
Taar9 C T 10: 23,984,477 (GRCm39) R319H possibly damaging Het
Unkl T A 17: 25,437,565 (GRCm39) V365E probably damaging Het
Usp34 C T 11: 23,421,554 (GRCm39) S3077F probably damaging Het
Vps16 A G 2: 130,283,399 (GRCm39) I566V probably benign Het
Vrk2 T A 11: 26,421,717 (GRCm39) T414S probably benign Het
Xpnpep1 A T 19: 52,990,896 (GRCm39) probably benign Het
Zfp804a A G 2: 82,087,035 (GRCm39) Q288R probably damaging Het
Other mutations in Arg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02889:Arg1 APN 10 24,791,653 (GRCm39) missense probably damaging 0.98
R0180:Arg1 UTSW 10 24,792,728 (GRCm39) missense probably benign
R0256:Arg1 UTSW 10 24,792,356 (GRCm39) missense probably benign 0.00
R0588:Arg1 UTSW 10 24,796,522 (GRCm39) missense probably damaging 1.00
R1014:Arg1 UTSW 10 24,792,758 (GRCm39) missense probably benign
R1327:Arg1 UTSW 10 24,796,702 (GRCm39) splice site probably null
R1965:Arg1 UTSW 10 24,792,762 (GRCm39) splice site probably null
R2071:Arg1 UTSW 10 24,798,561 (GRCm39) missense probably benign 0.00
R2118:Arg1 UTSW 10 24,796,621 (GRCm39) missense possibly damaging 0.58
R4158:Arg1 UTSW 10 24,798,575 (GRCm39) missense probably damaging 1.00
R4858:Arg1 UTSW 10 24,798,536 (GRCm39) missense possibly damaging 0.73
R5741:Arg1 UTSW 10 24,793,897 (GRCm39) missense probably benign
R5793:Arg1 UTSW 10 24,796,540 (GRCm39) missense probably benign 0.36
R7453:Arg1 UTSW 10 24,791,674 (GRCm39) missense probably damaging 1.00
R7634:Arg1 UTSW 10 24,791,627 (GRCm39) missense possibly damaging 0.46
R7760:Arg1 UTSW 10 24,803,361 (GRCm39) start gained probably benign
R7803:Arg1 UTSW 10 24,792,689 (GRCm39) missense possibly damaging 0.95
R9148:Arg1 UTSW 10 24,796,655 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07