Incidental Mutation 'IGL00839:a'
ID 8502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol a
Ensembl Gene ENSMUSG00000027596
Gene Name nonagouti
Synonyms agouti, As, ASP, agouti signal protein
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # IGL00839
Quality Score
Status
Chromosome 2
Chromosomal Location 154792519-154892932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154887593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 18 (F18I)
Ref Sequence ENSEMBL: ENSMUSP00000105319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029123] [ENSMUST00000109697] [ENSMUST00000137333] [ENSMUST00000148402]
AlphaFold Q03288
Predicted Effect probably benign
Transcript: ENSMUST00000029123
AA Change: F18I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029123
Gene: ENSMUSG00000027596
AA Change: F18I

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109697
AA Change: F18I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105319
Gene: ENSMUSG00000027596
AA Change: F18I

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132342
Predicted Effect probably benign
Transcript: ENSMUST00000137333
AA Change: F18I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596
AA Change: F18I

DomainStartEndE-ValueType
Agouti 6 70 2.53e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148300
Predicted Effect probably benign
Transcript: ENSMUST00000148402
AA Change: F18I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121072
Gene: ENSMUSG00000027596
AA Change: F18I

DomainStartEndE-ValueType
Agouti 6 75 2.32e-6 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Agouti acts in the hair follicles, primarily affecting the relative amount and distribution of yellow pigment (phaeomelanin) and black pigment (eumelanin) in hairs of the coat. Some alleles show lethal effects or are associated with obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,873 (GRCm39) S1031T probably benign Het
Acsl4 A T X: 141,122,948 (GRCm39) N421K possibly damaging Het
Ampd1 A G 3: 103,007,010 (GRCm39) E745G possibly damaging Het
Ankrd44 T C 1: 54,706,594 (GRCm39) N436D probably benign Het
Ap1s2 A G X: 162,709,951 (GRCm39) Y160C probably damaging Het
Bms1 C T 6: 118,382,252 (GRCm39) V429M probably benign Het
Cep57l1 T C 10: 41,607,089 (GRCm39) E158G probably damaging Het
Cldn34b4 T A X: 75,440,955 (GRCm39) C71S probably damaging Het
Col1a2 C T 6: 4,531,095 (GRCm39) probably benign Het
Crisp3 T G 17: 40,550,147 (GRCm39) probably null Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Defa24 T A 8: 22,224,713 (GRCm39) L54H probably damaging Het
Dennd1a A G 2: 37,706,994 (GRCm39) V504A probably benign Het
Eloa G A 4: 135,738,670 (GRCm39) R97C probably damaging Het
Espl1 T C 15: 102,228,982 (GRCm39) probably benign Het
Fgb T A 3: 82,950,598 (GRCm39) R385S possibly damaging Het
Glod4 T A 11: 76,124,104 (GRCm39) H223L probably benign Het
Hrh1 C T 6: 114,457,283 (GRCm39) T188I probably damaging Het
Hsph1 G T 5: 149,541,919 (GRCm39) A769D possibly damaging Het
Jak2 C T 19: 29,279,047 (GRCm39) P933S probably damaging Het
Lrrd1 T A 5: 3,900,017 (GRCm39) D107E probably benign Het
Osbpl8 T A 10: 111,127,371 (GRCm39) S776R probably benign Het
Pcna C T 2: 132,093,340 (GRCm39) V136I probably benign Het
Pde11a A G 2: 76,045,729 (GRCm39) F365S probably damaging Het
Pi15 A G 1: 17,691,747 (GRCm39) H183R probably damaging Het
Plce1 A G 19: 38,687,006 (GRCm39) Y638C probably damaging Het
Pnpla6 A G 8: 3,592,299 (GRCm39) D1196G probably benign Het
Pramel26 T C 4: 143,539,293 (GRCm39) T67A probably benign Het
Psg22 A G 7: 18,456,893 (GRCm39) I220V probably benign Het
Rap1gap2 A T 11: 74,328,274 (GRCm39) Y97N probably damaging Het
Taf2 A T 15: 54,909,174 (GRCm39) C690* probably null Het
Taf3 A T 2: 9,957,728 (GRCm39) D146E probably damaging Het
Tnrc6c A G 11: 117,605,011 (GRCm39) T49A possibly damaging Het
Trdn T C 10: 33,347,602 (GRCm39) probably null Het
Ttc29 C T 8: 79,060,385 (GRCm39) T435I probably benign Het
Vps37b T C 5: 124,148,814 (GRCm39) T74A possibly damaging Het
Zbtb11 T A 16: 55,820,965 (GRCm39) Y687* probably null Het
Other mutations in a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02421:a APN 2 154,892,672 (GRCm39) missense probably damaging 0.98
garfield UTSW 2 0 () unclassified
killer_whale UTSW 2 0 () unclassified
split UTSW 2 0 () unclassified
yellowbelly UTSW 2 0 () unclassified
R0670:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R2114:a UTSW 2 154,889,649 (GRCm39) missense probably benign
R4082:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R4346:a UTSW 2 154,887,651 (GRCm39) missense probably benign 0.20
R6188:a UTSW 2 154,889,602 (GRCm39) missense probably damaging 0.99
R6476:a UTSW 2 154,892,699 (GRCm39) missense probably benign 0.00
R7211:a UTSW 2 154,887,699 (GRCm39) missense probably damaging 1.00
R7295:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R8776:a UTSW 2 154,892,612 (GRCm39) missense probably damaging 0.99
R8776-TAIL:a UTSW 2 154,892,612 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06