Incidental Mutation 'R5550:Adig'
ID 435077
Institutional Source Beutler Lab
Gene Symbol Adig
Ensembl Gene ENSMUSG00000044405
Gene Name adipogenin
Synonyms SMAF1
MMRRC Submission 043107-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5550 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 158344532-158350118 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 158349880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059889] [ENSMUST00000099133] [ENSMUST00000109484] [ENSMUST00000165398]
AlphaFold Q8R400
Predicted Effect probably benign
Transcript: ENSMUST00000059889
SMART Domains Protein: ENSMUSP00000051732
Gene: ENSMUSG00000044405

DomainStartEndE-ValueType
Pfam:Adipogenin 1 79 5.8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099133
SMART Domains Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625

DomainStartEndE-ValueType
low complexity region 123 143 N/A INTRINSIC
RhoGAP 340 519 1.84e-47 SMART
Predicted Effect unknown
Transcript: ENSMUST00000109484
AA Change: I54F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148187
Predicted Effect probably benign
Transcript: ENSMUST00000165398
SMART Domains Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625

DomainStartEndE-ValueType
low complexity region 120 140 N/A INTRINSIC
RhoGAP 337 516 1.84e-47 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,900,129 (GRCm39) I1295M probably benign Het
Adgrb2 G T 4: 129,908,727 (GRCm39) probably null Het
Atp5po C A 16: 91,727,292 (GRCm39) V15F probably damaging Het
Bdh2 A G 3: 134,994,074 (GRCm39) K52R probably benign Het
Bud23 A G 5: 135,092,744 (GRCm39) V27A probably benign Het
Ces2b A G 8: 105,565,069 (GRCm39) D551G probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Dio3 A T 12: 110,246,560 (GRCm39) T299S probably benign Het
Dnah1 T A 14: 31,038,665 (GRCm39) I139F probably benign Het
Dpy30 A G 17: 74,622,920 (GRCm39) Y21H probably benign Het
Gbp4 C T 5: 105,269,911 (GRCm39) V306M probably damaging Het
Gcat G A 15: 78,926,411 (GRCm39) V94M probably benign Het
H2bc27 A G 11: 58,840,146 (GRCm39) *127W probably null Het
Henmt1 A G 3: 108,861,184 (GRCm39) Y69C probably damaging Het
Kank4 A G 4: 98,659,678 (GRCm39) F800S probably benign Het
Lrrc37a T A 11: 103,389,003 (GRCm39) T2141S unknown Het
Map3k4 G A 17: 12,462,445 (GRCm39) R1143* probably null Het
Mdc1 A G 17: 36,156,776 (GRCm39) D61G possibly damaging Het
Nfkbid T A 7: 30,125,426 (GRCm39) L303Q probably damaging Het
Or2ag15 T C 7: 106,340,340 (GRCm39) N267S probably benign Het
Or6c75 A G 10: 129,337,652 (GRCm39) N300D probably damaging Het
P2ry1 T C 3: 60,911,232 (GRCm39) C124R probably damaging Het
Sntg1 C T 1: 8,695,008 (GRCm39) C153Y probably damaging Het
Speg A T 1: 75,405,744 (GRCm39) T2983S probably damaging Het
Tbc1d2 G A 4: 46,646,138 (GRCm39) P163S probably benign Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnks2 T A 19: 36,839,746 (GRCm39) V78E probably damaging Het
Trip12 A G 1: 84,738,820 (GRCm39) C709R probably damaging Het
Xpo5 T A 17: 46,545,418 (GRCm39) V828D possibly damaging Het
Other mutations in Adig
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Adig APN 2 158,344,709 (GRCm39) missense possibly damaging 0.52
R7238:Adig UTSW 2 158,347,773 (GRCm39) missense unknown
R7396:Adig UTSW 2 158,347,836 (GRCm39) missense unknown
R9083:Adig UTSW 2 158,347,709 (GRCm39) splice site probably benign
R9273:Adig UTSW 2 158,349,890 (GRCm39) makesense probably null
R9273:Adig UTSW 2 158,347,727 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAACCTCTCTGTCTGATATGACTCTG -3'
(R):5'- CTGTGAGTTGACTGGCCAAC -3'

Sequencing Primer
(F):5'- GGTTTGAACCCAGAGTCTCAAGC -3'
(R):5'- CAACTGGCCCCCATAAGC -3'
Posted On 2016-10-24