Incidental Mutation 'IGL02025:Gm20489'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20489
Ensembl Gene ENSMUSG00000092463
Gene Namepredicted gene 20489
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02025
Quality Score
Chromosomal Location101261405-101269023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 101263684 bp
Amino Acid Change Valine to Glycine at position 21 (V21G)
Ref Sequence ENSEMBL: ENSMUSP00000098910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033664] [ENSMUST00000062000] [ENSMUST00000101358] [ENSMUST00000117736] [ENSMUST00000135038] [ENSMUST00000138437]
Predicted Effect probably benign
Transcript: ENSMUST00000033664
SMART Domains Protein: ENSMUSP00000033664
Gene: ENSMUSG00000031304

low complexity region 2 19 N/A INTRINSIC
Pfam:IL6Ra-bind 56 151 1.1e-12 PFAM
FN3 154 235 2.44e-5 SMART
transmembrane domain 263 285 N/A INTRINSIC
low complexity region 336 350 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062000
SMART Domains Protein: ENSMUSP00000059420
Gene: ENSMUSG00000042903

FH 99 189 5.9e-44 SMART
low complexity region 318 330 N/A INTRINSIC
low complexity region 434 447 N/A INTRINSIC
Pfam:FOXO-TAD 464 504 6.4e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101358
AA Change: V21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098910
Gene: ENSMUSG00000090141
AA Change: V21G

low complexity region 14 25 N/A INTRINSIC
low complexity region 146 165 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117736
AA Change: V279G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112905
Gene: ENSMUSG00000092463
AA Change: V279G

FN3 88 169 2.44e-5 SMART
transmembrane domain 192 214 N/A INTRINSIC
Pfam:Il2rg 262 359 1.1e-32 PFAM
low complexity region 404 423 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127538
Predicted Effect probably benign
Transcript: ENSMUST00000135038
SMART Domains Protein: ENSMUSP00000123318
Gene: ENSMUSG00000031304

FN3 44 125 2.44e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138437
SMART Domains Protein: ENSMUSP00000116165
Gene: ENSMUSG00000042903

FH 53 134 1.15e-32 SMART
low complexity region 263 275 N/A INTRINSIC
low complexity region 379 392 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145074
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,733,699 probably benign Het
Akap6 A G 12: 53,140,335 T1511A probably benign Het
Casp8 A C 1: 58,824,147 I69L possibly damaging Het
Cdh23 T C 10: 60,385,143 E1274G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Depdc5 A G 5: 32,946,632 probably null Het
Dock5 A G 14: 67,763,287 S1656P probably damaging Het
Dock6 A G 9: 21,809,589 S1707P probably damaging Het
Eddm3b T A 14: 51,116,771 V72D probably damaging Het
Etl4 A G 2: 20,806,526 D1508G probably damaging Het
Gm7173 A T X: 79,510,430 S230R probably benign Het
Il16 T C 7: 83,652,848 N22S probably damaging Het
Ksr1 T C 11: 79,021,450 probably null Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Naa25 T C 5: 121,439,865 V945A probably damaging Het
Neb T C 2: 52,307,739 T501A probably benign Het
Npnt A C 3: 132,890,762 probably null Het
Nr1h5 G A 3: 102,949,626 probably benign Het
Olfr12 A G 1: 92,620,547 I214V probably benign Het
Olfr1331 G A 4: 118,869,165 C127Y probably damaging Het
Olfr1361 A G 13: 21,659,263 V20A possibly damaging Het
Opalin T C 19: 41,072,235 probably benign Het
Pls3 A T X: 75,796,495 L341H probably damaging Het
Pnp2 T A 14: 50,959,553 L32H probably damaging Het
Prpf40b T C 15: 99,314,588 F571S probably damaging Het
Prss16 A G 13: 22,003,021 S460P probably damaging Het
Sh3bp4 T C 1: 89,145,286 S619P probably benign Het
Sirpb1b C T 3: 15,548,803 R73Q probably damaging Het
Slc22a8 G A 19: 8,594,175 G90E possibly damaging Het
Tbc1d2 G A 4: 46,620,713 R366W probably damaging Het
Tns2 T A 15: 102,112,049 Y783* probably null Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp7 C T 15: 76,888,264 S55F probably damaging Het
Other mutations in Gm20489
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02400:Gm20489 APN X 101263338 missense possibly damaging 0.50
IGL02974:Gm20489 APN X 101263714 missense probably damaging 1.00
Posted On2014-05-07