Incidental Mutation 'IGL02025:Gm20489'
ID184118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20489
Ensembl Gene ENSMUSG00000092463
Gene Namepredicted gene 20489
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02025
Quality Score
Status
ChromosomeX
Chromosomal Location101261405-101269023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 101263684 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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