Incidental Mutation 'IGL02400:Gm20489'
ID 291855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20489
Ensembl Gene ENSMUSG00000092463
Gene Name predicted gene 20489
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02400
Quality Score
Status
Chromosome X
Chromosomal Location 100305011-100312629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100306944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 328 (N328K)
Ref Sequence ENSEMBL: ENSMUSP00000112905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033664] [ENSMUST00000062000] [ENSMUST00000101358] [ENSMUST00000117736] [ENSMUST00000135038] [ENSMUST00000138437]
AlphaFold no structure available at present
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 benign
Transcript: ENSMUST00000101358
AA Change: N70K

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098910
Gene: ENSMUSG00000090141
AA Change: N70K

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
low complexity region 146 165 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117736
AA Change: N328K

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112905
Gene: ENSMUSG00000092463
AA Change: N328K

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 noncoding transcript
Transcript: ENSMUST00000145074
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,290,644 (GRCm39) I128V possibly damaging Het
Arfgef3 G T 10: 18,522,005 (GRCm39) Q674K probably damaging Het
Atp6v0a2 T A 5: 124,798,849 (GRCm39) N851K probably benign Het
Chrna7 A G 7: 62,749,070 (GRCm39) C471R probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Egflam T A 15: 7,276,534 (GRCm39) K544M probably benign Het
Erbb3 A C 10: 128,415,393 (GRCm39) N385K probably benign Het
Fancm A G 12: 65,160,589 (GRCm39) R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 (GRCm39) probably null Het
Gm5828 G T 1: 16,840,042 (GRCm39) noncoding transcript Het
Gnaq T C 19: 16,293,492 (GRCm39) Y145H probably damaging Het
Itgbl1 A G 14: 124,083,938 (GRCm39) D148G probably damaging Het
Myc T G 15: 61,861,760 (GRCm39) probably benign Het
Or10d5 A G 9: 39,861,635 (GRCm39) V144A probably benign Het
Or5m3b A T 2: 85,872,420 (GRCm39) I254F probably benign Het
Or6c211 A G 10: 129,505,752 (GRCm39) V212A probably damaging Het
Padi3 T G 4: 140,516,179 (GRCm39) K567T probably benign Het
Pi4ka T C 16: 17,111,748 (GRCm39) T1576A probably damaging Het
Pikfyve A G 1: 65,291,728 (GRCm39) R1316G probably damaging Het
Ryr2 A G 13: 11,620,130 (GRCm39) probably benign Het
Sash1 G A 10: 8,609,411 (GRCm39) R713* probably null Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tnfsf4 T A 1: 161,223,276 (GRCm39) C42S possibly damaging Het
Tpp1 A G 7: 105,396,238 (GRCm39) I487T possibly damaging Het
Trim43a T A 9: 88,464,165 (GRCm39) N25K probably benign Het
Tuft1 T C 3: 94,542,809 (GRCm39) probably benign Het
Usp46 T C 5: 74,197,713 (GRCm39) H26R probably benign Het
Zfp560 A T 9: 20,261,896 (GRCm39) I85N possibly damaging Het
Other mutations in Gm20489
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02025:Gm20489 APN X 100,307,290 (GRCm39) missense probably damaging 1.00
IGL02974:Gm20489 APN X 100,307,320 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16