Incidental Mutation 'IGL02995:Gm21969'
ID 407105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm21969
Ensembl Gene ENSMUSG00000094439
Gene Name predicted gene 21969
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02995
Quality Score
Status
Chromosome 4
Chromosomal Location 139330497-139390002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139335009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 348 (G348S)
Ref Sequence ENSEMBL: ENSMUSP00000134062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040023] [ENSMUST00000123827] [ENSMUST00000174078] [ENSMUST00000178644]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040023
AA Change: G123S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039533
Gene: ENSMUSG00000041025
AA Change: G123S

DomainStartEndE-ValueType
Pfam:Filament 1 253 3.8e-13 PFAM
low complexity region 255 268 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123827
AA Change: G123S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133384
Gene: ENSMUSG00000041025
AA Change: G123S

DomainStartEndE-ValueType
Pfam:Filament 1 253 3.8e-13 PFAM
low complexity region 255 268 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174078
AA Change: G348S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134062
Gene: ENSMUSG00000041025
AA Change: G348S

DomainStartEndE-ValueType
low complexity region 15 36 N/A INTRINSIC
Filament 49 478 7.38e-3 SMART
low complexity region 480 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178644
AA Change: G123S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136776
Gene: ENSMUSG00000094439
AA Change: G123S

DomainStartEndE-ValueType
SCOP:d1lbva_ 1 60 5e-3 SMART
Pfam:Filament 165 253 7.3e-13 PFAM
low complexity region 255 268 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,470,456 (GRCm39) V175A probably benign Het
Adam19 G A 11: 46,027,176 (GRCm39) R603Q probably benign Het
Adam25 T C 8: 41,206,760 (GRCm39) S9P probably benign Het
Akr1e1 T A 13: 4,647,477 (GRCm39) probably benign Het
Ano8 C T 8: 71,935,761 (GRCm39) V286I possibly damaging Het
Baz1a C T 12: 54,947,232 (GRCm39) R1139H probably damaging Het
Brca2 T A 5: 150,452,953 (GRCm39) L29H probably damaging Het
Btaf1 T C 19: 36,958,535 (GRCm39) probably benign Het
C8b T A 4: 104,658,525 (GRCm39) probably benign Het
Cep295 A T 9: 15,244,608 (GRCm39) S1283T probably damaging Het
Cyp1a2 T C 9: 57,584,511 (GRCm39) *514W probably null Het
D2hgdh G T 1: 93,757,558 (GRCm39) D158Y probably damaging Het
Dennd1b G A 1: 139,008,980 (GRCm39) V228M probably damaging Het
Fgd6 T A 10: 93,881,342 (GRCm39) L732* probably null Het
Gprc6a C T 10: 51,502,895 (GRCm39) V323M probably damaging Het
Gzme T A 14: 56,356,166 (GRCm39) M111L probably damaging Het
Iars2 G T 1: 185,035,498 (GRCm39) Q581K probably benign Het
Klra17 A T 6: 129,845,647 (GRCm39) probably null Het
Klra5 A T 6: 129,883,577 (GRCm39) D93E possibly damaging Het
Lats2 T C 14: 57,937,805 (GRCm39) Y228C probably damaging Het
Lrrn3 T C 12: 41,502,216 (GRCm39) I700M probably damaging Het
Ltb A T 17: 35,414,348 (GRCm39) probably benign Het
Myo18b T C 5: 112,923,279 (GRCm39) probably benign Het
Or10a3 T A 7: 108,480,198 (GRCm39) E205V probably damaging Het
Or11l3 A G 11: 58,516,107 (GRCm39) M255T possibly damaging Het
Or12d13 A T 17: 37,647,600 (GRCm39) H174Q probably damaging Het
Or1e35 G A 11: 73,798,045 (GRCm39) T91M possibly damaging Het
Or1j17 C T 2: 36,578,644 (GRCm39) P210L possibly damaging Het
Pgap1 A C 1: 54,532,509 (GRCm39) I670S probably benign Het
Plxna4 A T 6: 32,493,530 (GRCm39) I362N probably damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Prr27 T C 5: 87,990,675 (GRCm39) S96P probably benign Het
Psip1 T A 4: 83,381,954 (GRCm39) probably benign Het
Rgs3 T A 4: 62,544,084 (GRCm39) H285Q possibly damaging Het
Ror1 T C 4: 100,191,722 (GRCm39) probably benign Het
Rps6ka5 C A 12: 100,540,258 (GRCm39) probably benign Het
Sipa1l1 T A 12: 82,404,105 (GRCm39) Y533N probably benign Het
Snx6 T C 12: 54,842,295 (GRCm39) probably benign Het
Tbc1d9 T A 8: 83,995,688 (GRCm39) probably null Het
Tek T C 4: 94,627,877 (GRCm39) probably benign Het
Tor2a T A 2: 32,651,509 (GRCm39) H241Q possibly damaging Het
Wnt5a A T 14: 28,244,871 (GRCm39) I353F probably benign Het
Other mutations in Gm21969
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Gm21969 APN 4 139,367,999 (GRCm39) critical splice donor site probably null
IGL03009:Gm21969 APN 4 139,334,965 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02