Incidental Mutation 'IGL02543:Gm28778'
ID 298298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28778
Ensembl Gene ENSMUSG00000100679
Gene Name predicted gene 28778
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02543
Quality Score
Status
Chromosome 1
Chromosomal Location 53297111-53318035 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53299043 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 22 (M22T)
Ref Sequence ENSEMBL: ENSMUSP00000141087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027266] [ENSMUST00000027267] [ENSMUST00000126412] [ENSMUST00000126590] [ENSMUST00000128337] [ENSMUST00000135246] [ENSMUST00000190734]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027266
AA Change: M22T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027266
Gene: ENSMUSG00000026097
AA Change: M22T

DomainStartEndE-ValueType
Pfam:ORMDL 11 146 2.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027267
SMART Domains Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126412
Predicted Effect probably benign
Transcript: ENSMUST00000126590
SMART Domains Protein: ENSMUSP00000120670
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
Pfam:HATPase_c 16 80 5.3e-13 PFAM
Pfam:HATPase_c_3 18 79 1.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128337
SMART Domains Protein: ENSMUSP00000115352
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 114 1.13e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135246
SMART Domains Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188890
Predicted Effect probably benign
Transcript: ENSMUST00000190734
AA Change: M22T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141087
Gene: ENSMUSG00000100679
AA Change: M22T

DomainStartEndE-ValueType
Pfam:ORMDL 11 123 4.4e-38 PFAM
Pfam:Peptidase_M22 174 233 3.9e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,918,095 A193S probably damaging Het
Adcy4 T C 14: 55,769,170 T1069A probably benign Het
Arg2 A T 12: 79,150,759 I184F probably benign Het
Asb18 G A 1: 90,014,391 P63S probably damaging Het
Cd163l1 A G 7: 140,220,578 M91V probably benign Het
Cep85 T C 4: 134,156,323 H85R possibly damaging Het
Chfr A G 5: 110,143,547 probably null Het
Cog2 A G 8: 124,529,959 N148S probably benign Het
Csgalnact1 T C 8: 68,461,068 T162A probably damaging Het
Ddi1 C T 9: 6,266,183 G62D possibly damaging Het
Dhx33 T C 11: 70,987,240 Y435C probably damaging Het
Dsc3 A T 18: 19,965,828 C765S probably benign Het
Egfem1 T A 3: 29,668,380 D362E probably benign Het
Gm10093 A G 17: 78,491,874 E98G probably damaging Het
Gm28040 A T 1: 133,319,331 I26F possibly damaging Het
Hipk2 A G 6: 38,703,501 I968T possibly damaging Het
Hlx T G 1: 184,730,751 S235R probably damaging Het
Jag1 T C 2: 137,091,947 probably benign Het
Kdr A G 5: 75,964,947 probably benign Het
Klhl3 T C 13: 58,018,871 E435G probably damaging Het
L3mbtl4 T C 17: 68,461,612 probably benign Het
Large1 T A 8: 73,048,414 M223L probably benign Het
Lrp1b T C 2: 40,870,401 K2838E possibly damaging Het
Ncan T C 8: 70,108,571 D582G probably benign Het
Nedd9 T C 13: 41,316,735 D314G probably damaging Het
Nip7 T C 8: 107,058,193 probably benign Het
Olfr1408 T G 1: 173,130,334 K294N probably damaging Het
Olfr629 A T 7: 103,740,503 C246S possibly damaging Het
Olfr8 C A 10: 78,955,939 H245N probably damaging Het
P3h1 T C 4: 119,237,856 probably benign Het
Pcp4l1 C T 1: 171,175,564 probably benign Het
Plekhm2 C T 4: 141,642,019 G118D probably benign Het
Prkg1 T C 19: 30,624,734 D374G possibly damaging Het
Ptcd1 A G 5: 145,154,687 L534P possibly damaging Het
Rnf123 A G 9: 108,066,348 S563P probably damaging Het
Sdk2 A T 11: 113,868,921 I418N possibly damaging Het
Slc26a4 A G 12: 31,528,689 I655T possibly damaging Het
Syne1 T C 10: 5,043,618 K524R probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tbc1d22a C T 15: 86,239,171 A135V probably benign Het
Tenm3 A C 8: 48,298,956 W942G probably damaging Het
Thsd7b G A 1: 130,165,103 V1247I probably benign Het
Treml1 A G 17: 48,360,431 T115A possibly damaging Het
Ttn T C 2: 76,709,962 T34227A probably benign Het
Ugt2b38 T A 5: 87,423,483 D230V probably benign Het
Vmn1r203 G A 13: 22,524,904 G285D probably damaging Het
Vmn2r76 A G 7: 86,230,148 S315P probably benign Het
Vmn2r98 T G 17: 19,065,821 S194A probably benign Het
Wdr1 G A 5: 38,545,822 S137F probably damaging Het
Wnt7b C T 15: 85,558,896 probably benign Het
Zfp668 A T 7: 127,868,322 C27* probably null Het
Other mutations in Gm28778
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Gm28778 APN 1 53299118 missense probably benign 0.26
IGL02028:Gm28778 APN 1 53317961 missense possibly damaging 0.53
Posted On 2015-04-16