Incidental Mutation 'IGL03176:Gm10272'
ID411985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10272
Ensembl Gene ENSMUSG00000069584
Gene Namepredicted gene 10272
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL03176
Quality Score
Status
Chromosome10
Chromosomal Location77706626-77706975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77706633 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 3 (H3L)
Ref Sequence ENSEMBL: ENSMUSP00000090025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092371]
Predicted Effect probably null
Transcript: ENSMUST00000075421
SMART Domains Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 2.6e-8 PFAM
Pfam:Keratin_B2_2 29 74 9.2e-10 PFAM
low complexity region 92 105 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000092371
AA Change: H3L
SMART Domains Protein: ENSMUSP00000090025
Gene: ENSMUSG00000069584
AA Change: H3L

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 1.8e-7 PFAM
Pfam:Keratin_B2_2 40 83 3.7e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 C A 1: 63,563,416 P579Q probably damaging Het
Adam6a A G 12: 113,546,202 T732A probably benign Het
Ahnak T A 19: 9,008,166 N2271K possibly damaging Het
Ahnak T C 19: 9,002,449 S366P probably damaging Het
Akr1a1 A G 4: 116,639,075 L213S probably damaging Het
Ammecr1l T A 18: 31,772,049 D114E possibly damaging Het
Casq2 G T 3: 102,126,654 V167L possibly damaging Het
Cd164l2 T C 4: 133,224,254 I172T possibly damaging Het
Clec4g C T 8: 3,718,441 V97M possibly damaging Het
Dnah8 T A 17: 30,694,037 N1068K probably benign Het
Epyc A G 10: 97,649,700 M1V probably null Het
Eya3 A G 4: 132,711,922 E437G possibly damaging Het
Fbln1 C T 15: 85,244,306 T568I possibly damaging Het
Fcrl1 A T 3: 87,391,257 N353I probably damaging Het
Gm15130 A G 2: 111,148,501 S32P unknown Het
Gm20379 C A 13: 92,306,021 probably benign Het
Igf2r A T 17: 12,716,672 Y644N probably damaging Het
Krtap4-9 T C 11: 99,785,280 probably benign Het
Man2c1 A G 9: 57,140,746 N739D probably benign Het
Mcm5 C T 8: 75,109,853 T49M possibly damaging Het
Otof C T 5: 30,405,176 probably null Het
Ptgr2 C T 12: 84,307,894 T283I probably damaging Het
Rhox4c G T X: 37,480,528 G15V probably benign Het
Rnd1 A T 15: 98,670,688 L203H probably damaging Het
Rnf186 A G 4: 138,967,920 N257S probably benign Het
Rsf1 T C 7: 97,679,150 probably benign Het
Ryr2 G A 13: 11,742,023 Q1582* probably null Het
Sntg2 G A 12: 30,267,023 probably benign Het
Spata31d1c A G 13: 65,037,011 D789G probably benign Het
Strc A C 2: 121,372,180 L1168R probably damaging Het
Tmtc3 A T 10: 100,466,131 S319T possibly damaging Het
Vmn1r88 A T 7: 13,177,852 D45V probably damaging Het
Vps13d A T 4: 145,074,963 F3531I probably benign Het
Other mutations in Gm10272
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01975:Gm10272 APN 10 77706774 missense probably damaging 1.00
R0635:Gm10272 UTSW 10 77706701 intron probably benign
R4209:Gm10272 UTSW 10 77706831 missense possibly damaging 0.95
R7540:Gm10272 UTSW 10 77706626 start codon destroyed unknown
R7887:Gm10272 UTSW 10 77706945 missense probably benign 0.06
Posted On2016-08-02