Incidental Mutation 'IGL03176:Gm10272'
ID 411985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10272
Ensembl Gene ENSMUSG00000069584
Gene Name predicted gene 10272
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL03176
Quality Score
Status
Chromosome 10
Chromosomal Location 77542460-77542809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77542467 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold F7CZ33
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: 63,602,575 (GRCm39) P579Q probably damaging Het
Adam6a A G 12: 113,509,822 (GRCm39) T732A probably benign Het
Ahnak T A 19: 8,985,530 (GRCm39) N2271K possibly damaging Het
Ahnak T C 19: 8,979,813 (GRCm39) S366P probably damaging Het
Akr1a1 A G 4: 116,496,272 (GRCm39) L213S probably damaging Het
Ammecr1l T A 18: 31,905,102 (GRCm39) D114E possibly damaging Het
Casq2 G T 3: 102,033,970 (GRCm39) V167L possibly damaging Het
Cd164l2 T C 4: 132,951,565 (GRCm39) I172T possibly damaging Het
Clec4g C T 8: 3,768,441 (GRCm39) V97M possibly damaging Het
Dnah8 T A 17: 30,913,011 (GRCm39) N1068K probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Eya3 A G 4: 132,439,233 (GRCm39) E437G possibly damaging Het
Fbln1 C T 15: 85,128,507 (GRCm39) T568I possibly damaging Het
Fcrl1 A T 3: 87,298,564 (GRCm39) N353I probably damaging Het
Gm15130 A G 2: 110,978,846 (GRCm39) S32P unknown Het
Gm20379 C A 13: 92,442,529 (GRCm39) probably benign Het
Igf2r A T 17: 12,935,559 (GRCm39) Y644N probably damaging Het
Krtap4-9 T C 11: 99,676,106 (GRCm39) probably benign Het
Man2c1 A G 9: 57,048,030 (GRCm39) N739D probably benign Het
Mcm5 C T 8: 75,836,481 (GRCm39) T49M possibly damaging Het
Otof C T 5: 30,562,520 (GRCm39) probably null Het
Ptgr2 C T 12: 84,354,668 (GRCm39) T283I probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Rnd1 A T 15: 98,568,569 (GRCm39) L203H probably damaging Het
Rnf186 A G 4: 138,695,231 (GRCm39) N257S probably benign Het
Rsf1 T C 7: 97,328,357 (GRCm39) probably benign Het
Ryr2 G A 13: 11,756,909 (GRCm39) Q1582* probably null Het
Sntg2 G A 12: 30,317,022 (GRCm39) probably benign Het
Spata31d1c A G 13: 65,184,825 (GRCm39) D789G probably benign Het
Strc A C 2: 121,202,661 (GRCm39) L1168R probably damaging Het
Tmtc3 A T 10: 100,301,993 (GRCm39) S319T possibly damaging Het
Vmn1r88 A T 7: 12,911,779 (GRCm39) D45V probably damaging Het
Vps13d A T 4: 144,801,533 (GRCm39) F3531I probably benign Het
Other mutations in Gm10272
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01975:Gm10272 APN 10 77,542,608 (GRCm39) missense probably damaging 1.00
R0635:Gm10272 UTSW 10 77,542,535 (GRCm39) intron probably benign
R4209:Gm10272 UTSW 10 77,542,665 (GRCm39) missense possibly damaging 0.95
R7540:Gm10272 UTSW 10 77,542,460 (GRCm39) start codon destroyed unknown
R7887:Gm10272 UTSW 10 77,542,779 (GRCm39) missense probably benign 0.06
R8990:Gm10272 UTSW 10 77,542,658 (GRCm39) missense probably damaging 0.98
R9687:Gm10272 UTSW 10 77,542,764 (GRCm39) missense possibly damaging 0.81
Posted On 2016-08-02