Incidental Mutation 'R7887:Gm10272'
ID 609127
Institutional Source Beutler Lab
Gene Symbol Gm10272
Ensembl Gene ENSMUSG00000069584
Gene Name predicted gene 10272
Synonyms
MMRRC Submission 045939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R7887 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 77542460-77542809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77542779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 107 (P107L)
Ref Sequence ENSEMBL: ENSMUSP00000090025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092371]
AlphaFold F7CZ33
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000092371
AA Change: P107L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090025
Gene: ENSMUSG00000069584
AA Change: P107L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh8 T A 9: 3,385,343 (GRCm39) I580N probably damaging Het
Ankrd35 C T 3: 96,592,216 (GRCm39) T834M probably damaging Het
Astn2 C T 4: 65,563,103 (GRCm39) V893I possibly damaging Het
B4galt1 A G 4: 40,823,501 (GRCm39) Y197H probably benign Het
Brdt T C 5: 107,507,799 (GRCm39) S676P possibly damaging Het
Chrdl2 T C 7: 99,678,457 (GRCm39) V343A possibly damaging Het
Clcn3 A T 8: 61,394,433 (GRCm39) M59K probably benign Het
Cpne4 A T 9: 104,909,990 (GRCm39) N529I probably damaging Het
Crcp G T 5: 130,066,711 (GRCm39) K32N possibly damaging Het
Ddx54 C T 5: 120,765,268 (GRCm39) R846C probably damaging Het
Dennd6a T C 14: 26,320,812 (GRCm39) S118P possibly damaging Het
Egr3 A G 14: 70,316,651 (GRCm39) Y116C probably damaging Het
Fbxw25 A G 9: 109,478,662 (GRCm39) probably null Het
Focad T G 4: 88,100,853 (GRCm39) I313M probably damaging Het
Gpr26 A C 7: 131,568,702 (GRCm39) I16L probably benign Het
Gpr39 C A 1: 125,605,279 (GRCm39) T69K probably damaging Het
Hacl1 C T 14: 31,356,184 (GRCm39) G97S probably damaging Het
Idh3b A C 2: 130,123,678 (GRCm39) D136E probably damaging Het
Irf6 G A 1: 192,850,040 (GRCm39) V321M probably damaging Het
Klrg2 T A 6: 38,613,506 (GRCm39) T166S probably damaging Het
Lnx2 T C 5: 146,955,853 (GRCm39) I648V probably damaging Het
Mecr A G 4: 131,588,177 (GRCm39) probably null Het
Mnat1 T A 12: 73,234,965 (GRCm39) S205T probably benign Het
Mpnd G A 17: 56,318,097 (GRCm39) G204D probably benign Het
Myh7 C T 14: 55,221,119 (GRCm39) E935K possibly damaging Het
Nid1 G T 13: 13,674,318 (GRCm39) R899L possibly damaging Het
Nisch C T 14: 30,898,652 (GRCm39) W664* probably null Het
Nudt6 C T 3: 37,466,529 (GRCm39) V157I possibly damaging Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or51h7 A C 7: 102,591,358 (GRCm39) L142R possibly damaging Het
Or5l13 T C 2: 87,780,224 (GRCm39) M118V probably damaging Het
Or8g31-ps1 A T 9: 39,276,175 (GRCm39) M107L unknown Het
Parg T A 14: 31,939,619 (GRCm39) D548E possibly damaging Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Phf11d A G 14: 59,597,029 (GRCm39) Y57H probably damaging Het
Prkaca T C 8: 84,713,524 (GRCm39) V99A probably benign Het
Rnf144b T A 13: 47,393,287 (GRCm39) C209S probably damaging Het
Scly G A 1: 91,228,363 (GRCm39) probably null Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sphkap T C 1: 83,255,133 (GRCm39) Y872C probably benign Het
Ssh1 C T 5: 114,099,410 (GRCm39) probably null Het
Strap T G 6: 137,716,807 (GRCm39) L129V possibly damaging Het
Sympk T C 7: 18,768,364 (GRCm39) I111T possibly damaging Het
Tprn C A 2: 25,154,024 (GRCm39) A442E probably damaging Het
Tsen34 T C 7: 3,697,707 (GRCm39) L36P probably damaging Het
Ubr4 T C 4: 139,135,121 (GRCm39) F818L probably damaging Het
Uggt1 T C 1: 36,247,115 (GRCm39) Y294C probably damaging Het
Usp20 A G 2: 30,910,906 (GRCm39) K862E probably benign Het
Vmn1r201 A T 13: 22,658,956 (GRCm39) I57F probably damaging Het
Wdr64 C T 1: 175,613,111 (GRCm39) A662V not run Het
Other mutations in Gm10272
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01975:Gm10272 APN 10 77,542,608 (GRCm39) missense probably damaging 1.00
IGL03176:Gm10272 APN 10 77,542,467 (GRCm39) missense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACCAAGTGACCTGCTGTGTG -3'
(R):5'- GCCACTTTATTTAGCACAGGG -3'

Sequencing Primer
(F):5'- CTGTGTGCCTGTGAGCTAC -3'
(R):5'- CCACTTTATTTAGCACAGGGAGTAAG -3'
Posted On 2019-12-20