Incidental Mutation 'IGL01160:Gm3238'
ID 53790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3238
Ensembl Gene ENSMUSG00000095817
Gene Name predicted gene 3238
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01160
Quality Score
Status
Chromosome 10
Chromosomal Location 77606467-77607159 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to A at 77606717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000168298]
AlphaFold W4VSP7
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 unknown
Transcript: ENSMUST00000168298
AA Change: C148F
SMART Domains Protein: ENSMUSP00000130008
Gene: ENSMUSG00000095817
AA Change: C148F

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 5 56 4.5e-9 PFAM
Pfam:Keratin_B2_2 22 66 6.6e-10 PFAM
Pfam:Keratin_B2_2 108 155 9e-9 PFAM
Pfam:Keratin_B2_2 153 198 2e-6 PFAM
Pfam:Keratin_B2_2 183 230 2.6e-4 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a A G 8: 12,894,609 (GRCm39) T188A probably damaging Het
Bfsp2 A G 9: 103,357,367 (GRCm39) V20A probably benign Het
Btn1a1 G A 13: 23,645,907 (GRCm39) T154M possibly damaging Het
Ccdc117 T C 11: 5,481,532 (GRCm39) S200G probably benign Het
Col24a1 G A 3: 145,213,468 (GRCm39) G1358S probably damaging Het
Crlf2 T C 5: 109,705,436 (GRCm39) T40A possibly damaging Het
Cstf2 T A X: 132,961,478 (GRCm39) probably benign Het
Dcdc2a A G 13: 25,303,312 (GRCm39) D281G probably benign Het
Dmd T C X: 82,968,567 (GRCm39) L1855P probably damaging Het
Dnajc5g T C 5: 31,267,529 (GRCm39) V112A probably benign Het
Dnmt1 G A 9: 20,828,615 (GRCm39) P828S possibly damaging Het
Dock3 A T 9: 106,783,887 (GRCm39) S268R probably damaging Het
Dpep2 C T 8: 106,713,076 (GRCm39) V440M possibly damaging Het
F8 A T X: 74,331,667 (GRCm39) M741K probably damaging Het
Fermt3 C T 19: 6,980,626 (GRCm39) probably null Het
Fosb A G 7: 19,041,039 (GRCm39) probably null Het
Hyal5 T A 6: 24,876,480 (GRCm39) S118T possibly damaging Het
Igf2r T C 17: 12,923,662 (GRCm39) D1140G possibly damaging Het
Ighmbp2 G T 19: 3,326,750 (GRCm39) probably benign Het
Irf3 C A 7: 44,648,220 (GRCm39) D28E possibly damaging Het
Ly6i A T 15: 74,851,881 (GRCm39) I96N possibly damaging Het
Macrod2 T C 2: 140,666,962 (GRCm39) probably benign Het
Or2b4 A G 17: 38,116,941 (GRCm39) R302G probably benign Het
Or4c117 A T 2: 88,956,072 (GRCm39) M1K probably null Het
Or4f15 A G 2: 111,814,278 (GRCm39) L47P probably damaging Het
Or52z1 C T 7: 103,436,843 (GRCm39) G214R probably damaging Het
Otof A T 5: 30,538,879 (GRCm39) M1128K probably benign Het
Parp9 A T 16: 35,768,368 (GRCm39) I183F probably damaging Het
Pbsn T C X: 76,886,177 (GRCm39) N147S probably benign Het
Pcf11 A G 7: 92,310,894 (GRCm39) S365P possibly damaging Het
Pcnx4 T G 12: 72,626,151 (GRCm39) V1119G probably damaging Het
Qng1 A G 13: 58,529,790 (GRCm39) V274A probably damaging Het
Rsf1 C T 7: 97,334,791 (GRCm39) T1308M probably damaging Het
Sidt2 A G 9: 45,854,024 (GRCm39) L647P probably damaging Het
Slc28a2b A C 2: 122,355,277 (GRCm39) probably null Het
Slc7a8 A G 14: 54,972,581 (GRCm39) V280A probably benign Het
Spart T A 3: 55,029,177 (GRCm39) F323I probably damaging Het
Supt16 A T 14: 52,420,589 (GRCm39) D70E probably benign Het
Tmc4 T C 7: 3,678,517 (GRCm39) Y38C possibly damaging Het
Tmco5b G T 2: 113,118,143 (GRCm39) probably benign Het
Trav10 G A 14: 53,743,239 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,489,477 (GRCm39) M454K probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Yipf7 T C 5: 69,676,660 (GRCm39) I160V probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp429 G A 13: 67,539,132 (GRCm39) S91L probably damaging Het
Other mutations in Gm3238
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Gm3238 APN 10 77,607,126 (GRCm39) unclassified probably benign
IGL02252:Gm3238 APN 10 77,606,691 (GRCm39) intron probably benign
R6849:Gm3238 UTSW 10 77,606,744 (GRCm39) intron probably benign
R7699:Gm3238 UTSW 10 77,606,469 (GRCm39) makesense probably null
R7700:Gm3238 UTSW 10 77,606,469 (GRCm39) makesense probably null
R8098:Gm3238 UTSW 10 77,606,474 (GRCm39) missense unknown
Z1176:Gm3238 UTSW 10 77,606,858 (GRCm39) missense unknown
Posted On 2013-06-28