Incidental Mutation 'IGL00809:Ivl'
ID 11520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Name involucrin
Synonyms 1110019C06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00809
Quality Score
Status
Chromosome 3
Chromosomal Location 92478209-92481042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92479819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 82 (Q82L)
Ref Sequence ENSEMBL: ENSMUSP00000059780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053107]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000053107
AA Change: Q82L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: Q82L

DomainStartEndE-ValueType
Pfam:Involucrin_N 1 67 2e-32 PFAM
Pfam:Involucrin2 94 134 1.3e-7 PFAM
Pfam:Involucrin2 173 211 1.9e-13 PFAM
Pfam:Involucrin2 210 249 4.1e-12 PFAM
Pfam:Involucrin2 239 278 2.9e-13 PFAM
Pfam:Involucrin2 268 306 4.1e-10 PFAM
Pfam:Involucrin2 311 351 4.6e-14 PFAM
Pfam:Involucrin2 343 376 1.3e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,983 (GRCm39) T113A possibly damaging Het
Akap10 T A 11: 61,805,897 (GRCm39) N277I possibly damaging Het
Ankrd24 A T 10: 81,478,901 (GRCm39) probably benign Het
Bfsp2 T C 9: 103,330,297 (GRCm39) E180G possibly damaging Het
Cd55 A T 1: 130,380,248 (GRCm39) Y243* probably null Het
Col17a1 G T 19: 47,669,842 (GRCm39) H103Q probably damaging Het
Diaph3 A T 14: 87,237,463 (GRCm39) H311Q probably damaging Het
Dnah1 G A 14: 31,022,766 (GRCm39) Q1124* probably null Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fzr1 G T 10: 81,206,359 (GRCm39) S137* probably null Het
Gnl3 A G 14: 30,736,146 (GRCm39) I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,443,993 (GRCm39) G65S probably damaging Het
Hsd17b7 A T 1: 169,793,324 (GRCm39) Y88* probably null Het
Itga2 C A 13: 115,014,161 (GRCm39) A256S probably damaging Het
Itga7 T C 10: 128,775,038 (GRCm39) probably null Het
Lin28a C T 4: 133,735,367 (GRCm39) G90S probably damaging Het
Lkaaear1 A T 2: 181,339,127 (GRCm39) S108T probably benign Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Osbpl9 C T 4: 108,990,960 (GRCm39) R100H probably damaging Het
Pals2 C T 6: 50,173,569 (GRCm39) R478C probably benign Het
Pclo T A 5: 14,725,811 (GRCm39) D1556E unknown Het
Phip G A 9: 82,753,356 (GRCm39) S1796F probably damaging Het
Phtf1 T C 3: 103,895,983 (GRCm39) S226P probably benign Het
Rapgef6 C A 11: 54,540,126 (GRCm39) Q734K probably damaging Het
Scn9a A T 2: 66,314,279 (GRCm39) I1802N probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Stab2 A T 10: 86,684,038 (GRCm39) probably benign Het
Trpc7 T C 13: 56,970,301 (GRCm39) I373V probably benign Het
Ttbk2 T A 2: 120,590,750 (GRCm39) D303V probably damaging Het
Ylpm1 T C 12: 85,095,968 (GRCm39) I1163T probably damaging Het
Other mutations in Ivl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Ivl APN 3 92,478,962 (GRCm39) nonsense probably null
IGL01820:Ivl APN 3 92,478,940 (GRCm39) missense possibly damaging 0.95
IGL03012:Ivl APN 3 92,479,733 (GRCm39) missense probably benign 0.01
PIT4142001:Ivl UTSW 3 92,479,608 (GRCm39) small deletion probably benign
PIT4151001:Ivl UTSW 3 92,479,608 (GRCm39) small deletion probably benign
PIT4458001:Ivl UTSW 3 92,479,608 (GRCm39) small insertion probably benign
R0256:Ivl UTSW 3 92,479,150 (GRCm39) missense probably damaging 1.00
R0276:Ivl UTSW 3 92,478,821 (GRCm39) missense unknown
R1800:Ivl UTSW 3 92,479,891 (GRCm39) missense unknown
R1940:Ivl UTSW 3 92,480,056 (GRCm39) missense probably benign 0.00
R1950:Ivl UTSW 3 92,479,420 (GRCm39) missense possibly damaging 0.85
R2887:Ivl UTSW 3 92,478,699 (GRCm39) missense unknown
R4457:Ivl UTSW 3 92,479,673 (GRCm39) missense probably benign 0.03
R4561:Ivl UTSW 3 92,479,262 (GRCm39) small insertion probably benign
R4562:Ivl UTSW 3 92,479,262 (GRCm39) small insertion probably benign
R4698:Ivl UTSW 3 92,478,698 (GRCm39) missense unknown
R4708:Ivl UTSW 3 92,479,057 (GRCm39) missense probably damaging 1.00
R4885:Ivl UTSW 3 92,479,718 (GRCm39) missense probably benign 0.03
R6354:Ivl UTSW 3 92,479,217 (GRCm39) small deletion probably benign
R6355:Ivl UTSW 3 92,479,217 (GRCm39) small deletion probably benign
R6356:Ivl UTSW 3 92,479,217 (GRCm39) small deletion probably benign
R6582:Ivl UTSW 3 92,479,217 (GRCm39) small deletion probably benign
R6723:Ivl UTSW 3 92,478,694 (GRCm39) missense unknown
R7091:Ivl UTSW 3 92,479,549 (GRCm39) missense possibly damaging 0.85
R7146:Ivl UTSW 3 92,479,538 (GRCm39) missense probably damaging 0.97
R7755:Ivl UTSW 3 92,479,317 (GRCm39) missense probably damaging 0.98
R7841:Ivl UTSW 3 92,479,699 (GRCm39) missense possibly damaging 0.52
R8048:Ivl UTSW 3 92,479,231 (GRCm39) missense probably damaging 1.00
R8171:Ivl UTSW 3 92,479,085 (GRCm39) missense probably damaging 1.00
R8363:Ivl UTSW 3 92,479,525 (GRCm39) missense possibly damaging 0.71
R8434:Ivl UTSW 3 92,479,943 (GRCm39) missense probably benign 0.01
R8504:Ivl UTSW 3 92,480,078 (GRCm39) start gained probably benign
R8677:Ivl UTSW 3 92,479,986 (GRCm39) missense probably benign 0.00
R8688:Ivl UTSW 3 92,479,608 (GRCm39) small deletion probably benign
R8691:Ivl UTSW 3 92,478,823 (GRCm39) missense unknown
RF013:Ivl UTSW 3 92,479,650 (GRCm39) small deletion probably benign
RF031:Ivl UTSW 3 92,479,625 (GRCm39) frame shift probably null
RF036:Ivl UTSW 3 92,479,648 (GRCm39) frame shift probably null
RF038:Ivl UTSW 3 92,479,607 (GRCm39) small deletion probably benign
RF055:Ivl UTSW 3 92,479,607 (GRCm39) small deletion probably benign
Posted On 2012-12-06