Incidental Mutation 'IGL01820:Ivl'
ID154498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Nameinvolucrin
Synonyms1110019C06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01820
Quality Score
Status
Chromosome3
Chromosomal Location92570902-92573735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 92571633 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 375 (M375K)
Ref Sequence ENSEMBL: ENSMUSP00000059780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053107]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053107
AA Change: M375K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: M375K

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,715,896 probably benign Het
Adcy2 T C 13: 68,738,545 probably null Het
Akna G T 4: 63,386,258 T553N probably benign Het
Boc A G 16: 44,491,872 I609T possibly damaging Het
Btbd9 C T 17: 30,527,409 V148I possibly damaging Het
Cacna1d A T 14: 30,042,866 I2049N possibly damaging Het
Cdhr1 A T 14: 37,085,579 M368K probably benign Het
Cftr A G 6: 18,226,139 Y362C probably damaging Het
Cnppd1 G T 1: 75,139,592 probably null Het
Col3a1 T C 1: 45,321,608 I66T unknown Het
Col5a2 C A 1: 45,442,825 M46I unknown Het
Csmd3 G T 15: 47,607,142 C3379* probably null Het
Ctla2b T A 13: 60,896,689 *28C probably null Het
Ddhd2 C T 8: 25,749,754 E33K possibly damaging Het
Dock3 T C 9: 106,895,893 H387R probably damaging Het
Dyrk1b T A 7: 28,181,600 probably benign Het
Fam131c T C 4: 141,380,337 C53R probably damaging Het
Fat1 T A 8: 45,010,502 F1360L probably damaging Het
Gm10320 G T 13: 98,489,537 S113* probably null Het
Ifih1 T C 2: 62,617,313 D349G probably damaging Het
Il12a T C 3: 68,692,162 probably benign Het
Krt82 C A 15: 101,543,452 probably benign Het
Mc4r C T 18: 66,859,155 V296I probably benign Het
Met T A 6: 17,534,231 I691N possibly damaging Het
Mycbp2 A T 14: 103,188,501 I2396K probably damaging Het
Napg C A 18: 62,986,445 Q135K probably benign Het
Nf2 A T 11: 4,789,655 probably null Het
Nrxn1 G T 17: 90,643,103 H549Q probably damaging Het
P4ha1 T A 10: 59,361,914 I321K probably damaging Het
Prl5a1 T C 13: 28,148,700 S94P probably benign Het
Prnp T C 2: 131,937,070 V214A probably benign Het
Ptprc A T 1: 138,066,198 F1165I probably damaging Het
Rdh10 T C 1: 16,128,259 V207A possibly damaging Het
Rel A T 11: 23,753,218 N131K probably benign Het
Rgs14 A T 13: 55,383,525 D448V probably benign Het
Spag5 T G 11: 78,304,259 S131A probably benign Het
Styxl1 C T 5: 135,765,750 D88N probably damaging Het
Tlr3 C T 8: 45,398,339 R507H probably benign Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Txlnb T C 10: 17,806,858 probably null Het
Unc13a A G 8: 71,654,947 V567A probably damaging Het
Vmn1r8 T C 6: 57,036,668 S235P possibly damaging Het
Vmn2r51 T A 7: 10,105,482 N60Y probably damaging Het
Wbp1l T A 19: 46,652,483 L68Q probably damaging Het
Wdfy3 A T 5: 101,924,081 V981E probably benign Het
Zdhhc13 T C 7: 48,808,865 S316P probably damaging Het
Zfp516 C T 18: 82,987,361 R797C probably benign Het
Zp3r A G 1: 130,598,920 V182A probably benign Het
Other mutations in Ivl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Ivl APN 3 92572512 missense possibly damaging 0.68
IGL01656:Ivl APN 3 92571655 nonsense probably null
IGL03012:Ivl APN 3 92572426 missense probably benign 0.01
PIT4142001:Ivl UTSW 3 92572301 small deletion probably benign
PIT4151001:Ivl UTSW 3 92572301 small deletion probably benign
PIT4458001:Ivl UTSW 3 92572301 small insertion probably benign
R0256:Ivl UTSW 3 92571843 missense probably damaging 1.00
R0276:Ivl UTSW 3 92571514 missense unknown
R1800:Ivl UTSW 3 92572584 missense unknown
R1940:Ivl UTSW 3 92572749 missense probably benign 0.00
R1950:Ivl UTSW 3 92572113 missense possibly damaging 0.85
R2887:Ivl UTSW 3 92571392 missense unknown
R4457:Ivl UTSW 3 92572366 missense probably benign 0.03
R4561:Ivl UTSW 3 92571955 small insertion probably benign
R4562:Ivl UTSW 3 92571955 small insertion probably benign
R4698:Ivl UTSW 3 92571391 missense unknown
R4708:Ivl UTSW 3 92571750 missense probably damaging 1.00
R4885:Ivl UTSW 3 92572411 missense probably benign 0.03
R6354:Ivl UTSW 3 92571910 small deletion probably benign
R6355:Ivl UTSW 3 92571910 small deletion probably benign
R6356:Ivl UTSW 3 92571910 small deletion probably benign
R6582:Ivl UTSW 3 92571910 small deletion probably benign
R6723:Ivl UTSW 3 92571387 missense unknown
R7091:Ivl UTSW 3 92572242 missense possibly damaging 0.85
R7146:Ivl UTSW 3 92572231 missense probably damaging 0.97
R7755:Ivl UTSW 3 92572010 missense probably damaging 0.98
R7841:Ivl UTSW 3 92572392 missense possibly damaging 0.52
R8048:Ivl UTSW 3 92571924 missense probably damaging 1.00
R8171:Ivl UTSW 3 92571778 missense probably damaging 1.00
R8363:Ivl UTSW 3 92572218 missense possibly damaging 0.71
R8434:Ivl UTSW 3 92572636 missense probably benign 0.01
R8504:Ivl UTSW 3 92572771 start gained probably benign
RF013:Ivl UTSW 3 92572343 small deletion probably benign
RF031:Ivl UTSW 3 92572318 frame shift probably null
RF036:Ivl UTSW 3 92572341 frame shift probably null
RF038:Ivl UTSW 3 92572300 small deletion probably benign
RF055:Ivl UTSW 3 92572300 small deletion probably benign
Posted On2014-02-04