Incidental Mutation 'R7841:Ivl'
ID 606280
Institutional Source Beutler Lab
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Name involucrin
Synonyms 1110019C06Rik
MMRRC Submission 045895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7841 (G1)
Quality Score 208.009
Status Not validated
Chromosome 3
Chromosomal Location 92478209-92481042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92479699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 122 (Q122L)
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: Q122L

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: Q122L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T C 5: 103,802,806 (GRCm39) K16R possibly damaging Het
2810408A11Rik A G 11: 69,790,112 (GRCm39) F210L probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
B9d1 A G 11: 61,397,192 (GRCm39) Y29C possibly damaging Het
Cald1 T C 6: 34,722,696 (GRCm39) F115L unknown Het
Ccnd1 A T 7: 144,491,718 (GRCm39) M107K probably damaging Het
Ccnh G A 13: 85,337,712 (GRCm39) A20T probably benign Het
Cep162 T C 9: 87,126,369 (GRCm39) D181G probably benign Het
Cep44 AACGC A 8: 56,994,018 (GRCm39) probably null Het
Ces2b A G 8: 105,561,692 (GRCm39) D262G probably benign Het
Cic A G 7: 24,985,192 (GRCm39) Y1146C probably damaging Het
Cmtm1 G A 8: 105,036,108 (GRCm39) R174C possibly damaging Het
Cobl G T 11: 12,203,324 (GRCm39) P1126H probably damaging Het
Col14a1 T A 15: 55,245,876 (GRCm39) M460K unknown Het
Cst11 G A 2: 148,613,227 (GRCm39) R33W possibly damaging Het
Cyp19a1 A T 9: 54,079,089 (GRCm39) V340E probably benign Het
Dbt A T 3: 116,339,746 (GRCm39) Q378L possibly damaging Het
Dchs1 A G 7: 105,412,180 (GRCm39) V1312A probably benign Het
Eif3l T C 15: 78,973,779 (GRCm39) M398T probably benign Het
Faxc A G 4: 21,958,584 (GRCm39) H247R probably benign Het
Fbxl17 T C 17: 63,794,820 (GRCm39) R421G probably damaging Het
Fbxo3 T A 2: 103,890,337 (GRCm39) D450E unknown Het
Fmn1 T C 2: 113,359,810 (GRCm39) probably null Het
Foxs1 T A 2: 152,774,907 (GRCm39) M49L possibly damaging Het
Gucy1a2 A G 9: 3,634,766 (GRCm39) E270G probably benign Het
Helz2 T C 2: 180,874,695 (GRCm39) D1933G probably damaging Het
Hspa4 G A 11: 53,157,887 (GRCm39) A572V possibly damaging Het
Ica1 T A 6: 8,737,072 (GRCm39) D174V probably damaging Het
Igfbp6 A T 15: 102,056,352 (GRCm39) Q137L possibly damaging Het
Il1r2 T C 1: 40,144,628 (GRCm39) L105P probably damaging Het
Iqca1 A T 1: 89,987,337 (GRCm39) C72S Het
Itgbl1 T C 14: 124,209,645 (GRCm39) probably null Het
Kdsr T C 1: 106,671,415 (GRCm39) E198G probably damaging Het
Lama2 T C 10: 27,031,529 (GRCm39) T1510A probably benign Het
Lrrc37a A T 11: 103,391,931 (GRCm39) Y1165N probably benign Het
Mycbp2 A G 14: 103,384,267 (GRCm39) probably null Het
Myh3 A G 11: 66,989,518 (GRCm39) E1546G probably damaging Het
Nacad A T 11: 6,551,031 (GRCm39) V720E probably benign Het
Napa A G 7: 15,849,559 (GRCm39) D257G possibly damaging Het
Nif3l1 T C 1: 58,487,042 (GRCm39) V76A probably damaging Het
Nkapd1 A C 9: 50,521,716 (GRCm39) S68R probably damaging Het
Nphp4 G A 4: 152,581,140 (GRCm39) S108N probably benign Het
Npr1 A T 3: 90,362,175 (GRCm39) L990H probably damaging Het
Nup205 A G 6: 35,224,372 (GRCm39) R322G unknown Het
Or4a79 C A 2: 89,552,309 (GRCm39) A49S probably benign Het
Or4q3 G T 14: 50,583,285 (GRCm39) Q174K probably benign Het
Or52n2c T A 7: 104,574,066 (GRCm39) I302F possibly damaging Het
Or8c14-ps1 T G 9: 38,101,777 (GRCm39) M252R unknown Het
Or8c19-ps1 T A 9: 38,220,817 (GRCm39) V242E unknown Het
Ovch2 G T 7: 107,393,298 (GRCm39) Q192K probably benign Het
Pcca T A 14: 122,800,384 (GRCm39) D91E probably benign Het
Pole2 T C 12: 69,251,032 (GRCm39) T444A probably damaging Het
Ppip5k1 T C 2: 121,173,276 (GRCm39) K466E probably benign Het
Prr35 A T 17: 26,167,458 (GRCm39) Y26* probably null Het
Ptgfrn A T 3: 100,968,126 (GRCm39) I489N probably damaging Het
Rassf1 A G 9: 107,438,744 (GRCm39) *341W probably null Het
Ret G A 6: 118,132,321 (GRCm39) P1040S probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Slc6a17 A T 3: 107,384,214 (GRCm39) Y377N possibly damaging Het
Snrnp200 C A 2: 127,078,754 (GRCm39) D1806E probably benign Het
Synj2 G A 17: 6,094,419 (GRCm39) R1215H unknown Het
Tbc1d5 TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG TTGCTGCTG 17: 51,106,950 (GRCm39) probably benign Het
Top2a A T 11: 98,913,176 (GRCm39) D85E probably damaging Het
Tram1l1 A T 3: 124,115,353 (GRCm39) Q171L probably damaging Het
Tram1l1 G T 3: 124,115,354 (GRCm39) Q171H probably damaging Het
Tspyl4 A G 10: 34,174,267 (GRCm39) H253R probably damaging Het
Ttn T C 2: 76,662,490 (GRCm39) I23V Het
Ubr5 T C 15: 37,981,150 (GRCm39) N2376D Het
Ugt2b37 T C 5: 87,398,489 (GRCm39) N316D probably benign Het
Usp31 A C 7: 121,247,679 (GRCm39) S1255A probably benign Het
Usp31 A T 7: 121,276,535 (GRCm39) V334E probably damaging Het
Vmn2r108 A G 17: 20,690,305 (GRCm39) probably null Het
Vmn2r87 T A 10: 130,333,095 (GRCm39) T52S probably benign Het
Vrk2 C A 11: 26,421,457 (GRCm39) L500F probably damaging Het
Zan T A 5: 137,435,064 (GRCm39) I2110F unknown Het
Other mutations in Ivl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Ivl APN 3 92,479,819 (GRCm39) missense possibly damaging 0.68
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
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
Predicted Primers PCR Primer
(F):5'- GATGCAGTTCTGGATCCTGC -3'
(R):5'- CCAAACCCTGTGAAGGATCTGC -3'

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