Incidental Mutation 'RF031:Ivl'
ID 604356
Institutional Source Beutler Lab
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Name involucrin
Synonyms 1110019C06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF031 (G1)
Quality Score 152.468
Status Not validated
Chromosome 3
Chromosomal Location 92478209-92481042 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCTGCTGCTGCTGC to G at 92479625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000059780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053107]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000053107
SMART Domains Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 GCG GCGCCG 19: 5,475,246 (GRCm39) probably benign Het
Blm CTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC 7: 80,162,654 (GRCm39) probably benign Het
Blm CCTCCTCCTCC CCTCCTCCTCCTGCTCCTCCTCC 7: 80,162,671 (GRCm39) probably benign Het
Cyb5r4 GGGA GGGATGTGACAGACACACTGCCCATGGA 9: 86,922,498 (GRCm39) probably benign Het
Dcdc2b GCTGC GCTGCCAGGACTGC 4: 129,503,444 (GRCm39) probably benign Het
Dclre1a CTTTGCT C 19: 56,532,564 (GRCm39) probably benign Het
Dctn6 AAATCATGGCTTGCGATCT A 8: 34,572,236 (GRCm39) probably null Het
Elovl5 G T 9: 77,888,755 (GRCm39) probably null Het
Ermn AACT AACTACT 2: 57,938,078 (GRCm39) probably benign Het
Fbrsl1 G GCGTGTGCTGGTC 5: 110,526,017 (GRCm39) probably benign Het
Fgd6 ATT A 10: 93,880,187 (GRCm39) probably null Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Gab3 TCT TCTGCT X: 74,043,602 (GRCm39) probably benign Het
Gab3 TTC TTCATC X: 74,043,607 (GRCm39) probably benign Het
Gab3 CTT CTTATT X: 74,043,603 (GRCm39) probably null Het
Gm11060 CTGTGTG CTG 2: 104,922,385 (GRCm39) probably null Het
Gm5475 GGTGGAAGGAAAG GG 15: 100,325,029 (GRCm39) probably null Het
Heatr3 TAT TATTAAT 8: 88,883,085 (GRCm39) probably benign Het
Iqcf4 TTTCCTTTT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTT 9: 106,447,814 (GRCm39) probably benign Het
Kif12 GGC GGCCTCCACCCGGCGTGC 4: 63,089,662 (GRCm39) probably benign Het
L1td1 AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG AGGAGGAGGAG 4: 98,625,026 (GRCm39) probably benign Het
Lca5l CCCTGGCCCCGGCC CCC 16: 95,960,504 (GRCm39) probably null Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Mapk7 GGGGCA GGGGCACGGGCA 11: 61,381,060 (GRCm39) probably benign Het
Nf2 AAAAG A 11: 4,779,936 (GRCm39) probably null Het
Nlrp3 GGGTA G 11: 59,449,378 (GRCm39) probably null Het
Nolc1 CAGCAGC CAGCAGCAGGAGCAGC 19: 46,069,810 (GRCm39) probably benign Het
Pdik1l TTTT TTTTGTTTTTGATTT 4: 134,006,685 (GRCm39) probably null Het
Phldb3 CGCCCCCG C 7: 24,325,918 (GRCm39) probably null Het
Setd1a GGTGGTAGT GGTGGTAGTAGTGGTAGT 7: 127,384,483 (GRCm39) probably benign Het
Spmap2l CCCCAGTCCCGCAAGGCCAG CCCCAGTCCCGCAAGGCCAGCGATCCTACCCAGTCCCGCAAGGCCAG 5: 77,164,257 (GRCm39) probably benign Het
Strn CTTACCCCAGTC CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGATCCATTACCCCAGTC 17: 78,984,706 (GRCm39) probably null Het
Tcof1 TTCCCAGAGATCCCCTTGGC TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTATCCCAGAGATCCCCTTGGC 18: 60,966,637 (GRCm39) probably benign Het
Tcof1 AGC AGCGGC 18: 60,968,817 (GRCm39) probably benign Het
Tedc2 AGGAACCCT AGGAACCCTGGAACCCT 17: 24,435,213 (GRCm39) probably benign Het
Tmem59 T TGTTTGTTG 4: 107,047,729 (GRCm39) probably benign Het
Zfhx3 C CCGCAGCAAA 8: 109,682,730 (GRCm39) probably benign Het
Zfp335 TCGTCGTC TCGTCGTCGTC 2: 164,749,383 (GRCm39) probably benign 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
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
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'- GGAGTTTTCTGCTGCTGACC -3'
(R):5'- CTGATCAAAAGTGTGAGCACCAG -3'

Sequencing Primer
(F):5'- TGACCCAGATGCAGTTCTG -3'
(R):5'- TGTGAGCACCAGCAGCAG -3'
Posted On 2019-12-04