Incidental Mutation 'RF055:Ivl'
ID 605227
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 # RF055 (G1)
Quality Score 217.468
Status Not validated
Chromosome 3
Chromosomal Location 92478209-92481042 bp(-) (GRCm39)
Type of Mutation small deletion (5 aa in frame mutation)
DNA Base Change (assembly) CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG to CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG at 92479607 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 benign
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: 99.3%
  • 20x: 98.6%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B430218F22Rik GGCGGCGGCGGCG GGCGGCGGCGGCGGCGGCG 13: 118,523,385 (GRCm39) probably benign Het
Bhlhb9 C T X: 134,791,239 (GRCm39) L484F possibly damaging Het
Bltp1 TTAT TTATTATTATTATTAGTAT 3: 37,104,906 (GRCm39) probably benign Het
Cul1 A T 6: 47,494,067 (GRCm39) D460V probably damaging Het
Cyb5r4 CTGCCCAGGGATGTGACAGACACA CTGCCCAGGGATGTGACAGACACAATGCCCAGGGATGTGACAGACACA 9: 86,922,467 (GRCm39) probably benign Het
Cyb5r4 CT CTTCCCAGGGATGTGACAGACACATT 9: 86,922,491 (GRCm39) probably benign Het
Dmkn GTGGTGGAAGTGGTGG GTGGTGGAAGTGGTGGAAGTTGTGGAATTGGTGGAAGTGGTGG 7: 30,466,616 (GRCm39) probably benign Het
Dnmt1 CACAGTTCCTACCTCGTT CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT 9: 20,821,424 (GRCm39) probably null Het
Dnmt1 CTACCTCGTT CTACCTCGTTTTGGGGGCGGAGCACAGTTCGTACCTCGTT 9: 20,821,432 (GRCm39) probably benign Het
Dnmt1 CCTACCTCGTT CCTACCTCGTTTTGGAGGCGGAGCACAGTTGCTACCTCGTT 9: 20,821,431 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCCGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,593 (GRCm39) probably benign Het
Gab3 TTC TTCGTC X: 74,043,616 (GRCm39) probably benign Het
Gabre CAGGCTCA C X: 71,313,783 (GRCm39) probably null Het
Garin5a GAGGA GAGGAAGGCTGGATCCTGGATACCTGGGGCTGAGGTAGGA 7: 44,149,957 (GRCm39) probably null Het
Gm16519 AAGCAG AAGCAGCAG 17: 71,236,326 (GRCm39) probably benign Het
Gm8369 GTGT GTGTTTGT 19: 11,489,112 (GRCm39) probably null Het
Gucy2d CTGGG CTGGGGGTCGTGGG 7: 98,108,248 (GRCm39) probably benign Het
Irag2 CACATTG CACATTGAGTACATTG 6: 145,119,511 (GRCm39) probably benign Het
Kmt2c TG TGCTCTCG,TGCGG 5: 25,520,770 (GRCm39) probably benign Het
Krtap28-10 GCCACA GCCACATCCACA 1: 83,019,851 (GRCm39) probably benign Het
Krtap28-10 CACAGCCACAGCC CACAGCCACAGCCGCAACAGCCACAGCC 1: 83,019,991 (GRCm39) probably benign Het
Krtap28-10 ACAGCCACCACAGCCACAGCCACCACAGC ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC 1: 83,019,983 (GRCm39) probably benign Het
Mamld1 CAG CAGGAG X: 70,162,443 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,404 (GRCm39) probably benign Het
Nefh CTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC CTCAGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,004 (GRCm39) probably benign Het
Nelfe AAGACAGAGACCGGGATCGAGACAGAGAC AAGACAGAGACCGGGATCGAGACAGAGACAGAGACCGGGATCGAGACAGAGAC 17: 35,073,038 (GRCm39) probably benign Het
Osmr CTTCT CTTCTTCT 15: 6,867,181 (GRCm39) probably benign Het
Pou3f1 GGCGGCAGCGGC GGCGGCAGCGGCAGCGGC 4: 124,551,589 (GRCm39) probably benign Het
Setd1a GGTGGTGGT GGTGGTGGTTGTGGTGGT 7: 127,384,471 (GRCm39) probably benign Het
Sgo2b G A 8: 64,396,203 (GRCm39) R18C probably damaging Het
Spata31h1 AATG AATGTCAATG 10: 82,126,827 (GRCm39) probably benign Het
Spmap2l CGA CGAACCTCCCCAGTCCCGCAAGGCCAGTGA 5: 77,164,250 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,126 (GRCm39) probably benign Het
Zscan18 GCTGGCTAGGCTCTTCCTGTTGGTTGGGTTGATCCTTCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG GCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG 7: 12,508,352 (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
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
Predicted Primers PCR Primer
(F):5'- GAATCAGTTTCTGCTCCTCTGG -3'
(R):5'- ATCAAAAGTGTGAGCACCAGC -3'

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