Incidental Mutation 'RF038:Ivl'
ID 604657
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 # RF038 (G1)
Quality Score 214.468
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: 98.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TGT TGTAGCTGCGGT 1: 82,891,301 (GRCm39) probably benign Het
Abcf1 CTCTTC CTC 17: 36,274,093 (GRCm39) probably benign Het
Acap3 GCATCCTGGGCTGCT GCATCCTGGGCTGCTTCATCCTGGGCTGCT 4: 155,989,549 (GRCm39) probably benign Het
AI837181 GGC GGCAGC 19: 5,475,254 (GRCm39) probably benign Het
AI837181 GCG GCGACG 19: 5,475,264 (GRCm39) probably benign Het
Cdx1 CTGCTG CTGCTGGTGCTG 18: 61,152,942 (GRCm39) probably benign Het
Cyb5r4 CCAGGGA CCAGGGATGTGACACACACACTGCGCAGGGA 9: 86,922,495 (GRCm39) probably benign Het
Dbr1 GAGGAG GAGGAGAAGGAG 9: 99,465,750 (GRCm39) probably benign Het
Dennd10 ACTC ACTCCTC 19: 60,803,056 (GRCm39) probably benign Het
Dmkn GTGGAAGTGGTGG GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG 7: 30,466,619 (GRCm39) probably benign Het
Dnaaf9 CTC CTCATC 2: 130,612,664 (GRCm39) probably null Het
Enah TGGCGGCGG TGG 1: 181,749,500 (GRCm39) probably benign Het
Flywch1 ACCCACTCCTGGTGT ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT 17: 23,981,138 (GRCm39) probably null Het
Foxd3 GGACCCTACGGCCG GG 4: 99,545,633 (GRCm39) probably benign Het
Fscb CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT 12: 64,519,343 (GRCm39) probably benign Het
Fsip2 TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA TAGATGTGAAACTCTTAGAGGTAAGA 2: 82,824,352 (GRCm39) probably null Het
Garin5a TGGGTCTGAGGGAGGA TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA 7: 44,149,946 (GRCm39) probably null Het
Gas1 CGAGGA CGAGGAGGA 13: 60,324,342 (GRCm39) probably benign Het
Gas1 AG AGATG 13: 60,324,344 (GRCm39) probably benign Het
Gm15155 CAAAAA CAAAAACAAAAAA X: 155,128,636 (GRCm39) probably null Het
Habp4 TGAGG TG 13: 64,309,976 (GRCm39) probably benign Het
Hsdl2 CACAGCTGCAG CACAGCTGCAGCAGCAGCGACAGCTGCAG 4: 59,610,648 (GRCm39) probably benign Het
Il2 CTT CTTCAAGTGGGGATT 3: 37,179,970 (GRCm39) probably null Het
Irag2 TG TGAGCACATCG 6: 145,119,516 (GRCm39) probably benign Het
Krtap28-10 CA CAACCAAA 1: 83,019,849 (GRCm39) probably benign Het
Krtap28-10 CAGCCACAGCCACCACAGCCACAGCCACCA CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA 1: 83,019,978 (GRCm39) probably benign Het
Lmx1b CATCTTGATGCCGTCCAA C 2: 33,530,521 (GRCm39) probably null Het
Mamld1 CAG CAGGAG X: 70,162,452 (GRCm39) probably benign Het
Nefh CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,027 (GRCm39) probably benign Het
Nefh GGGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,029 (GRCm39) probably benign Het
Nefh CTCACCTGGGGACTTGGC CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC 11: 4,891,040 (GRCm39) probably benign Het
Nefh GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,012 (GRCm39) probably benign Het
Nefh TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,018 (GRCm39) probably benign Het
Nefh GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,019 (GRCm39) probably benign Het
Pabpc6 AGCTGC AGC 17: 9,887,044 (GRCm39) probably benign Het
Pkhd1l1 TTTTTT TTTTTTTTGTTTTT 15: 44,421,899 (GRCm39) probably benign Het
Rassf6 TGTAGAGCAATGGGGATTC TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC 5: 90,756,783 (GRCm39) probably benign Het
Rassf6 GCAATGGGGATTC GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC 5: 90,756,789 (GRCm39) probably benign Het
Rbm12 CAGGTATTGCGGGACC CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC 2: 155,938,026 (GRCm39) probably benign Het
Sbp AAGATG AAGATGCTGACAACACAGATG 17: 24,164,358 (GRCm39) probably benign Het
Strn CCCAGTC CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC 17: 78,984,711 (GRCm39) probably null Het
Supt20 TTCAGCA TTCAGCATCAGCA 3: 54,635,068 (GRCm39) probably benign Het
Tcof1 TCCCAGAGATCCCC TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC 18: 60,966,638 (GRCm39) probably benign Het
Tfeb AGC AGCGGC 17: 48,097,030 (GRCm39) probably benign Het
Tfeb GCA GCACCA 17: 48,097,037 (GRCm39) probably benign Het
Trappc9 GCTGCTGCT GCTGCTGCTGCTGCTCCTGCTGCT 15: 72,673,172 (GRCm39) probably benign Het
Zfhx3 CAGCA CAGCACCAGAAGCA 8: 109,682,733 (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
RF055:Ivl UTSW 3 92,479,607 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GGAATCAGTTTCTGCTCCTCTGG -3'
(R):5'- TCAAAAGTGTGAGCACCAGC -3'

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