Incidental Mutation 'R6356:Ivl'
ID 512999
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 # R6356 (G1)
Quality Score 217.468
Status Not validated
Chromosome 3
Chromosomal Location 92478209-92481042 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) CCTGCTGCTGCTGCT to CCTGCTGCTGCT at 92479217 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.9%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,161,292 (GRCm39) S152T probably benign Het
Aass A G 6: 23,093,901 (GRCm39) V140A probably damaging Het
Add1 A G 5: 34,776,740 (GRCm39) N32S probably null Het
Agap2 T C 10: 126,918,865 (GRCm39) S414P unknown Het
Arhgef38 A G 3: 132,846,638 (GRCm39) F376L probably benign Het
Cd22 A T 7: 30,577,127 (GRCm39) I60N probably damaging Het
Cdh23 T A 10: 60,274,626 (GRCm39) D488V probably damaging Het
Cfap251 G A 5: 123,392,729 (GRCm39) probably benign Het
Cox16 T G 12: 81,519,115 (GRCm39) D148A probably damaging Het
Dclre1b G A 3: 103,715,471 (GRCm39) T9I probably damaging Het
Dennd4c T C 4: 86,743,686 (GRCm39) V1176A probably benign Het
Echdc1 A C 10: 29,220,522 (GRCm39) probably null Het
Efcab3 A G 11: 104,784,533 (GRCm39) K2772E probably benign Het
Efnb3 G A 11: 69,446,966 (GRCm39) A248V probably benign Het
Glud1 A G 14: 34,033,173 (GRCm39) R107G probably benign Het
Gtf2h4 A G 17: 35,980,647 (GRCm39) S279P probably damaging Het
Hectd1 A G 12: 51,791,402 (GRCm39) C2579R probably damaging Het
Igkv15-103 A G 6: 68,414,441 (GRCm39) probably benign Het
Krtap5-2 T C 7: 141,729,119 (GRCm39) probably benign Het
Lcn11 G T 2: 25,668,132 (GRCm39) G97* probably null Het
Lrrtm3 G A 10: 63,765,943 (GRCm39) T548M probably benign Het
Map3k2 A T 18: 32,345,023 (GRCm39) T283S probably damaging Het
Mast4 T C 13: 102,872,493 (GRCm39) K2292E possibly damaging Het
Med23 G T 10: 24,764,311 (GRCm39) C98F probably damaging Het
Morc1 T A 16: 48,257,652 (GRCm39) F26Y probably damaging Het
Muc5ac T A 7: 141,366,416 (GRCm39) M2160K probably benign Het
Myocd T C 11: 65,109,396 (GRCm39) probably null Het
Nup160 T A 2: 90,542,279 (GRCm39) probably null Het
Obi1 A G 14: 104,716,313 (GRCm39) S687P probably damaging Het
Olr1 A T 6: 129,470,522 (GRCm39) L215Q probably benign Het
Or5ak23 T A 2: 85,245,031 (GRCm39) Q64L probably damaging Het
Or6c216 T A 10: 129,678,477 (GRCm39) S145C probably benign Het
Pik3c2a T C 7: 115,947,440 (GRCm39) K1414R possibly damaging Het
Ppfibp2 T C 7: 107,280,976 (GRCm39) V96A probably benign Het
Prim1 T A 10: 127,859,704 (GRCm39) Y299N probably damaging Het
Rsf1 T C 7: 97,311,141 (GRCm39) S624P probably benign Het
Samd4b A T 7: 28,101,018 (GRCm39) I687N probably damaging Het
Sbf2 A T 7: 109,971,830 (GRCm39) F801L probably damaging Het
St6gal2 T C 17: 55,789,014 (GRCm39) I16T probably damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Trim8 T G 19: 46,503,797 (GRCm39) S450A probably benign Het
Trp53bp2 A G 1: 182,276,562 (GRCm39) T848A probably benign Het
Vmn2r24 A G 6: 123,783,368 (GRCm39) S523G possibly damaging Het
Vmn2r52 T A 7: 9,902,926 (GRCm39) M501L probably benign Het
Vmn2r68 C T 7: 84,883,048 (GRCm39) V235M possibly damaging Het
Zfhx3 G A 8: 109,673,251 (GRCm39) V1434M probably damaging Het
Zmym5 A T 14: 57,031,622 (GRCm39) N495K possibly damaging 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
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
RF055:Ivl UTSW 3 92,479,607 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TTGCAGTTCTGGTTCCTGAC -3'
(R):5'- CTGATTCCAGGAGAAAAGCAGC -3'

Sequencing Primer
(F):5'- TGGTTCCTGACACTCCTGG -3'
(R):5'- CACCAGGAGCCACAGGAG -3'
Posted On 2018-04-27