Incidental Mutation 'R6355:Ivl'
ID 512325
Institutional Source Beutler Lab
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Name involucrin
Synonyms 1110019C06Rik
MMRRC Submission 044507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6355 (G1)
Quality Score 217.468
Status 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: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 98% (41/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a T G 13: 30,565,482 (GRCm39) F182L probably benign Het
Ahnak A G 19: 8,986,126 (GRCm39) E2470G probably benign Het
Arhgap20 T C 9: 51,755,020 (GRCm39) W418R probably damaging Het
Arhgap29 A G 3: 121,804,907 (GRCm39) D832G possibly damaging Het
Btbd2 A G 10: 80,481,183 (GRCm39) F325L possibly damaging Het
Chrna10 A T 7: 101,762,292 (GRCm39) probably null Het
Cyp26a1 T C 19: 37,687,377 (GRCm39) I188T possibly damaging Het
Dnajc13 A G 9: 104,080,469 (GRCm39) C871R probably damaging Het
Efcab3 T C 11: 104,896,511 (GRCm39) S4287P probably benign Het
Gm5519 A T 19: 33,802,471 (GRCm39) *171C probably null Het
Gnat1 C A 9: 107,554,623 (GRCm39) V81F probably benign Het
Gorab G A 1: 163,214,138 (GRCm39) A264V probably damaging Het
Ift172 A T 5: 31,441,501 (GRCm39) V211E probably benign Het
Kif26b A C 1: 178,743,743 (GRCm39) S1280R probably damaging Het
Lce3e C T 3: 92,875,042 (GRCm39) probably benign Het
Magi1 A G 6: 94,260,177 (GRCm39) Y43H probably benign Het
Mon2 T A 10: 122,858,825 (GRCm39) M829L possibly damaging Het
Nmd3 G A 3: 69,636,680 (GRCm39) V96I probably benign Het
Ogfod1 T C 8: 94,789,610 (GRCm39) M437T probably benign Het
Or4f54 A G 2: 111,123,230 (GRCm39) I206V probably benign Het
Or5m9b T A 2: 85,905,216 (GRCm39) I44K probably benign Het
Or6b2 T C 1: 92,407,702 (GRCm39) T214A probably benign Het
Pabpc2 A G 18: 39,907,445 (GRCm39) S237G probably damaging Het
Parp4 T A 14: 56,839,757 (GRCm39) D488E possibly damaging Het
Phldb2 C T 16: 45,645,701 (GRCm39) M293I probably damaging Het
Poc1b G A 10: 98,965,436 (GRCm39) E80K probably damaging Het
Prdm5 C A 6: 65,860,578 (GRCm39) Q421K probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm39) E479G possibly damaging Het
Ralgapa1 A G 12: 55,745,639 (GRCm39) S1239P probably damaging Het
Robo3 A G 9: 37,330,235 (GRCm39) V1052A possibly damaging Het
Satb2 G T 1: 56,987,356 (GRCm39) D83E probably damaging Het
Sccpdh T C 1: 179,498,165 (GRCm39) S70P probably benign Het
Scn3a A G 2: 65,291,643 (GRCm39) F1701S probably damaging Het
Srsf9 A G 5: 115,465,368 (GRCm39) M1V probably null Het
Stk32a T A 18: 43,430,659 (GRCm39) probably null Het
Sult2a5 A C 7: 13,396,462 (GRCm39) Y183S probably benign Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Tnip2 G A 5: 34,656,541 (GRCm39) Q255* probably null Het
Vmn1r26 A G 6: 57,985,536 (GRCm39) W218R probably benign Het
Vmn2r61 A G 7: 41,916,659 (GRCm39) Y424C probably benign Het
Vmn2r86 T A 10: 130,291,763 (GRCm39) M1L probably damaging Het
Wnt3a A T 11: 59,166,058 (GRCm39) I74N probably damaging Het
Zfyve1 A T 12: 83,641,415 (GRCm39) H80Q 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
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
RF055:Ivl UTSW 3 92,479,607 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GCAGTTCTGGTTCCTGACAC -3'
(R):5'- CTGATTCCAGGAGAAAAGCAGC -3'

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