Incidental Mutation 'R0256:Ivl'
ID 34731
Institutional Source Beutler Lab
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Name involucrin
Synonyms 1110019C06Rik
MMRRC Submission 038487-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0256 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 92478209-92481042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92479150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 305 (D305G)
Ref Sequence ENSEMBL: ENSMUSP00000059780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053107]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053107
AA Change: D305G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: D305G

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 0.6467 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.6%
  • 10x: 95.8%
  • 20x: 92.8%
Validation Efficiency 98% (48/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik G T 10: 29,098,252 (GRCm39) L186F probably damaging Het
Abce1 A C 8: 80,412,572 (GRCm39) probably null Het
Acvrl1 A T 15: 101,035,002 (GRCm39) N254Y probably damaging Het
Apip T A 2: 102,918,916 (GRCm39) M72K possibly damaging Het
Arg1 A G 10: 24,792,356 (GRCm39) Y188H probably benign Het
Armc3 A T 2: 19,274,027 (GRCm39) N354Y probably damaging Het
Arrdc5 A G 17: 56,601,382 (GRCm39) F248L probably damaging Het
Atp8b5 T C 4: 43,302,576 (GRCm39) probably benign Het
Bltp1 G T 3: 36,971,922 (GRCm39) V552L probably benign Het
Ccdc154 C T 17: 25,389,606 (GRCm39) A490V probably benign Het
Cdh6 T C 15: 13,053,868 (GRCm39) probably benign Het
Chmp2b G T 16: 65,337,078 (GRCm39) T193K probably benign Het
Clca3a1 A T 3: 144,436,640 (GRCm39) N814K probably damaging Het
Cmtr1 T C 17: 29,916,098 (GRCm39) L576P probably damaging Het
Fhl5 T C 4: 25,213,624 (GRCm39) H104R probably benign Het
Foxk1 A G 5: 142,439,436 (GRCm39) probably benign Het
Gm11596 T A 11: 99,683,542 (GRCm39) T193S unknown Het
Gm15217 A T 14: 46,617,853 (GRCm39) probably benign Het
Hic2 A G 16: 17,075,377 (GRCm39) I69V probably benign Het
Kcnn2 A G 18: 45,725,472 (GRCm39) T323A probably damaging Het
Krt7 C T 15: 101,321,190 (GRCm39) Q336* probably null Het
Krt73 T G 15: 101,710,371 (GRCm39) D121A probably damaging Het
Mok T C 12: 110,774,539 (GRCm39) D216G probably damaging Het
Muc17 A G 5: 137,175,539 (GRCm39) C44R probably damaging Het
Muc5b A G 7: 141,395,132 (GRCm39) Y46C unknown Het
Muc5b T C 7: 141,396,995 (GRCm39) F223L unknown Het
Noct A G 3: 51,157,895 (GRCm39) D411G probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5j1 T C 2: 86,879,400 (GRCm39) Y60C probably damaging Het
Or6c76b A T 10: 129,692,906 (GRCm39) D173V probably damaging Het
Pigv T C 4: 133,393,062 (GRCm39) H36R probably damaging Het
Plscr3 A G 11: 69,740,880 (GRCm39) K239E probably damaging Het
Prkag3 T C 1: 74,780,330 (GRCm39) D445G probably benign Het
Ramp1 A T 1: 91,124,641 (GRCm39) probably benign Het
Ror1 T A 4: 100,266,942 (GRCm39) H214Q probably benign Het
Selenbp2 A T 3: 94,607,008 (GRCm39) H156L probably benign Het
Slc28a3 T C 13: 58,721,314 (GRCm39) T284A probably benign Het
Slc35a1 T C 4: 34,668,962 (GRCm39) T284A probably benign Het
Smco2 A T 6: 146,763,244 (GRCm39) I184F probably damaging Het
Son A G 16: 91,453,472 (GRCm39) M740V possibly damaging Het
Stil T A 4: 114,880,882 (GRCm39) N475K possibly damaging Het
Sval3 A G 6: 41,949,839 (GRCm39) D122G probably damaging Het
Tnks A G 8: 35,328,701 (GRCm39) M623T probably benign Het
Zfp142 A G 1: 74,617,317 (GRCm39) V235A probably benign Het
Zfp423 A T 8: 88,500,262 (GRCm39) C1053* probably null Het
Zfp648 T A 1: 154,081,414 (GRCm39) D524E 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
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
RF055:Ivl UTSW 3 92,479,607 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CTGCTTCTCTGTAGTGAGCACGTC -3'
(R):5'- CTGCAACTGGGAAAACAGCAGC -3'

Sequencing Primer
(F):5'- AGGTGTAATTCTGGCTCACCAAG -3'
(R):5'- gaaaacagcagcaccagaag -3'
Posted On 2013-05-09