Incidental Mutation 'R8363:Ivl'
ID 646040
Institutional Source Beutler Lab
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Name involucrin
Synonyms 1110019C06Rik
MMRRC Submission 067654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8363 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 92478209-92481042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92479525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 180 (H180L)
Ref Sequence ENSEMBL: ENSMUSP00000059780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053107]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000053107
AA Change: H180L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: H180L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,800 (GRCm39) I375L Het
Adamts18 C T 8: 114,493,795 (GRCm39) G448D probably damaging Het
Bzw2 A G 12: 36,180,122 (GRCm39) V35A probably benign Het
C2cd4d C T 3: 94,271,157 (GRCm39) T141M probably benign Het
Chchd4 T A 6: 91,444,737 (GRCm39) K17* probably null Het
Cmas C T 6: 142,702,554 (GRCm39) P19L probably benign Het
Colec10 A G 15: 54,274,238 (GRCm39) H22R probably benign Het
D630045J12Rik T C 6: 38,125,376 (GRCm39) D1546G probably damaging Het
Dgki A T 6: 36,993,613 (GRCm39) C583S probably damaging Het
Dhrs13 G T 11: 77,925,343 (GRCm39) V205L probably damaging Het
Eif4a3l1 T G 6: 136,306,453 (GRCm39) S305A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Erc1 T C 6: 119,730,260 (GRCm39) D612G probably benign Het
Fam163b G A 2: 27,002,650 (GRCm39) R116C probably benign Het
Gm5160 T C 18: 14,557,929 (GRCm39) V2A possibly damaging Het
Gm8247 A T 14: 44,823,919 (GRCm39) I202F Het
Gnpat T C 8: 125,590,038 (GRCm39) V21A probably benign Het
Igfn1 A T 1: 135,891,625 (GRCm39) S2297T probably benign Het
Igkv13-85 A G 6: 68,907,269 (GRCm39) Y111H probably damaging Het
Il17rd A G 14: 26,813,906 (GRCm39) N206D probably damaging Het
Il1r2 G A 1: 40,160,095 (GRCm39) V272M probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kirrel2 A G 7: 30,152,968 (GRCm39) V350A probably damaging Het
Mcpt4 A G 14: 56,299,692 (GRCm39) S14P probably damaging Het
Mdm2 A G 10: 117,526,239 (GRCm39) V449A probably damaging Het
Mga T C 2: 119,794,407 (GRCm39) V2697A probably benign Het
Mlxipl T C 5: 135,135,930 (GRCm39) F52L probably benign Het
Mtarc2 A G 1: 184,566,055 (GRCm39) probably null Het
Ndst3 T C 3: 123,350,517 (GRCm39) S623G possibly damaging Het
Oas1a C T 5: 121,043,902 (GRCm39) A77T probably damaging Het
Or4d1 A T 11: 87,805,069 (GRCm39) I221N probably damaging Het
Or9a2 T C 6: 41,748,684 (GRCm39) Q183R probably benign Het
P3h2 A G 16: 25,811,468 (GRCm39) F252L probably damaging Het
Psme4 A G 11: 30,762,139 (GRCm39) D493G probably damaging Het
Rab3ip A C 10: 116,754,869 (GRCm39) I229S probably damaging Het
Ralgapb T C 2: 158,268,119 (GRCm39) L74P probably damaging Het
Scn1a G T 2: 66,152,601 (GRCm39) N804K probably damaging Het
Slc22a6 A T 19: 8,596,386 (GRCm39) H124L probably benign Het
Slc6a6 A G 6: 91,727,277 (GRCm39) I492V probably benign Het
Snx2 G T 18: 53,330,936 (GRCm39) E134* probably null Het
Stt3b A G 9: 115,083,988 (GRCm39) I396T probably damaging Het
Tcp11 A G 17: 28,288,221 (GRCm39) S415P possibly damaging Het
Vmn2r67 A T 7: 84,804,969 (GRCm39) S48T probably benign Het
Vps16 T A 2: 130,284,161 (GRCm39) F665L probably benign Het
Wdhd1 A T 14: 47,513,989 (GRCm39) D22E probably damaging Het
Zng1 A T 19: 24,920,091 (GRCm39) H175Q 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
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'- CCAGTTGCAGTTCTGGTTCATG -3'
(R):5'- CCTGTGCCTGGAACAACAAC -3'

Sequencing Primer
(F):5'- CAGTTCTGGTTCATGTAGCTTC -3'
(R):5'- GTGCCTGGAACAACAACAGCAG -3'
Posted On 2020-09-02