Incidental Mutation 'R4561:Ivl'
ID343080
Institutional Source Beutler Lab
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Nameinvolucrin
Synonyms1110019C06Rik
MMRRC Submission 041786-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4561 (G1)
Quality Score217
Status Not validated
Chromosome3
Chromosomal Location92570902-92573735 bp(-) (GRCm38)
Type of Mutationsmall insertion (1 aa in frame mutation)
DNA Base Change (assembly) CCTGCTGCTGCT to CCTGCTGCTGCTGCT at 92571955 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000059780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053107]
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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
Ank3 T C 10: 70,002,018 S1601P probably damaging Het
Arnt A G 3: 95,452,613 N56D probably damaging Het
Atad5 A G 11: 80,095,889 T601A probably benign Het
Calr4 A G 4: 109,246,182 N163S probably damaging Het
Cenpc1 C A 5: 86,047,632 A93S probably damaging Het
Cep135 C T 5: 76,638,193 H1048Y possibly damaging Het
Ctnna2 A G 6: 77,636,713 probably null Het
Ddx60 T C 8: 61,942,461 L144P probably damaging Het
Dera A T 6: 137,780,738 T96S possibly damaging Het
Dock9 T A 14: 121,559,007 M1853L probably benign Het
Erbb4 G A 1: 68,343,921 R306* probably null Het
Glyat G T 19: 12,651,280 L146F possibly damaging Het
Grk4 C A 5: 34,694,813 Q134K probably benign Het
Hkdc1 T C 10: 62,409,839 Q181R probably benign Het
Huwe1 A T X: 151,863,959 I682F probably damaging Het
Ipo4 C T 14: 55,630,089 probably benign Het
Kcnd2 A G 6: 21,216,396 Q33R probably benign Het
Kdm7a C T 6: 39,152,823 R473Q probably damaging Het
Klhl30 A T 1: 91,361,031 H504L probably damaging Het
Map4 A G 9: 110,052,371 Y101C possibly damaging Het
Mfn2 C A 4: 147,877,035 R707L probably damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Myof T C 19: 37,922,990 N1511D probably benign Het
Neb A T 2: 52,286,155 Y1431N probably damaging Het
Nlrc5 A G 8: 94,477,146 T625A probably damaging Het
Olfr996 G T 2: 85,579,620 C127F probably damaging Het
Pax2 A G 19: 44,835,963 Y374C unknown Het
Pde8a T A 7: 81,308,820 Y315* probably null Het
Pkhd1 A T 1: 20,534,719 L1124Q possibly damaging Het
Ppp1r3a A G 6: 14,754,682 F189L probably damaging Het
Prex2 G A 1: 11,184,545 probably null Het
Robo4 CGG CG 9: 37,411,490 probably null Het
Slc22a22 T A 15: 57,263,385 Q77L probably damaging Het
Slc24a2 A T 4: 87,227,397 V140D probably damaging Het
Slc35g2 C A 9: 100,553,234 R128L probably damaging Het
Slco1b2 A G 6: 141,671,167 T409A probably benign Het
Spag7 T C 11: 70,664,990 I80M probably damaging Het
Srgap3 A G 6: 112,781,054 M164T probably damaging Het
Sspo A T 6: 48,475,534 probably null Het
Tcte2 T C 17: 13,722,602 probably benign Het
Tmem117 A T 15: 95,094,796 M446L probably benign Het
Tmtc4 T C 14: 122,963,298 T194A probably benign Het
Ttc21b T C 2: 66,186,218 Y1269C probably damaging Het
Zfp236 A T 18: 82,620,406 I1363N probably damaging Het
Zfp760 T A 17: 21,723,667 S608T probably benign Het
Zfp947 G T 17: 22,146,143 Y183* probably null Het
Other mutations in Ivl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Ivl APN 3 92572512 missense possibly damaging 0.68
IGL01656:Ivl APN 3 92571655 nonsense probably null
IGL01820:Ivl APN 3 92571633 missense possibly damaging 0.95
IGL03012:Ivl APN 3 92572426 missense probably benign 0.01
PIT4142001:Ivl UTSW 3 92572301 small deletion probably benign
PIT4151001:Ivl UTSW 3 92572301 small deletion probably benign
PIT4458001:Ivl UTSW 3 92572301 small insertion probably benign
R0256:Ivl UTSW 3 92571843 missense probably damaging 1.00
R0276:Ivl UTSW 3 92571514 missense unknown
R1800:Ivl UTSW 3 92572584 missense unknown
R1940:Ivl UTSW 3 92572749 missense probably benign 0.00
R1950:Ivl UTSW 3 92572113 missense possibly damaging 0.85
R2887:Ivl UTSW 3 92571392 missense unknown
R4457:Ivl UTSW 3 92572366 missense probably benign 0.03
R4562:Ivl UTSW 3 92571955 small insertion probably benign
R4698:Ivl UTSW 3 92571391 missense unknown
R4708:Ivl UTSW 3 92571750 missense probably damaging 1.00
R4885:Ivl UTSW 3 92572411 missense probably benign 0.03
R6354:Ivl UTSW 3 92571910 small deletion probably benign
R6355:Ivl UTSW 3 92571910 small deletion probably benign
R6356:Ivl UTSW 3 92571910 small deletion probably benign
R6582:Ivl UTSW 3 92571910 small deletion probably benign
R6723:Ivl UTSW 3 92571387 missense unknown
R7091:Ivl UTSW 3 92572242 missense possibly damaging 0.85
R7146:Ivl UTSW 3 92572231 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGTACTGCTGCTTTCTCAGG -3'
(R):5'- AGAACTGCATCTGGGTCAGC -3'

Sequencing Primer
(F):5'- CTCAGGTACAGTTCTGGCTTATGAAG -3'
(R):5'- TCTGGGTCAGCAGCAGAAAACTC -3'
Posted On2015-09-24