Incidental Mutation 'R6354:Ivl'
ID 512945
Institutional Source Beutler Lab
Gene Symbol Ivl
Ensembl Gene ENSMUSG00000049128
Gene Name involucrin
Synonyms 1110019C06Rik
MMRRC Submission 044506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6354 (G1)
Quality Score 182.468
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: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,685,042 (GRCm39) K152E probably benign Het
Adamts20 C A 15: 94,245,691 (GRCm39) C537F probably damaging Het
Apc A T 18: 34,445,581 (GRCm39) T808S probably benign Het
Atad3a A G 4: 155,838,402 (GRCm39) I205T possibly damaging Het
Casz1 G T 4: 149,036,999 (GRCm39) G1754C unknown Het
Ccdc62 C T 5: 124,082,267 (GRCm39) A232V probably damaging Het
Cdc27 C A 11: 104,425,574 (GRCm39) D81Y probably damaging Het
Cep126 A G 9: 8,099,928 (GRCm39) S869P probably damaging Het
Cfap251 C T 5: 123,440,818 (GRCm39) T1125I probably damaging Het
Ciita A T 16: 10,341,610 (GRCm39) K983N probably damaging Het
Cimap1a A G 7: 140,430,527 (GRCm39) probably null Het
Clstn1 A C 4: 149,727,673 (GRCm39) Q523P probably benign Het
Cpb2 T C 14: 75,495,145 (GRCm39) probably null Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Csmd3 C T 15: 47,744,885 (GRCm39) G1370D probably damaging Het
Cwf19l1 G T 19: 44,115,912 (GRCm39) D172E probably benign Het
Cyp4a14 A G 4: 115,344,441 (GRCm39) F475L probably damaging Het
Fam98c C T 7: 28,852,272 (GRCm39) V298M probably damaging Het
Gcsh T C 8: 117,710,582 (GRCm39) N127S probably benign Het
Gimap4 T C 6: 48,663,814 (GRCm39) F10S possibly damaging Het
Gm4787 C T 12: 81,424,755 (GRCm39) A468T probably damaging Het
Gm5111 G A 6: 48,567,268 (GRCm39) probably benign Het
Gm7137 C A 10: 77,623,481 (GRCm39) probably benign Het
Inpp1 A G 1: 52,836,224 (GRCm39) S81P probably damaging Het
Iqce T C 5: 140,662,090 (GRCm39) probably null Het
Krtap13 C A 16: 88,548,131 (GRCm39) C119F probably damaging Het
Lama2 G T 10: 27,088,064 (GRCm39) D904E probably damaging Het
Lrrc37a T A 11: 103,355,213 (GRCm39) I2535F unknown Het
Lrrc40 T A 3: 157,766,901 (GRCm39) L452* probably null Het
Meis1 A T 11: 18,966,184 (GRCm39) M63K possibly damaging Het
Mpo T A 11: 87,688,172 (GRCm39) I277N possibly damaging Het
Mtmr11 T A 3: 96,075,992 (GRCm39) F406I probably benign Het
Muc4 T C 16: 32,575,476 (GRCm39) S1411P probably benign Het
Or2y1b A T 11: 49,208,465 (GRCm39) I31F probably damaging Het
Or4c102 T A 2: 88,422,478 (GRCm39) I110N probably damaging Het
Or56a5 G A 7: 104,792,915 (GRCm39) T195I probably benign Het
Phf21a G A 2: 92,179,282 (GRCm39) G298R probably damaging Het
Phldb2 T C 16: 45,645,477 (GRCm39) Y368C probably damaging Het
Pik3cb G T 9: 98,955,696 (GRCm39) T407K probably benign Het
Robo3 A T 9: 37,328,513 (GRCm39) probably benign Het
Sgsm1 T G 5: 113,430,522 (GRCm39) T288P probably damaging Het
Slc5a7 A G 17: 54,584,061 (GRCm39) S410P probably damaging Het
Tmc6 A C 11: 117,665,062 (GRCm39) C404G probably benign Het
Tnrc6c A T 11: 117,640,440 (GRCm39) Q1410L possibly damaging Het
Trak1 A T 9: 121,280,792 (GRCm39) T384S probably null Het
Txlna A T 4: 129,528,205 (GRCm39) L244Q probably damaging Het
Ube3c T C 5: 29,868,581 (GRCm39) F939L probably damaging Het
Vmn2r65 T A 7: 84,589,574 (GRCm39) I781F probably benign Het
Vmn2r72 A G 7: 85,399,747 (GRCm39) probably null Het
Vps36 T C 8: 22,695,771 (GRCm39) S109P probably damaging Het
Wrn T C 8: 33,833,666 (GRCm39) I82M possibly damaging Het
Zbtb49 T C 5: 38,360,903 (GRCm39) R511G possibly damaging Het
Zeb1 A G 18: 5,772,743 (GRCm39) T1011A possibly damaging Het
Zfhx4 T C 3: 5,467,011 (GRCm39) S2390P probably benign Het
Zfp619 C A 7: 39,184,243 (GRCm39) T91K probably benign Het
Zfp644 A G 5: 106,784,619 (GRCm39) S643P 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
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'- GCAGTTCTGGTTCCTGACAC -3'
(R):5'- CTGATTCCAGGAGAAAAGCAGC -3'

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