Incidental Mutation 'RF055:Ivl'
ID |
605227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ivl
|
Ensembl Gene |
ENSMUSG00000049128 |
Gene Name |
involucrin |
Synonyms |
1110019C06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF055 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
92478209-92481042 bp(-) (GRCm39) |
Type of Mutation |
small deletion (5 aa in frame mutation) |
DNA Base Change (assembly) |
CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG to CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG
at 92479607 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
Domain | Start | End | E-Value | Type |
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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B430218F22Rik |
GGCGGCGGCGGCG |
GGCGGCGGCGGCGGCGGCG |
13: 118,523,385 (GRCm39) |
|
probably benign |
Het |
Bhlhb9 |
C |
T |
X: 134,791,239 (GRCm39) |
L484F |
possibly damaging |
Het |
Bltp1 |
TTAT |
TTATTATTATTATTAGTAT |
3: 37,104,906 (GRCm39) |
|
probably benign |
Het |
Cul1 |
A |
T |
6: 47,494,067 (GRCm39) |
D460V |
probably damaging |
Het |
Cyb5r4 |
CTGCCCAGGGATGTGACAGACACA |
CTGCCCAGGGATGTGACAGACACAATGCCCAGGGATGTGACAGACACA |
9: 86,922,467 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CT |
CTTCCCAGGGATGTGACAGACACATT |
9: 86,922,491 (GRCm39) |
|
probably benign |
Het |
Dmkn |
GTGGTGGAAGTGGTGG |
GTGGTGGAAGTGGTGGAAGTTGTGGAATTGGTGGAAGTGGTGG |
7: 30,466,616 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
CTACCTCGTT |
CTACCTCGTTTTGGGGGCGGAGCACAGTTCGTACCTCGTT |
9: 20,821,432 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
CCTACCTCGTT |
CCTACCTCGTTTTGGAGGCGGAGCACAGTTGCTACCTCGTT |
9: 20,821,431 (GRCm39) |
|
probably null |
Het |
Fam171b |
AGCAGC |
AGCAGCCGCAGC |
2: 83,643,220 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,593 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TTC |
TTCGTC |
X: 74,043,616 (GRCm39) |
|
probably benign |
Het |
Gabre |
CAGGCTCA |
C |
X: 71,313,783 (GRCm39) |
|
probably null |
Het |
Garin5a |
GAGGA |
GAGGAAGGCTGGATCCTGGATACCTGGGGCTGAGGTAGGA |
7: 44,149,957 (GRCm39) |
|
probably null |
Het |
Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
GTGT |
GTGTTTGT |
19: 11,489,112 (GRCm39) |
|
probably null |
Het |
Gucy2d |
CTGGG |
CTGGGGGTCGTGGG |
7: 98,108,248 (GRCm39) |
|
probably benign |
Het |
Irag2 |
CACATTG |
CACATTGAGTACATTG |
6: 145,119,511 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
TG |
TGCTCTCG,TGCGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
GCCACA |
GCCACATCCACA |
1: 83,019,851 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGCCACAGCC |
CACAGCCACAGCCGCAACAGCCACAGCC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
CAG |
CAGGAG |
X: 70,162,443 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,404 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTCAGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,004 (GRCm39) |
|
probably benign |
Het |
Nelfe |
AAGACAGAGACCGGGATCGAGACAGAGAC |
AAGACAGAGACCGGGATCGAGACAGAGACAGAGACCGGGATCGAGACAGAGAC |
17: 35,073,038 (GRCm39) |
|
probably benign |
Het |
Osmr |
CTTCT |
CTTCTTCT |
15: 6,867,181 (GRCm39) |
|
probably benign |
Het |
Pou3f1 |
GGCGGCAGCGGC |
GGCGGCAGCGGCAGCGGC |
4: 124,551,589 (GRCm39) |
|
probably benign |
Het |
Setd1a |
GGTGGTGGT |
GGTGGTGGTTGTGGTGGT |
7: 127,384,471 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
G |
A |
8: 64,396,203 (GRCm39) |
R18C |
probably damaging |
Het |
Spata31h1 |
AATG |
AATGTCAATG |
10: 82,126,827 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
CGA |
CGAACCTCCCCAGTCCCGCAAGGCCAGTGA |
5: 77,164,250 (GRCm39) |
|
probably benign |
Het |
Stard8 |
GGA |
GGAAGA |
X: 98,110,126 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
GCTGGCTAGGCTCTTCCTGTTGGTTGGGTTGATCCTTCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG |
GCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG |
7: 12,508,352 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ivl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATCAGTTTCTGCTCCTCTGG -3'
(R):5'- ATCAAAAGTGTGAGCACCAGC -3'
Sequencing Primer
(F):5'- GAGTTTTCTGCTGCTGACCCAG -3'
(R):5'- TGTGAGCACCAGCAGCAG -3'
|
Posted On |
2019-12-04 |