Incidental Mutation 'IGL00809:Ivl'
ID |
11520 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ivl
|
Ensembl Gene |
ENSMUSG00000049128 |
Gene Name |
involucrin |
Synonyms |
1110019C06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00809
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
92478209-92481042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92479819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 82
(Q82L)
|
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: Q82L
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000059780 Gene: ENSMUSG00000049128 AA Change: Q82L
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 |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,983 (GRCm39) |
T113A |
possibly damaging |
Het |
Akap10 |
T |
A |
11: 61,805,897 (GRCm39) |
N277I |
possibly damaging |
Het |
Ankrd24 |
A |
T |
10: 81,478,901 (GRCm39) |
|
probably benign |
Het |
Bfsp2 |
T |
C |
9: 103,330,297 (GRCm39) |
E180G |
possibly damaging |
Het |
Cd55 |
A |
T |
1: 130,380,248 (GRCm39) |
Y243* |
probably null |
Het |
Col17a1 |
G |
T |
19: 47,669,842 (GRCm39) |
H103Q |
probably damaging |
Het |
Diaph3 |
A |
T |
14: 87,237,463 (GRCm39) |
H311Q |
probably damaging |
Het |
Dnah1 |
G |
A |
14: 31,022,766 (GRCm39) |
Q1124* |
probably null |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Fzr1 |
G |
T |
10: 81,206,359 (GRCm39) |
S137* |
probably null |
Het |
Gnl3 |
A |
G |
14: 30,736,146 (GRCm39) |
I298T |
possibly damaging |
Het |
Hnrnpa2b1 |
C |
T |
6: 51,443,993 (GRCm39) |
G65S |
probably damaging |
Het |
Hsd17b7 |
A |
T |
1: 169,793,324 (GRCm39) |
Y88* |
probably null |
Het |
Itga2 |
C |
A |
13: 115,014,161 (GRCm39) |
A256S |
probably damaging |
Het |
Itga7 |
T |
C |
10: 128,775,038 (GRCm39) |
|
probably null |
Het |
Lin28a |
C |
T |
4: 133,735,367 (GRCm39) |
G90S |
probably damaging |
Het |
Lkaaear1 |
A |
T |
2: 181,339,127 (GRCm39) |
S108T |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
Osbpl9 |
C |
T |
4: 108,990,960 (GRCm39) |
R100H |
probably damaging |
Het |
Pals2 |
C |
T |
6: 50,173,569 (GRCm39) |
R478C |
probably benign |
Het |
Pclo |
T |
A |
5: 14,725,811 (GRCm39) |
D1556E |
unknown |
Het |
Phip |
G |
A |
9: 82,753,356 (GRCm39) |
S1796F |
probably damaging |
Het |
Phtf1 |
T |
C |
3: 103,895,983 (GRCm39) |
S226P |
probably benign |
Het |
Rapgef6 |
C |
A |
11: 54,540,126 (GRCm39) |
Q734K |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,314,279 (GRCm39) |
I1802N |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,684,038 (GRCm39) |
|
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,970,301 (GRCm39) |
I373V |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,590,750 (GRCm39) |
D303V |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,095,968 (GRCm39) |
I1163T |
probably damaging |
Het |
|
Other mutations in Ivl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
RF055:Ivl
|
UTSW |
3 |
92,479,607 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2012-12-06 |