Incidental Mutation 'IGL01656:Ivl'
ID |
103001 |
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 # |
IGL01656
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
92478209-92481042 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 92478962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 368
(Q368*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053107]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000053107
AA Change: Q368*
|
SMART Domains |
Protein: ENSMUSP00000059780 Gene: ENSMUSG00000049128 AA Change: Q368*
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
A |
C |
6: 125,030,675 (GRCm39) |
E232A |
possibly damaging |
Het |
Anapc11 |
T |
A |
11: 120,490,173 (GRCm39) |
F30I |
possibly damaging |
Het |
Ap5z1 |
A |
G |
5: 142,456,069 (GRCm39) |
D318G |
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,740,339 (GRCm39) |
E1278G |
possibly damaging |
Het |
Cylc1 |
A |
G |
X: 110,167,485 (GRCm39) |
T589A |
probably benign |
Het |
Dcaf15 |
T |
C |
8: 84,824,617 (GRCm39) |
I527V |
probably benign |
Het |
Ddhd2 |
C |
T |
8: 26,217,739 (GRCm39) |
V713I |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,613,009 (GRCm39) |
V283A |
possibly damaging |
Het |
Elf5 |
A |
G |
2: 103,273,206 (GRCm39) |
|
probably benign |
Het |
Flnb |
C |
T |
14: 7,902,010 (GRCm38) |
|
probably benign |
Het |
Flnc |
C |
T |
6: 29,443,507 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,891,201 (GRCm39) |
L113P |
probably damaging |
Het |
Gemin4 |
C |
T |
11: 76,104,636 (GRCm39) |
V42M |
probably damaging |
Het |
Gm10076 |
A |
G |
14: 105,919,354 (GRCm39) |
|
noncoding transcript |
Het |
Grina |
A |
G |
15: 76,132,501 (GRCm39) |
Y116C |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,460,763 (GRCm39) |
L914H |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,439,934 (GRCm39) |
|
probably benign |
Het |
Kbtbd8 |
A |
G |
6: 95,095,657 (GRCm39) |
H73R |
probably benign |
Het |
Krt90 |
T |
A |
15: 101,463,878 (GRCm39) |
Q392L |
probably damaging |
Het |
Magea3 |
A |
T |
X: 153,732,137 (GRCm39) |
M122K |
probably damaging |
Het |
Mapk8ip3 |
T |
C |
17: 25,137,003 (GRCm39) |
D237G |
probably damaging |
Het |
Nln |
T |
C |
13: 104,198,249 (GRCm39) |
|
probably null |
Het |
Nlrp4d |
T |
C |
7: 10,098,074 (GRCm39) |
Y853C |
noncoding transcript |
Het |
Nol11 |
T |
C |
11: 107,079,998 (GRCm39) |
D29G |
probably benign |
Het |
Nr3c2 |
C |
T |
8: 77,914,166 (GRCm39) |
L791F |
probably damaging |
Het |
Nup50l |
A |
G |
6: 96,142,675 (GRCm39) |
V123A |
possibly damaging |
Het |
Olfm3 |
T |
C |
3: 114,916,282 (GRCm39) |
Y385H |
probably damaging |
Het |
Or14j5 |
C |
T |
17: 38,162,029 (GRCm39) |
P182L |
possibly damaging |
Het |
Or51a8 |
A |
G |
7: 102,550,472 (GRCm39) |
I299M |
possibly damaging |
Het |
Or5b119 |
G |
A |
19: 13,457,454 (GRCm39) |
A36V |
probably benign |
Het |
Pklr |
G |
T |
3: 89,052,302 (GRCm39) |
G505C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,472,469 (GRCm39) |
E1071G |
possibly damaging |
Het |
Prkcq |
G |
T |
2: 11,231,766 (GRCm39) |
A30S |
probably damaging |
Het |
Rilpl1 |
A |
G |
5: 124,641,712 (GRCm39) |
F104L |
probably damaging |
Het |
Rsph6a |
C |
T |
7: 18,788,770 (GRCm39) |
T34I |
probably benign |
Het |
Sec23ip |
C |
T |
7: 128,351,969 (GRCm39) |
P12L |
probably damaging |
Het |
Slc25a21 |
A |
C |
12: 56,785,280 (GRCm39) |
V199G |
probably damaging |
Het |
Smc1b |
T |
C |
15: 84,998,977 (GRCm39) |
E483G |
probably damaging |
Het |
Sucnr1 |
T |
C |
3: 59,993,832 (GRCm39) |
M120T |
possibly damaging |
Het |
Tas2r116 |
T |
C |
6: 132,832,396 (GRCm39) |
|
probably benign |
Het |
Tbrg4 |
T |
A |
11: 6,568,522 (GRCm39) |
Q419L |
possibly damaging |
Het |
Tc2n |
A |
G |
12: 101,615,348 (GRCm39) |
|
probably benign |
Het |
Tgfbr2 |
A |
C |
9: 115,938,737 (GRCm39) |
S388R |
probably damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,989,274 (GRCm39) |
E71G |
probably damaging |
Het |
Xpc |
A |
T |
6: 91,482,449 (GRCm39) |
I176K |
probably damaging |
Het |
Xylt1 |
G |
T |
7: 117,148,228 (GRCm39) |
R264L |
probably damaging |
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 |
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 |
2014-01-21 |