Incidental Mutation 'R6356:Ivl'
ID |
512999 |
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 # |
R6356 (G1)
|
Quality Score |
217.468 |
Status
|
Not 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
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,161,292 (GRCm39) |
S152T |
probably benign |
Het |
Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
Add1 |
A |
G |
5: 34,776,740 (GRCm39) |
N32S |
probably null |
Het |
Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
Glud1 |
A |
G |
14: 34,033,173 (GRCm39) |
R107G |
probably benign |
Het |
Gtf2h4 |
A |
G |
17: 35,980,647 (GRCm39) |
S279P |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
Ppfibp2 |
T |
C |
7: 107,280,976 (GRCm39) |
V96A |
probably benign |
Het |
Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
Samd4b |
A |
T |
7: 28,101,018 (GRCm39) |
I687N |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,902,926 (GRCm39) |
M501L |
probably benign |
Het |
Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
possibly 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 |
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 |
|
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'- TTGCAGTTCTGGTTCCTGAC -3'
(R):5'- CTGATTCCAGGAGAAAAGCAGC -3'
Sequencing Primer
(F):5'- TGGTTCCTGACACTCCTGG -3'
(R):5'- CACCAGGAGCCACAGGAG -3'
|
Posted On |
2018-04-27 |