Incidental Mutation 'R0256:Ivl'
ID |
34731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ivl
|
Ensembl Gene |
ENSMUSG00000049128 |
Gene Name |
involucrin |
Synonyms |
1110019C06Rik |
MMRRC Submission |
038487-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0256 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
92478209-92481042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92479150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 305
(D305G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053107]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053107
AA Change: D305G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059780 Gene: ENSMUSG00000049128 AA Change: D305G
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 |
0.6467 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.6%
- 10x: 95.8%
- 20x: 92.8%
|
Validation Efficiency |
98% (48/49) |
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 |
9330159F19Rik |
G |
T |
10: 29,098,252 (GRCm39) |
L186F |
probably damaging |
Het |
Abce1 |
A |
C |
8: 80,412,572 (GRCm39) |
|
probably null |
Het |
Acvrl1 |
A |
T |
15: 101,035,002 (GRCm39) |
N254Y |
probably damaging |
Het |
Apip |
T |
A |
2: 102,918,916 (GRCm39) |
M72K |
possibly damaging |
Het |
Arg1 |
A |
G |
10: 24,792,356 (GRCm39) |
Y188H |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,274,027 (GRCm39) |
N354Y |
probably damaging |
Het |
Arrdc5 |
A |
G |
17: 56,601,382 (GRCm39) |
F248L |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,302,576 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
G |
T |
3: 36,971,922 (GRCm39) |
V552L |
probably benign |
Het |
Ccdc154 |
C |
T |
17: 25,389,606 (GRCm39) |
A490V |
probably benign |
Het |
Cdh6 |
T |
C |
15: 13,053,868 (GRCm39) |
|
probably benign |
Het |
Chmp2b |
G |
T |
16: 65,337,078 (GRCm39) |
T193K |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,436,640 (GRCm39) |
N814K |
probably damaging |
Het |
Cmtr1 |
T |
C |
17: 29,916,098 (GRCm39) |
L576P |
probably damaging |
Het |
Fhl5 |
T |
C |
4: 25,213,624 (GRCm39) |
H104R |
probably benign |
Het |
Foxk1 |
A |
G |
5: 142,439,436 (GRCm39) |
|
probably benign |
Het |
Gm11596 |
T |
A |
11: 99,683,542 (GRCm39) |
T193S |
unknown |
Het |
Gm15217 |
A |
T |
14: 46,617,853 (GRCm39) |
|
probably benign |
Het |
Hic2 |
A |
G |
16: 17,075,377 (GRCm39) |
I69V |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,725,472 (GRCm39) |
T323A |
probably damaging |
Het |
Krt7 |
C |
T |
15: 101,321,190 (GRCm39) |
Q336* |
probably null |
Het |
Krt73 |
T |
G |
15: 101,710,371 (GRCm39) |
D121A |
probably damaging |
Het |
Mok |
T |
C |
12: 110,774,539 (GRCm39) |
D216G |
probably damaging |
Het |
Muc17 |
A |
G |
5: 137,175,539 (GRCm39) |
C44R |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,395,132 (GRCm39) |
Y46C |
unknown |
Het |
Muc5b |
T |
C |
7: 141,396,995 (GRCm39) |
F223L |
unknown |
Het |
Noct |
A |
G |
3: 51,157,895 (GRCm39) |
D411G |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5j1 |
T |
C |
2: 86,879,400 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6c76b |
A |
T |
10: 129,692,906 (GRCm39) |
D173V |
probably damaging |
Het |
Pigv |
T |
C |
4: 133,393,062 (GRCm39) |
H36R |
probably damaging |
Het |
Plscr3 |
A |
G |
11: 69,740,880 (GRCm39) |
K239E |
probably damaging |
Het |
Prkag3 |
T |
C |
1: 74,780,330 (GRCm39) |
D445G |
probably benign |
Het |
Ramp1 |
A |
T |
1: 91,124,641 (GRCm39) |
|
probably benign |
Het |
Ror1 |
T |
A |
4: 100,266,942 (GRCm39) |
H214Q |
probably benign |
Het |
Selenbp2 |
A |
T |
3: 94,607,008 (GRCm39) |
H156L |
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,721,314 (GRCm39) |
T284A |
probably benign |
Het |
Slc35a1 |
T |
C |
4: 34,668,962 (GRCm39) |
T284A |
probably benign |
Het |
Smco2 |
A |
T |
6: 146,763,244 (GRCm39) |
I184F |
probably damaging |
Het |
Son |
A |
G |
16: 91,453,472 (GRCm39) |
M740V |
possibly damaging |
Het |
Stil |
T |
A |
4: 114,880,882 (GRCm39) |
N475K |
possibly damaging |
Het |
Sval3 |
A |
G |
6: 41,949,839 (GRCm39) |
D122G |
probably damaging |
Het |
Tnks |
A |
G |
8: 35,328,701 (GRCm39) |
M623T |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,617,317 (GRCm39) |
V235A |
probably benign |
Het |
Zfp423 |
A |
T |
8: 88,500,262 (GRCm39) |
C1053* |
probably null |
Het |
Zfp648 |
T |
A |
1: 154,081,414 (GRCm39) |
D524E |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTTCTCTGTAGTGAGCACGTC -3'
(R):5'- CTGCAACTGGGAAAACAGCAGC -3'
Sequencing Primer
(F):5'- AGGTGTAATTCTGGCTCACCAAG -3'
(R):5'- gaaaacagcagcaccagaag -3'
|
Posted On |
2013-05-09 |