Incidental Mutation 'R6355:Ivl'
ID |
512325 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ivl
|
Ensembl Gene |
ENSMUSG00000049128 |
Gene Name |
involucrin |
Synonyms |
1110019C06Rik |
MMRRC Submission |
044507-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6355 (G1)
|
Quality Score |
217.468 |
Status
|
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: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
98% (41/42) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,804,907 (GRCm39) |
D832G |
possibly damaging |
Het |
Btbd2 |
A |
G |
10: 80,481,183 (GRCm39) |
F325L |
possibly damaging |
Het |
Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
Gnat1 |
C |
A |
9: 107,554,623 (GRCm39) |
V81F |
probably benign |
Het |
Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
Magi1 |
A |
G |
6: 94,260,177 (GRCm39) |
Y43H |
probably benign |
Het |
Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
Pabpc2 |
A |
G |
18: 39,907,445 (GRCm39) |
S237G |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
Poc1b |
G |
A |
10: 98,965,436 (GRCm39) |
E80K |
probably damaging |
Het |
Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Tnip2 |
G |
A |
5: 34,656,541 (GRCm39) |
Q255* |
probably null |
Het |
Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
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 |
|
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'- GCAGTTCTGGTTCCTGACAC -3'
(R):5'- CTGATTCCAGGAGAAAAGCAGC -3'
Sequencing Primer
(F):5'- TGGTTCCTGACACTCCTGG -3'
(R):5'- CACCAGGAGCCACAGGAG -3'
|
Posted On |
2018-04-27 |