Incidental Mutation 'R6582:Ivl'
| ID |
524136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ivl
|
| Ensembl Gene |
ENSMUSG00000049128 |
| Gene Name |
involucrin |
| Synonyms |
1110019C06Rik |
| MMRRC Submission |
044706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6582 (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: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
| Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
| Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
| Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
| Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
| Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
| Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
| Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
| Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
| Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
| Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
| Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
| Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
| Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
| Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
| Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
| Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
| Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
| Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
|
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 |
|
|
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 |
2018-06-22 |
Incidental Mutation