Incidental Mutation 'R8363:Ivl'
ID |
646040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ivl
|
Ensembl Gene |
ENSMUSG00000049128 |
Gene Name |
involucrin |
Synonyms |
1110019C06Rik |
MMRRC Submission |
067654-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8363 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
92478209-92481042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92479525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 180
(H180L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053107]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053107
AA Change: H180L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000059780 Gene: ENSMUSG00000049128 AA Change: H180L
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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 |
2010315B03Rik |
T |
A |
9: 124,055,800 (GRCm39) |
I375L |
|
Het |
Adamts18 |
C |
T |
8: 114,493,795 (GRCm39) |
G448D |
probably damaging |
Het |
Bzw2 |
A |
G |
12: 36,180,122 (GRCm39) |
V35A |
probably benign |
Het |
C2cd4d |
C |
T |
3: 94,271,157 (GRCm39) |
T141M |
probably benign |
Het |
Chchd4 |
T |
A |
6: 91,444,737 (GRCm39) |
K17* |
probably null |
Het |
Cmas |
C |
T |
6: 142,702,554 (GRCm39) |
P19L |
probably benign |
Het |
Colec10 |
A |
G |
15: 54,274,238 (GRCm39) |
H22R |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,125,376 (GRCm39) |
D1546G |
probably damaging |
Het |
Dgki |
A |
T |
6: 36,993,613 (GRCm39) |
C583S |
probably damaging |
Het |
Dhrs13 |
G |
T |
11: 77,925,343 (GRCm39) |
V205L |
probably damaging |
Het |
Eif4a3l1 |
T |
G |
6: 136,306,453 (GRCm39) |
S305A |
probably benign |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Erc1 |
T |
C |
6: 119,730,260 (GRCm39) |
D612G |
probably benign |
Het |
Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
Gm5160 |
T |
C |
18: 14,557,929 (GRCm39) |
V2A |
possibly damaging |
Het |
Gm8247 |
A |
T |
14: 44,823,919 (GRCm39) |
I202F |
|
Het |
Gnpat |
T |
C |
8: 125,590,038 (GRCm39) |
V21A |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,891,625 (GRCm39) |
S2297T |
probably benign |
Het |
Igkv13-85 |
A |
G |
6: 68,907,269 (GRCm39) |
Y111H |
probably damaging |
Het |
Il17rd |
A |
G |
14: 26,813,906 (GRCm39) |
N206D |
probably damaging |
Het |
Il1r2 |
G |
A |
1: 40,160,095 (GRCm39) |
V272M |
probably damaging |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Kirrel2 |
A |
G |
7: 30,152,968 (GRCm39) |
V350A |
probably damaging |
Het |
Mcpt4 |
A |
G |
14: 56,299,692 (GRCm39) |
S14P |
probably damaging |
Het |
Mdm2 |
A |
G |
10: 117,526,239 (GRCm39) |
V449A |
probably damaging |
Het |
Mga |
T |
C |
2: 119,794,407 (GRCm39) |
V2697A |
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,135,930 (GRCm39) |
F52L |
probably benign |
Het |
Mtarc2 |
A |
G |
1: 184,566,055 (GRCm39) |
|
probably null |
Het |
Ndst3 |
T |
C |
3: 123,350,517 (GRCm39) |
S623G |
possibly damaging |
Het |
Oas1a |
C |
T |
5: 121,043,902 (GRCm39) |
A77T |
probably damaging |
Het |
Or4d1 |
A |
T |
11: 87,805,069 (GRCm39) |
I221N |
probably damaging |
Het |
Or9a2 |
T |
C |
6: 41,748,684 (GRCm39) |
Q183R |
probably benign |
Het |
P3h2 |
A |
G |
16: 25,811,468 (GRCm39) |
F252L |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,762,139 (GRCm39) |
D493G |
probably damaging |
Het |
Rab3ip |
A |
C |
10: 116,754,869 (GRCm39) |
I229S |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,268,119 (GRCm39) |
L74P |
probably damaging |
Het |
Scn1a |
G |
T |
2: 66,152,601 (GRCm39) |
N804K |
probably damaging |
Het |
Slc22a6 |
A |
T |
19: 8,596,386 (GRCm39) |
H124L |
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,727,277 (GRCm39) |
I492V |
probably benign |
Het |
Snx2 |
G |
T |
18: 53,330,936 (GRCm39) |
E134* |
probably null |
Het |
Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
Tcp11 |
A |
G |
17: 28,288,221 (GRCm39) |
S415P |
possibly damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,804,969 (GRCm39) |
S48T |
probably benign |
Het |
Vps16 |
T |
A |
2: 130,284,161 (GRCm39) |
F665L |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,513,989 (GRCm39) |
D22E |
probably damaging |
Het |
Zng1 |
A |
T |
19: 24,920,091 (GRCm39) |
H175Q |
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 |
|
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 |
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'- CCAGTTGCAGTTCTGGTTCATG -3'
(R):5'- CCTGTGCCTGGAACAACAAC -3'
Sequencing Primer
(F):5'- CAGTTCTGGTTCATGTAGCTTC -3'
(R):5'- GTGCCTGGAACAACAACAGCAG -3'
|
Posted On |
2020-09-02 |