Incidental Mutation 'R3908:Il22'
| ID |
310295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il22
|
| Ensembl Gene |
ENSMUSG00000074695 |
| Gene Name |
interleukin 22 |
| Synonyms |
IL-22, Iltif, IL-TIF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R3908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
118040847-118045952 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 118041529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 81
(R81*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096691]
|
| AlphaFold |
Q9JJY9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096691
AA Change: R81*
|
| SMART Domains |
Protein: ENSMUSP00000094449
Gene: ENSMUSG00000074695
AA Change: R81*
| Domain | Start | End | E-Value | Type |
|---|
|
IL10
|
49 |
179 |
7.88e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutation of this locus results in abnormalities in Il23-induced dermal inflammation and acanthosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,532 (GRCm39) |
D74G |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,083,257 (GRCm39) |
V748A |
possibly damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,268,673 (GRCm39) |
L583Q |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,379,169 (GRCm39) |
I287V |
probably damaging |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Matr3 |
C |
T |
18: 35,705,894 (GRCm39) |
P273L |
probably damaging |
Het |
| Mpp4 |
T |
A |
1: 59,188,196 (GRCm39) |
H183L |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,661,885 (GRCm39) |
|
probably null |
Het |
| Or52h7 |
T |
C |
7: 104,213,848 (GRCm39) |
I140T |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,770,470 (GRCm39) |
S617P |
probably damaging |
Het |
| Psmb1 |
T |
C |
17: 15,710,543 (GRCm39) |
Y2C |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,511,919 (GRCm39) |
T141A |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,910,875 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
| Zbtb12 |
A |
T |
17: 35,115,244 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Il22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03204:Il22
|
APN |
10 |
118,041,085 (GRCm39) |
splice site |
probably benign |
|
|
IGL03290:Il22
|
APN |
10 |
118,041,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4651001:Il22
|
UTSW |
10 |
118,041,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Il22
|
UTSW |
10 |
118,041,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Il22
|
UTSW |
10 |
118,041,529 (GRCm39) |
nonsense |
probably null |
|
|
R4703:Il22
|
UTSW |
10 |
118,041,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Il22
|
UTSW |
10 |
118,041,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4799:Il22
|
UTSW |
10 |
118,041,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5439:Il22
|
UTSW |
10 |
118,045,366 (GRCm39) |
nonsense |
probably null |
|
|
R5496:Il22
|
UTSW |
10 |
118,041,002 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5957:Il22
|
UTSW |
10 |
118,041,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6584:Il22
|
UTSW |
10 |
118,040,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6862:Il22
|
UTSW |
10 |
118,041,715 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7381:Il22
|
UTSW |
10 |
118,041,069 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8095:Il22
|
UTSW |
10 |
118,041,028 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGGCGCATTTAGAAAGCC -3'
(R):5'- CAGAACGTCTTCCAGGGTGAAG -3'
Sequencing Primer
(F):5'- TTTAGAAAGCCACCCACGACTG -3'
(R):5'- CTTCCAGGGTGAAGTTGAGCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation