Incidental Mutation 'R9465:Il24'
| ID |
715101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il24
|
| Ensembl Gene |
ENSMUSG00000026420 |
| Gene Name |
interleukin 24 |
| Synonyms |
FISP, Mda-7 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
130809801-130815153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130813462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 45
(Q45R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038829]
[ENSMUST00000121040]
[ENSMUST00000187650]
[ENSMUST00000188148]
[ENSMUST00000191279]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038829
|
| SMART Domains |
Protein: ENSMUSP00000048303
Gene: ENSMUSG00000042474
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:V-set
|
21 |
122 |
1.3e-10 |
PFAM |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
transmembrane domain
|
264 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121040
AA Change: Q45R
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113064
Gene: ENSMUSG00000026420
AA Change: Q45R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
|
IL10
|
76 |
219 |
1.14e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187650
AA Change: Q6R
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140149
Gene: ENSMUSG00000026420
AA Change: Q6R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IL10
|
37 |
180 |
5.4e-4 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000188148
|
| SMART Domains |
Protein: ENSMUSP00000139907
Gene: ENSMUSG00000026420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191279
AA Change: Q45R
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140821
Gene: ENSMUSG00000026420
AA Change: Q45R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
|
Blast:IL10
|
76 |
118 |
2e-21 |
BLAST |
|
SCOP:d2ilk__
|
80 |
119 |
2e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display normal induction of epidermal hyperplasia in response to intradermal IL-23 treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
C |
4: 123,754,317 (GRCm39) |
H77P |
possibly damaging |
Het |
| Adcy7 |
G |
T |
8: 89,046,778 (GRCm39) |
R587L |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atg4a-ps |
C |
T |
3: 103,553,101 (GRCm39) |
R80H |
probably damaging |
Het |
| Btd |
G |
A |
14: 31,389,643 (GRCm39) |
D455N |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,489,002 (GRCm38) |
S852P |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyp2j5 |
T |
C |
4: 96,522,551 (GRCm39) |
D341G |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,908,260 (GRCm39) |
V1011A |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,828,226 (GRCm39) |
E545K |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
A |
G |
1: 87,334,775 (GRCm39) |
D262G |
unknown |
Het |
| Gstm3 |
T |
C |
3: 107,873,431 (GRCm39) |
N180S |
possibly damaging |
Het |
| Helz2 |
G |
T |
2: 180,874,710 (GRCm39) |
T1928K |
probably benign |
Het |
| Hipk4 |
T |
A |
7: 27,229,160 (GRCm39) |
S537T |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 191,924,233 (GRCm39) |
G149E |
probably damaging |
Het |
| Krtap4-2 |
A |
G |
11: 99,525,391 (GRCm39) |
S154P |
unknown |
Het |
| Marveld3 |
T |
A |
8: 110,688,525 (GRCm39) |
H72L |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,049,144 (GRCm39) |
T551A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,624,839 (GRCm39) |
I2150N |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,782,726 (GRCm39) |
S170P |
possibly damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,898 (GRCm39) |
V158A |
probably benign |
Het |
| Or6aa1 |
T |
C |
7: 86,043,864 (GRCm39) |
I281V |
probably benign |
Het |
| Otog |
T |
C |
7: 45,955,299 (GRCm39) |
V563A |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Phkb |
G |
A |
8: 86,623,059 (GRCm39) |
V128I |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,442,222 (GRCm38) |
L50P |
|
Het |
| Prl2c5 |
C |
T |
13: 13,360,531 (GRCm39) |
S66L |
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,615 (GRCm39) |
S239P |
possibly damaging |
Het |
| Repin1 |
A |
G |
6: 48,571,877 (GRCm39) |
K41E |
probably benign |
Het |
| Scrn1 |
A |
T |
6: 54,502,649 (GRCm39) |
I130N |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,068,527 (GRCm39) |
L225Q |
probably damaging |
Het |
| Spred1 |
G |
A |
2: 116,983,648 (GRCm39) |
|
probably null |
Het |
| Taar7e |
A |
G |
10: 23,914,310 (GRCm39) |
R267G |
possibly damaging |
Het |
| Tgm5 |
T |
A |
2: 120,905,633 (GRCm39) |
Y174F |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,685,876 (GRCm39) |
I164V |
probably damaging |
Het |
| Tomm22 |
T |
C |
15: 79,555,468 (GRCm39) |
L71P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,577,531 (GRCm39) |
G24454V |
probably damaging |
Het |
| Wdr64 |
A |
G |
1: 175,618,823 (GRCm39) |
S739G |
possibly damaging |
Het |
| Zswim2 |
C |
T |
2: 83,746,275 (GRCm39) |
V388I |
probably benign |
Het |
|
| Other mutations in Il24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01934:Il24
|
APN |
1 |
130,811,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02540:Il24
|
APN |
1 |
130,815,040 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02959:Il24
|
APN |
1 |
130,813,470 (GRCm39) |
nonsense |
probably null |
|
|
IGL03191:Il24
|
APN |
1 |
130,812,584 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0360:Il24
|
UTSW |
1 |
130,811,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Il24
|
UTSW |
1 |
130,815,099 (GRCm39) |
splice site |
probably null |
|
|
R1755:Il24
|
UTSW |
1 |
130,811,680 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1984:Il24
|
UTSW |
1 |
130,810,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1985:Il24
|
UTSW |
1 |
130,810,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1986:Il24
|
UTSW |
1 |
130,810,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2090:Il24
|
UTSW |
1 |
130,812,574 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4970:Il24
|
UTSW |
1 |
130,811,179 (GRCm39) |
splice site |
probably null |
|
|
R5112:Il24
|
UTSW |
1 |
130,811,179 (GRCm39) |
splice site |
probably null |
|
|
R5590:Il24
|
UTSW |
1 |
130,810,253 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6128:Il24
|
UTSW |
1 |
130,813,435 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7061:Il24
|
UTSW |
1 |
130,811,108 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9114:Il24
|
UTSW |
1 |
130,813,483 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0021:Il24
|
UTSW |
1 |
130,813,322 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGAAAGGGATCCACAATC -3'
(R):5'- CTGGTTTTCACAAAGTACCCACTC -3'
Sequencing Primer
(F):5'- GGAACCAGCAGGAAAGTGTTC -3'
(R):5'- CTCCAATGCATACATTCATGGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation