Incidental Mutation 'R1083:Il12a'
| ID |
84908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il12a
|
| Ensembl Gene |
ENSMUSG00000027776 |
| Gene Name |
interleukin 12a |
| Synonyms |
p35, IL-12p35 |
| MMRRC Submission |
039169-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
68597977-68605880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68602666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 112
(T112M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029345]
[ENSMUST00000107816]
|
| AlphaFold |
P43431 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029345
AA Change: T133M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776
AA Change: T133M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:IL12
|
27 |
236 |
2.5e-106 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107816
AA Change: T112M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103446
Gene: ENSMUSG00000027776
AA Change: T112M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL12
|
1 |
215 |
6.8e-128 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195517
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null homozygotes have decreased NK cell responses, altered effector T cell differentiation, and increased susceptibility to parasitic infections. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
C |
6: 92,805,046 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
G |
A |
7: 66,797,322 (GRCm39) |
C986Y |
probably damaging |
Het |
| AI987944 |
A |
G |
7: 41,024,763 (GRCm39) |
V75A |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,244,378 (GRCm39) |
Y12C |
probably damaging |
Het |
| Atp11b |
G |
A |
3: 35,832,162 (GRCm39) |
|
probably benign |
Het |
| Ccer1 |
T |
A |
10: 97,530,520 (GRCm39) |
D394E |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,777,016 (GRCm39) |
N273S |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,957,663 (GRCm39) |
|
probably benign |
Het |
| Crybb3 |
A |
T |
5: 113,228,444 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
G |
A |
7: 133,950,663 (GRCm39) |
Q337* |
probably null |
Het |
| Dixdc1 |
C |
T |
9: 50,588,293 (GRCm39) |
|
probably benign |
Het |
| Dut |
GCGGC |
GCGGCCGGC |
2: 125,089,748 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,234 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
T |
C |
10: 86,491,972 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,076,643 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,487,657 (GRCm39) |
V2361D |
possibly damaging |
Het |
| Jag1 |
G |
A |
2: 136,938,152 (GRCm39) |
L283F |
probably damaging |
Het |
| Lamb2 |
A |
C |
9: 108,360,892 (GRCm39) |
D538A |
probably benign |
Het |
| Map10 |
T |
A |
8: 126,397,178 (GRCm39) |
C190* |
probably null |
Het |
| Pcnx2 |
C |
T |
8: 126,498,843 (GRCm39) |
R1552H |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,156,244 (GRCm39) |
|
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,012,418 (GRCm39) |
T276A |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,467,107 (GRCm39) |
D490G |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,398,163 (GRCm39) |
|
probably benign |
Het |
| Sbp |
T |
C |
17: 24,161,704 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,841 (GRCm39) |
L942H |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sfmbt1 |
A |
T |
14: 30,509,498 (GRCm39) |
N326Y |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,808,774 (GRCm39) |
Q389* |
probably null |
Het |
| Srrm3 |
T |
A |
5: 135,883,263 (GRCm39) |
V206E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,933 (GRCm39) |
D2270E |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,184 (GRCm39) |
I210N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,372,182 (GRCm39) |
L13R |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,809,101 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,807,569 (GRCm39) |
D1830G |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,637 (GRCm39) |
N430S |
probably benign |
Het |
|
| Other mutations in Il12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Il12a
|
APN |
3 |
68,598,888 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01820:Il12a
|
APN |
3 |
68,599,495 (GRCm39) |
splice site |
probably benign |
|
|
IGL01989:Il12a
|
APN |
3 |
68,598,909 (GRCm39) |
splice site |
probably benign |
|
|
bakers_dozen
|
UTSW |
3 |
68,605,320 (GRCm39) |
frame shift |
probably null |
|
|
R0388:Il12a
|
UTSW |
3 |
68,602,520 (GRCm39) |
splice site |
probably null |
|
|
R0646:Il12a
|
UTSW |
3 |
68,605,223 (GRCm39) |
splice site |
probably benign |
|
|
R1588:Il12a
|
UTSW |
3 |
68,602,896 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2240:Il12a
|
UTSW |
3 |
68,601,517 (GRCm39) |
nonsense |
probably null |
|
|
R2909:Il12a
|
UTSW |
3 |
68,605,320 (GRCm39) |
frame shift |
probably null |
|
|
R2925:Il12a
|
UTSW |
3 |
68,605,320 (GRCm39) |
frame shift |
probably null |
|
|
R3696:Il12a
|
UTSW |
3 |
68,605,320 (GRCm39) |
frame shift |
probably null |
|
|
R3697:Il12a
|
UTSW |
3 |
68,605,320 (GRCm39) |
frame shift |
probably null |
|
|
R3698:Il12a
|
UTSW |
3 |
68,605,320 (GRCm39) |
frame shift |
probably null |
|
|
R4332:Il12a
|
UTSW |
3 |
68,602,594 (GRCm39) |
intron |
probably benign |
|
|
R5809:Il12a
|
UTSW |
3 |
68,602,595 (GRCm39) |
intron |
probably benign |
|
|
R6279:Il12a
|
UTSW |
3 |
68,605,312 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6305:Il12a
|
UTSW |
3 |
68,601,511 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6847:Il12a
|
UTSW |
3 |
68,602,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Il12a
|
UTSW |
3 |
68,605,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Il12a
|
UTSW |
3 |
68,598,872 (GRCm39) |
missense |
unknown |
|
|
R8339:Il12a
|
UTSW |
3 |
68,599,438 (GRCm39) |
nonsense |
probably null |
|
|
R9145:Il12a
|
UTSW |
3 |
68,598,875 (GRCm39) |
missense |
unknown |
|
|
RF003:Il12a
|
UTSW |
3 |
68,602,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGAACGAGAGTTGCCTGGCTAC -3'
(R):5'- AAGGCTTACCTGCATCAGCTCATC -3'
Sequencing Primer
(F):5'- TGCCTGGCTACTAGAGAGACTTC -3'
(R):5'- ATGCCCTTGTCTAGAATGATCTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation