Incidental Mutation 'R1411:Padi4'
| ID |
200794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi4
|
| Ensembl Gene |
ENSMUSG00000025330 |
| Gene Name |
peptidyl arginine deiminase, type IV |
| Synonyms |
Pdi4, Pad4, PAD type IV |
| MMRRC Submission |
039467-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140473176-140501547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140479914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 413
(S413N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026381]
|
| AlphaFold |
Q9Z183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026381
AA Change: S413N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: S413N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAD_N
|
1 |
111 |
2.3e-38 |
PFAM |
|
Pfam:PAD_M
|
113 |
273 |
2.4e-63 |
PFAM |
|
Pfam:PAD
|
283 |
663 |
2.4e-176 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143019
|
| Meta Mutation Damage Score |
0.3593 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice are viable albeit reduced number than expected were born from heterozygous crosses, and shows decreased antibacterial immune responses. Mice homozygous for a different knock-out allele exhibit decreased weight loss in response to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,374 (GRCm39) |
I85F |
probably damaging |
Het |
| Acp4 |
A |
G |
7: 43,906,267 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,259,177 (GRCm39) |
F1080L |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,547 (GRCm39) |
M30K |
probably benign |
Het |
| Cdc73 |
A |
G |
1: 143,485,252 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,019,177 (GRCm39) |
L34Q |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,462,103 (GRCm39) |
V738I |
probably benign |
Het |
| Cpeb2 |
T |
G |
5: 43,391,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,035 (GRCm39) |
D265V |
probably damaging |
Het |
| Cyp2j11 |
A |
G |
4: 96,233,453 (GRCm39) |
I81T |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,530,262 (GRCm39) |
E235G |
probably damaging |
Het |
| Dgkq |
C |
A |
5: 108,798,228 (GRCm39) |
V677F |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,217,441 (GRCm39) |
N928S |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,517,126 (GRCm39) |
V1054M |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,798 (GRCm39) |
D614G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,071,858 (GRCm39) |
F247L |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,968,632 (GRCm39) |
N228S |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,146,791 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gvin-ps3 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Gzma |
C |
T |
13: 113,232,742 (GRCm39) |
V117I |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,301,663 (GRCm39) |
T3798K |
probably benign |
Het |
| Il1rapl1 |
T |
A |
X: 85,790,904 (GRCm39) |
S679C |
possibly damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,045 (GRCm39) |
A607T |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,136 (GRCm39) |
M319K |
probably damaging |
Het |
| Mroh2b |
A |
C |
15: 4,947,799 (GRCm39) |
H538P |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,233,807 (GRCm39) |
T1733A |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,098,435 (GRCm39) |
T8I |
possibly damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,894 (GRCm39) |
*1015W |
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,444,120 (GRCm39) |
P2314L |
probably damaging |
Het |
| Serpinb9c |
C |
G |
13: 33,335,817 (GRCm39) |
V212L |
probably benign |
Het |
| Slc25a23 |
A |
G |
17: 57,366,622 (GRCm39) |
F18L |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,570,251 (GRCm39) |
N751K |
probably damaging |
Het |
| Tfip11 |
G |
T |
5: 112,480,899 (GRCm39) |
V292L |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,702 (GRCm39) |
K1201R |
unknown |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,671 (GRCm39) |
F322L |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,849 (GRCm39) |
V21A |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,107 (GRCm39) |
I699K |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,679,527 (GRCm39) |
N566D |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,127,231 (GRCm39) |
D141E |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,634 (GRCm39) |
S364P |
probably benign |
Het |
|
| Other mutations in Padi4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02439:Padi4
|
APN |
4 |
140,473,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Padi4
|
UTSW |
4 |
140,475,760 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0528:Padi4
|
UTSW |
4 |
140,496,740 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0544:Padi4
|
UTSW |
4 |
140,475,760 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0547:Padi4
|
UTSW |
4 |
140,475,760 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0548:Padi4
|
UTSW |
4 |
140,475,760 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0633:Padi4
|
UTSW |
4 |
140,484,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1112:Padi4
|
UTSW |
4 |
140,485,427 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1573:Padi4
|
UTSW |
4 |
140,484,881 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1741:Padi4
|
UTSW |
4 |
140,473,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Padi4
|
UTSW |
4 |
140,487,251 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2257:Padi4
|
UTSW |
4 |
140,487,251 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5257:Padi4
|
UTSW |
4 |
140,473,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5266:Padi4
|
UTSW |
4 |
140,473,442 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6044:Padi4
|
UTSW |
4 |
140,475,438 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6057:Padi4
|
UTSW |
4 |
140,487,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6180:Padi4
|
UTSW |
4 |
140,483,784 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7197:Padi4
|
UTSW |
4 |
140,488,969 (GRCm39) |
nonsense |
probably null |
|
|
R7395:Padi4
|
UTSW |
4 |
140,488,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Padi4
|
UTSW |
4 |
140,475,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Padi4
|
UTSW |
4 |
140,484,841 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8697:Padi4
|
UTSW |
4 |
140,485,230 (GRCm39) |
frame shift |
probably null |
|
|
R8857:Padi4
|
UTSW |
4 |
140,501,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9060:Padi4
|
UTSW |
4 |
140,477,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Padi4
|
UTSW |
4 |
140,479,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Padi4
|
UTSW |
4 |
140,479,950 (GRCm39) |
missense |
probably benign |
0.15 |
|
RF004:Padi4
|
UTSW |
4 |
140,487,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Padi4
|
UTSW |
4 |
140,473,435 (GRCm39) |
makesense |
probably null |
|
|
Z1177:Padi4
|
UTSW |
4 |
140,483,758 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGGCTTCCTCTCAATGTTTGC -3'
(R):5'- AAGGAACCTTGCTTTCACTCATCCC -3'
Sequencing Primer
(F):5'- CTGACCTCTTAGGTTTGGAGAAC -3'
(R):5'- atccgcctgactctgcc -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation