Incidental Mutation 'IGL02439:Padi4'
| ID |
293389 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Padi4
|
| Ensembl Gene |
ENSMUSG00000025330 |
| Gene Name |
peptidyl arginine deiminase, type IV |
| Synonyms |
Pdi4, Pad4, PAD type IV |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02439
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140473176-140501547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140473532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 635
(D635G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026381]
[ENSMUST00000038749]
[ENSMUST00000130267]
|
| AlphaFold |
Q9Z183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026381
AA Change: D635G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: D635G
| 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 |
probably benign
Transcript: ENSMUST00000038749
|
| SMART Domains |
Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAD_N
|
1 |
112 |
5.6e-38 |
PFAM |
|
Pfam:PAD_M
|
114 |
269 |
6e-53 |
PFAM |
|
Pfam:PAD
|
280 |
679 |
4.7e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130267
|
| SMART Domains |
Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAD_M
|
39 |
191 |
1.1e-57 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
A |
T |
14: 4,348,890 (GRCm38) |
Y17F |
probably benign |
Het |
| Ablim2 |
A |
C |
5: 36,015,206 (GRCm39) |
T507P |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,647 (GRCm39) |
Y1426C |
possibly damaging |
Het |
| Cftr |
T |
A |
6: 18,258,237 (GRCm39) |
Y592* |
probably null |
Het |
| Eogt |
C |
T |
6: 97,120,934 (GRCm39) |
G93D |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,180 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,874,582 (GRCm39) |
I1329V |
probably benign |
Het |
| Gal3st1 |
T |
C |
11: 3,948,110 (GRCm39) |
F106L |
possibly damaging |
Het |
| Gulp1 |
A |
T |
1: 44,820,164 (GRCm39) |
I216F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,455,721 (GRCm39) |
|
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,724,268 (GRCm39) |
T453I |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,417,999 (GRCm39) |
D844G |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,289,046 (GRCm39) |
C93S |
probably damaging |
Het |
| Lst1 |
T |
C |
17: 35,405,958 (GRCm39) |
I32V |
probably benign |
Het |
| Malsu1 |
T |
A |
6: 49,052,121 (GRCm39) |
Y114N |
probably damaging |
Het |
| Ndufa5 |
A |
T |
6: 24,519,201 (GRCm39) |
V41E |
probably damaging |
Het |
| Nme6 |
C |
A |
9: 109,670,999 (GRCm39) |
P80T |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,444 (GRCm39) |
R358S |
probably benign |
Het |
| Or5ac20 |
A |
G |
16: 59,104,818 (GRCm39) |
L14P |
probably damaging |
Het |
| Pcf11 |
C |
T |
7: 92,311,049 (GRCm39) |
S313N |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,015 (GRCm39) |
H309R |
probably benign |
Het |
| Pdk2 |
A |
T |
11: 94,930,323 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,060,758 (GRCm39) |
S1606G |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,910 (GRCm39) |
I230T |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,914 (GRCm39) |
R1381Q |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,027,174 (GRCm39) |
K479E |
possibly damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,567,361 (GRCm39) |
S892L |
probably damaging |
Het |
| Slc39a9 |
G |
T |
12: 80,713,350 (GRCm39) |
A83S |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,726,808 (GRCm39) |
Y483C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tas2r131 |
A |
G |
6: 132,934,732 (GRCm39) |
S26P |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,569,063 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,104,641 (GRCm39) |
E27G |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,022,978 (GRCm39) |
G1256E |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,421 (GRCm39) |
I322F |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,504,321 (GRCm39) |
V420M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,596,431 (GRCm39) |
A20161S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,654,455 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
T |
A |
18: 5,213,216 (GRCm39) |
S581C |
probably damaging |
Het |
|
| Other mutations in Padi4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1411:Padi4
|
UTSW |
4 |
140,479,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation