Incidental Mutation 'R1112:Padi4'
| ID |
96822 |
| 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 |
039185-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
140473176-140501547 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140485427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 246
(S246N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026381]
|
| AlphaFold |
Q9Z183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026381
AA Change: S246N
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
AA Change: S246N
| 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: ENSMUST00000137440
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143019
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
| Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
| Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
| Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
| Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
| Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
| Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
| Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
| Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAAGGGTCGTCATGGTCACTG -3'
(R):5'- TTGTCAGGGGAACAAGGTCCCAAG -3'
Sequencing Primer
(F):5'- GTCATGGTCACTGGCAGG -3'
(R):5'- CAAGGTCCCAAGTGGAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation