Incidental Mutation 'R8550:Padi6'
| ID |
659816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi6
|
| Ensembl Gene |
ENSMUSG00000040935 |
| Gene Name |
peptidyl arginine deiminase, type VI |
| Synonyms |
ePAD, Padi5, Pad6 |
| MMRRC Submission |
068515-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8550 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140454666-140469954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140460014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 359
(K359R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038749]
[ENSMUST00000130267]
|
| AlphaFold |
Q8K3V4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038749
AA Change: K359R
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: K359R
| 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 |
|
| Meta Mutation Damage Score |
0.0670 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| 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 peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,265,786 (GRCm39) |
K295* |
probably null |
Het |
| AB124611 |
A |
T |
9: 21,451,882 (GRCm39) |
D146V |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,942,599 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,593 (GRCm39) |
T449M |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| C1qc |
C |
T |
4: 136,617,587 (GRCm39) |
V170I |
possibly damaging |
Het |
| Ccl25 |
A |
G |
8: 4,377,890 (GRCm39) |
E50G |
possibly damaging |
Het |
| Clk1 |
A |
T |
1: 58,451,835 (GRCm39) |
Y427N |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,830,772 (GRCm39) |
C1707F |
probably damaging |
Het |
| Cyp4f17 |
G |
A |
17: 32,746,936 (GRCm39) |
V413I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,785,743 (GRCm39) |
W315R |
probably damaging |
Het |
| Degs1l |
A |
T |
1: 180,887,324 (GRCm39) |
D303V |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,290,652 (GRCm39) |
|
probably benign |
Het |
| Eogt |
A |
C |
6: 97,089,033 (GRCm39) |
H524Q |
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,468,182 (GRCm39) |
A270T |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,240,654 (GRCm39) |
|
probably null |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,904 (GRCm39) |
S72R |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,803,064 (GRCm39) |
T7A |
probably damaging |
Het |
| Mapk8 |
A |
T |
14: 33,124,615 (GRCm39) |
I139N |
probably damaging |
Het |
| Metap1 |
G |
A |
3: 138,172,077 (GRCm39) |
A280V |
possibly damaging |
Het |
| Mrpl35 |
T |
C |
6: 71,793,259 (GRCm39) |
K131E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,188,924 (GRCm39) |
V802A |
probably benign |
Het |
| Nlrp3 |
T |
G |
11: 59,440,097 (GRCm39) |
V558G |
probably damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,619,842 (GRCm39) |
N148K |
possibly damaging |
Het |
| Or3a1c |
A |
C |
11: 74,046,015 (GRCm39) |
I12L |
probably benign |
Het |
| Rexo5 |
A |
G |
7: 119,400,568 (GRCm39) |
T118A |
probably benign |
Het |
| Serpine1 |
A |
G |
5: 137,092,352 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,306,205 (GRCm39) |
I485T |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,511,739 (GRCm39) |
L441F |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,014,774 (GRCm39) |
D418V |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,623,063 (GRCm39) |
V511A |
possibly damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,225 (GRCm39) |
T21A |
probably damaging |
Het |
| Tia1 |
A |
G |
6: 86,402,684 (GRCm39) |
M232V |
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,837,745 (GRCm39) |
T522A |
probably benign |
Het |
| Top2a |
A |
T |
11: 98,886,744 (GRCm39) |
D1336E |
probably benign |
Het |
| Trav3-1 |
A |
C |
14: 52,818,390 (GRCm39) |
R21S |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,689,329 (GRCm39) |
|
probably benign |
Het |
| Vmn1r119 |
A |
T |
7: 20,745,980 (GRCm39) |
V134D |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,400,320 (GRCm39) |
M262T |
probably benign |
Het |
|
| Other mutations in Padi6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Padi6
|
APN |
4 |
140,454,934 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01013:Padi6
|
APN |
4 |
140,456,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01068:Padi6
|
APN |
4 |
140,458,264 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01945:Padi6
|
APN |
4 |
140,469,235 (GRCm39) |
missense |
probably benign |
0.24 |
|
streetwise
|
UTSW |
4 |
140,468,869 (GRCm39) |
nonsense |
probably null |
|
|
R0097:Padi6
|
UTSW |
4 |
140,458,268 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0097:Padi6
|
UTSW |
4 |
140,458,268 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0135:Padi6
|
UTSW |
4 |
140,464,663 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0437:Padi6
|
UTSW |
4 |
140,456,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1581:Padi6
|
UTSW |
4 |
140,463,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Padi6
|
UTSW |
4 |
140,456,279 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3150:Padi6
|
UTSW |
4 |
140,462,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Padi6
|
UTSW |
4 |
140,462,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Padi6
|
UTSW |
4 |
140,462,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3276:Padi6
|
UTSW |
4 |
140,462,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Padi6
|
UTSW |
4 |
140,462,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4168:Padi6
|
UTSW |
4 |
140,469,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4727:Padi6
|
UTSW |
4 |
140,458,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Padi6
|
UTSW |
4 |
140,469,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5382:Padi6
|
UTSW |
4 |
140,458,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Padi6
|
UTSW |
4 |
140,454,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Padi6
|
UTSW |
4 |
140,458,473 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5790:Padi6
|
UTSW |
4 |
140,459,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Padi6
|
UTSW |
4 |
140,468,869 (GRCm39) |
nonsense |
probably null |
|
|
R7533:Padi6
|
UTSW |
4 |
140,458,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7581:Padi6
|
UTSW |
4 |
140,456,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7662:Padi6
|
UTSW |
4 |
140,456,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7766:Padi6
|
UTSW |
4 |
140,458,286 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7872:Padi6
|
UTSW |
4 |
140,455,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8333:Padi6
|
UTSW |
4 |
140,464,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Padi6
|
UTSW |
4 |
140,462,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8979:Padi6
|
UTSW |
4 |
140,466,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9628:Padi6
|
UTSW |
4 |
140,464,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Padi6
|
UTSW |
4 |
140,457,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCACACCACTGACTGTCG -3'
(R):5'- AAAGCTTTGAGGGCTGAGC -3'
Sequencing Primer
(F):5'- ACTGTCGGGGGACTTATACAC -3'
(R):5'- CAGCAGATGGAGAGAATTTA -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation