Incidental Mutation 'R0097:Padi6'
| ID |
41150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi6
|
| Ensembl Gene |
ENSMUSG00000040935 |
| Gene Name |
peptidyl arginine deiminase, type VI |
| Synonyms |
ePAD, Padi5, Pad6 |
| MMRRC Submission |
038383-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140454666-140469954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140458268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 513
(V513M)
|
| 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: V513M
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: V513M
| 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 |
noncoding transcript
Transcript: ENSMUST00000125046
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
| Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
| Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
| Bbs10 |
T |
C |
10: 111,134,705 (GRCm39) |
V41A |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
| Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,550,078 (GRCm39) |
N87S |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,036,102 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
G |
T |
19: 40,036,103 (GRCm39) |
|
probably benign |
Het |
| Dab2ip |
G |
A |
2: 35,608,928 (GRCm39) |
V629M |
possibly damaging |
Het |
| Ddx41 |
A |
T |
13: 55,683,691 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Llgl2 |
T |
A |
11: 115,735,323 (GRCm39) |
Y59* |
probably null |
Het |
| Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
| Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
| Ncam2 |
A |
G |
16: 81,314,425 (GRCm39) |
D467G |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
| Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
| Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
| Pign |
G |
A |
1: 105,515,701 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
T |
C |
10: 79,366,371 (GRCm39) |
E91G |
possibly damaging |
Het |
| Pnp |
T |
A |
14: 51,188,873 (GRCm39) |
V222D |
probably damaging |
Het |
| Pnp2 |
C |
T |
14: 51,200,958 (GRCm39) |
R148C |
probably benign |
Het |
| Pramel30 |
T |
C |
4: 144,057,857 (GRCm39) |
S155P |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,418,227 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Rhox4f |
A |
C |
X: 36,789,122 (GRCm39) |
V15G |
probably benign |
Het |
| Rsl1 |
A |
C |
13: 67,329,966 (GRCm39) |
Q138P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
| Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,098,159 (GRCm39) |
E54G |
probably damaging |
Het |
| T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
| Tppp3 |
C |
T |
8: 106,194,554 (GRCm39) |
A149T |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
| Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
| Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
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 |
|
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 |
|
R8550:Padi6
|
UTSW |
4 |
140,460,014 (GRCm39) |
missense |
probably benign |
0.15 |
|
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'- CGGGTGTAAGGTGTCCCAACAATG -3'
(R):5'- CGACCAGAAGGTTGGTGTTAGAGC -3'
Sequencing Primer
(F):5'- agtcataacaatagcaaggttacag -3'
(R):5'- TGGTGTTAGAGCCGGAGAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation