Incidental Mutation 'R4168:Padi6'
| ID |
371092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi6
|
| Ensembl Gene |
ENSMUSG00000040935 |
| Gene Name |
peptidyl arginine deiminase, type VI |
| Synonyms |
ePAD, Padi5, Pad6 |
| MMRRC Submission |
041009-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140454666-140469954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140469245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 32
(C32R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026381]
[ENSMUST00000038749]
[ENSMUST00000130267]
|
| AlphaFold |
Q8K3V4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026381
|
| SMART Domains |
Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330
| 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 damaging
Transcript: ENSMUST00000038749
AA Change: C32R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: C32R
| 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 |
0.1584 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (39/40) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
| Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
| Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
| Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
| Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
| Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
| Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
| Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
possibly damaging |
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 |
|
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'- TAGGTTAAAGGTTACCCCTCTCCC -3'
(R):5'- ATCCATCAAAGGCGTGGAGG -3'
Sequencing Primer
(F):5'- GCTCACCTTGTCTTCATCCACAG -3'
(R):5'- ATGGATGCAGACTCCAGA -3'
|
| Posted On |
2016-02-16 |
Incidental Mutation