Incidental Mutation 'IGL00778:Padi6'
| ID |
12897 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Padi6
|
| Ensembl Gene |
ENSMUSG00000040935 |
| Gene Name |
peptidyl arginine deiminase, type VI |
| Synonyms |
ePAD, Padi5, Pad6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140454666-140469954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140454934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 668
(I668L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038749]
[ENSMUST00000038893]
[ENSMUST00000071169]
|
| AlphaFold |
Q8K3V4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038749
AA Change: I668L
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: I668L
| 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: ENSMUST00000038893
|
| SMART Domains |
Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
87 |
N/A |
INTRINSIC |
|
Pfam:RCC1_2
|
148 |
179 |
6.5e-8 |
PFAM |
|
Pfam:RCC1
|
166 |
215 |
2.7e-18 |
PFAM |
|
Pfam:RCC1_2
|
202 |
231 |
5.4e-10 |
PFAM |
|
Pfam:RCC1
|
218 |
267 |
8.5e-14 |
PFAM |
|
Pfam:RCC1
|
270 |
343 |
2.9e-13 |
PFAM |
|
Pfam:RCC1_2
|
330 |
359 |
6.2e-9 |
PFAM |
|
Pfam:RCC1
|
347 |
397 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071169
|
| SMART Domains |
Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
87 |
N/A |
INTRINSIC |
|
Pfam:RCC1_2
|
148 |
179 |
6.1e-8 |
PFAM |
|
Pfam:RCC1
|
166 |
215 |
4.1e-19 |
PFAM |
|
Pfam:RCC1_2
|
202 |
231 |
5.1e-10 |
PFAM |
|
Pfam:RCC1
|
218 |
267 |
1.6e-12 |
PFAM |
|
Pfam:RCC1
|
270 |
343 |
7.5e-13 |
PFAM |
|
Pfam:RCC1_2
|
330 |
359 |
1.3e-8 |
PFAM |
|
Pfam:RCC1
|
347 |
397 |
2.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125046
|
| 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 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
| Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
| Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
| Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
| Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
| Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
| Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
| Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
| Other mutations in Padi6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation