Incidental Mutation 'IGL01013:Padi6'
| ID |
53522 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Padi6
|
| Ensembl Gene |
ENSMUSG00000040935 |
| Gene Name |
peptidyl arginine deiminase, type VI |
| Synonyms |
Padi5, Pad6, ePAD |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140727355-140742643 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140729003 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 560
(L560P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038749]
|
| AlphaFold |
Q8K3V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038749
AA Change: L560P
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: L560P
| 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
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 76,886,206 (GRCm38) |
E499D |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,038,185 (GRCm38) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,650,989 (GRCm38) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,949,476 (GRCm38) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,323,087 (GRCm38) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,689,013 (GRCm38) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,581,339 (GRCm38) |
P1534L |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 25,789,054 (GRCm38) |
E313G |
possibly damaging |
Het |
| Cep57l1 |
G |
A |
10: 41,740,869 (GRCm38) |
R141* |
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,599,297 (GRCm38) |
Q883* |
probably null |
Het |
| Crot |
A |
G |
5: 8,993,575 (GRCm38) |
Y16H |
probably benign |
Het |
| Cyld |
T |
G |
8: 88,742,362 (GRCm38) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,031,395 (GRCm38) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,729,369 (GRCm38) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,267,786 (GRCm38) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm38) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 109,579,021 (GRCm38) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,334,304 (GRCm38) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,399,691 (GRCm38) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 139,017,573 (GRCm38) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,370,517 (GRCm38) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,762,590 (GRCm38) |
C202S |
possibly damaging |
Het |
| Lmod2 |
C |
A |
6: 24,604,135 (GRCm38) |
Q370K |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,827,526 (GRCm38) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 112,997,585 (GRCm38) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,327,860 (GRCm38) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,328,425 (GRCm38) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 4,030,716 (GRCm38) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,648,066 (GRCm38) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,283,601 (GRCm38) |
I355T |
possibly damaging |
Het |
| Parl |
C |
A |
16: 20,282,790 (GRCm38) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,793,834 (GRCm38) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,146,129 (GRCm38) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,404,383 (GRCm38) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,284,227 (GRCm38) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,944,433 (GRCm38) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,232,472 (GRCm38) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,625,065 (GRCm38) |
R3Q |
probably damaging |
Het |
| Tbc1d32 |
G |
T |
10: 56,201,959 (GRCm38) |
|
probably null |
Het |
| Tcf7l2 |
T |
C |
19: 55,919,627 (GRCm38) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,722,029 (GRCm38) |
V498L |
probably benign |
Het |
| Tymp |
G |
A |
15: 89,376,310 (GRCm38) |
H102Y |
probably damaging |
Het |
| Wdr76 |
T |
C |
2: 121,535,497 (GRCm38) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,839,956 (GRCm38) |
I41T |
probably damaging |
Het |
|
| Other mutations in Padi6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Padi6
|
APN |
4 |
140,727,623 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL01068:Padi6
|
APN |
4 |
140,730,953 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL01945:Padi6
|
APN |
4 |
140,741,924 (GRCm38) |
missense |
probably benign |
0.24 |
|
streetwise
|
UTSW |
4 |
140,741,558 (GRCm38) |
nonsense |
probably null |
|
|
R0097:Padi6
|
UTSW |
4 |
140,730,957 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0097:Padi6
|
UTSW |
4 |
140,730,957 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0135:Padi6
|
UTSW |
4 |
140,737,352 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0437:Padi6
|
UTSW |
4 |
140,728,929 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1581:Padi6
|
UTSW |
4 |
140,735,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2024:Padi6
|
UTSW |
4 |
140,728,968 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R3150:Padi6
|
UTSW |
4 |
140,735,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3176:Padi6
|
UTSW |
4 |
140,735,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3177:Padi6
|
UTSW |
4 |
140,735,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3276:Padi6
|
UTSW |
4 |
140,735,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3277:Padi6
|
UTSW |
4 |
140,735,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4168:Padi6
|
UTSW |
4 |
140,741,934 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4727:Padi6
|
UTSW |
4 |
140,731,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5063:Padi6
|
UTSW |
4 |
140,741,880 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5382:Padi6
|
UTSW |
4 |
140,731,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5408:Padi6
|
UTSW |
4 |
140,727,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5604:Padi6
|
UTSW |
4 |
140,731,162 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5790:Padi6
|
UTSW |
4 |
140,732,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7084:Padi6
|
UTSW |
4 |
140,741,558 (GRCm38) |
nonsense |
probably null |
|
|
R7533:Padi6
|
UTSW |
4 |
140,731,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7581:Padi6
|
UTSW |
4 |
140,728,929 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7662:Padi6
|
UTSW |
4 |
140,728,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7766:Padi6
|
UTSW |
4 |
140,730,975 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7872:Padi6
|
UTSW |
4 |
140,727,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8333:Padi6
|
UTSW |
4 |
140,737,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8347:Padi6
|
UTSW |
4 |
140,735,408 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8550:Padi6
|
UTSW |
4 |
140,732,703 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8979:Padi6
|
UTSW |
4 |
140,739,163 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9628:Padi6
|
UTSW |
4 |
140,737,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF007:Padi6
|
UTSW |
4 |
140,729,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation