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 |