Incidental Mutation 'R3150:Padi6'
| ID |
271620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi6
|
| Ensembl Gene |
ENSMUSG00000040935 |
| Gene Name |
peptidyl arginine deiminase, type VI |
| Synonyms |
Padi5, Pad6, ePAD |
| MMRRC Submission |
040602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3150 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
140727355-140742643 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140735389 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 307
(L307P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038749]
[ENSMUST00000130267]
|
| AlphaFold |
Q8K3V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038749
AA Change: L307P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: L307P
| 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 |
0.1502 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530053A07Rik |
C |
A |
7: 28,154,195 (GRCm38) |
T1528N |
probably benign |
Het |
| Akna |
A |
T |
4: 63,395,353 (GRCm38) |
S178T |
possibly damaging |
Het |
| BC067074 |
A |
T |
13: 113,351,760 (GRCm38) |
Q105H |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,656,911 (GRCm38) |
L1850P |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,067,652 (GRCm38) |
A416E |
possibly damaging |
Het |
| Ces1g |
C |
T |
8: 93,325,816 (GRCm38) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,657,137 (GRCm38) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,413,859 (GRCm38) |
|
probably null |
Het |
| Csf2ra |
C |
A |
19: 61,227,320 (GRCm38) |
A16S |
possibly damaging |
Het |
| Cyp4f18 |
T |
C |
8: 71,993,200 (GRCm38) |
D317G |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,612,982 (GRCm38) |
M291K |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 105,717,221 (GRCm38) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,730,349 (GRCm38) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 41,288,380 (GRCm38) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,244,315 (GRCm38) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,266,561 (GRCm38) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,385,792 (GRCm38) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 128,190,981 (GRCm38) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,371,992 (GRCm38) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,145,450 (GRCm38) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,348,431 (GRCm38) |
|
probably null |
Het |
| Nmral1 |
G |
A |
16: 4,716,469 (GRCm38) |
T36I |
probably damaging |
Het |
| Olfr1231 |
C |
T |
2: 89,303,218 (GRCm38) |
V125M |
possibly damaging |
Het |
| Olfr1475 |
A |
G |
19: 13,479,460 (GRCm38) |
V246A |
probably damaging |
Het |
| Olfr860 |
A |
G |
9: 19,846,214 (GRCm38) |
I135T |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,579,791 (GRCm38) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,023,765 (GRCm38) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,458,492 (GRCm38) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,970,269 (GRCm38) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,693,308 (GRCm38) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,170,030 (GRCm38) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,464,554 (GRCm38) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,292,589 (GRCm38) |
T216A |
probably benign |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm38) |
|
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,475,825 (GRCm38) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,160,581 (GRCm38) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,472,555 (GRCm38) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 145,086,790 (GRCm38) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 30,271,670 (GRCm38) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,242,247 (GRCm38) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,273,785 (GRCm38) |
I43N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,277,270 (GRCm38) |
T51A |
possibly 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 |
|
IGL01013:Padi6
|
APN |
4 |
140,729,003 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGAGTCACGACTGGAAGTG -3'
(R):5'- ACTGAAGCTCTCGGTACAGC -3'
Sequencing Primer
(F):5'- TGGAAGTGTCCCCACAACTG -3'
(R):5'- GTGTTAACAGAAAGCAGGCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation