Incidental Mutation 'R3150:Padi6'
| ID |
271620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Padi6
|
| Ensembl Gene |
ENSMUSG00000040935 |
| Gene Name |
peptidyl arginine deiminase, type VI |
| Synonyms |
ePAD, Padi5, Pad6 |
| 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 |
140454666-140469954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140462700 bp (GRCm39)
|
| 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 |
|---|
| Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
| Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
| Csf2ra |
C |
A |
19: 61,215,758 (GRCm39) |
A16S |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
G |
A |
16: 4,534,333 (GRCm39) |
T36I |
probably damaging |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,488 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
|
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 |
|
| 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