Incidental Mutation 'IGL03206:Ppp4r3a'
| ID |
413143 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp4r3a
|
| Ensembl Gene |
ENSMUSG00000041846 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3A |
| Synonyms |
1110034C04Rik, Smek1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
IGL03206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101024878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 207
(L207H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048305]
[ENSMUST00000163095]
|
| AlphaFold |
Q6P2K6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048305
AA Change: L207H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: L207H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
7 |
96 |
3e-24 |
SMART |
|
Pfam:SMK-1
|
164 |
357 |
5.8e-85 |
PFAM |
|
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
808 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163095
AA Change: L207H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: L207H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
7 |
96 |
4e-24 |
SMART |
|
Pfam:SMK-1
|
166 |
357 |
2.5e-84 |
PFAM |
|
low complexity region
|
508 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223161
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,239 (GRCm39) |
E939D |
possibly damaging |
Het |
| Aloxe3 |
C |
A |
11: 69,020,472 (GRCm39) |
A172D |
possibly damaging |
Het |
| Bscl2 |
G |
A |
19: 8,820,453 (GRCm39) |
R158Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,414,602 (GRCm39) |
D1159G |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,714,023 (GRCm39) |
V203A |
probably benign |
Het |
| Chml |
T |
C |
1: 175,515,303 (GRCm39) |
D206G |
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,872,090 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,752,719 (GRCm39) |
Y77F |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,394,430 (GRCm39) |
N128K |
possibly damaging |
Het |
| Gjd2 |
A |
G |
2: 113,842,204 (GRCm39) |
L91P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,314 (GRCm39) |
|
probably benign |
Het |
| Gpr161 |
T |
A |
1: 165,149,218 (GRCm39) |
L529Q |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,522,776 (GRCm39) |
Y151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,846,546 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,800 (GRCm39) |
V1241A |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,055 (GRCm39) |
N1321S |
probably benign |
Het |
| Lrat |
T |
A |
3: 82,810,656 (GRCm39) |
I122F |
probably damaging |
Het |
| Myl10 |
C |
T |
5: 136,726,796 (GRCm39) |
Q106* |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,148,660 (GRCm39) |
Y1018N |
possibly damaging |
Het |
| Ndrg1 |
C |
T |
15: 66,814,936 (GRCm39) |
W172* |
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,153,701 (GRCm39) |
M264T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,227,278 (GRCm39) |
R677S |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,314,667 (GRCm39) |
T306A |
probably benign |
Het |
| Numb |
A |
G |
12: 83,872,070 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,487,725 (GRCm39) |
I9K |
possibly damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,536 (GRCm39) |
M59L |
probably benign |
Het |
| Or5p58 |
C |
T |
7: 107,694,261 (GRCm39) |
C172Y |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,883,261 (GRCm39) |
D94E |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,345 (GRCm39) |
Q397K |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,301,369 (GRCm39) |
I674N |
probably damaging |
Het |
| Retnlg |
G |
T |
16: 48,694,655 (GRCm39) |
C101F |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,993,634 (GRCm39) |
I849N |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,382,014 (GRCm39) |
I161T |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,315,771 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
A |
C |
11: 86,976,814 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
C |
A |
13: 65,183,407 (GRCm39) |
N316K |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,082,400 (GRCm39) |
S726P |
probably damaging |
Het |
| Trim69 |
A |
C |
2: 122,003,636 (GRCm39) |
D195A |
probably benign |
Het |
| Ttc16 |
T |
G |
2: 32,661,897 (GRCm39) |
|
probably null |
Het |
| Usp53 |
T |
A |
3: 122,746,832 (GRCm39) |
M405L |
probably benign |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,734,601 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
T |
C |
7: 27,577,248 (GRCm39) |
I106T |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,204,613 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,546,406 (GRCm39) |
M868V |
possibly damaging |
Het |
|
| Other mutations in Ppp4r3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Ppp4r3a
|
APN |
12 |
101,016,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00532:Ppp4r3a
|
APN |
12 |
101,010,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01359:Ppp4r3a
|
APN |
12 |
101,024,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01873:Ppp4r3a
|
APN |
12 |
101,008,094 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02676:Ppp4r3a
|
APN |
12 |
101,008,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02756:Ppp4r3a
|
APN |
12 |
101,024,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03196:Ppp4r3a
|
APN |
12 |
101,015,913 (GRCm39) |
splice site |
probably benign |
|
|
R1101:Ppp4r3a
|
UTSW |
12 |
101,017,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1434:Ppp4r3a
|
UTSW |
12 |
101,009,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1526:Ppp4r3a
|
UTSW |
12 |
101,007,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1554:Ppp4r3a
|
UTSW |
12 |
101,022,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Ppp4r3a
|
UTSW |
12 |
101,010,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Ppp4r3a
|
UTSW |
12 |
101,024,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2152:Ppp4r3a
|
UTSW |
12 |
101,008,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2322:Ppp4r3a
|
UTSW |
12 |
101,008,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2421:Ppp4r3a
|
UTSW |
12 |
101,008,912 (GRCm39) |
splice site |
probably benign |
|
|
R2422:Ppp4r3a
|
UTSW |
12 |
101,008,912 (GRCm39) |
splice site |
probably benign |
|
|
R2859:Ppp4r3a
|
UTSW |
12 |
101,008,906 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2884:Ppp4r3a
|
UTSW |
12 |
101,034,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4157:Ppp4r3a
|
UTSW |
12 |
101,021,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4651:Ppp4r3a
|
UTSW |
12 |
101,049,170 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4652:Ppp4r3a
|
UTSW |
12 |
101,049,170 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4706:Ppp4r3a
|
UTSW |
12 |
101,008,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Ppp4r3a
|
UTSW |
12 |
101,049,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4775:Ppp4r3a
|
UTSW |
12 |
101,019,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5467:Ppp4r3a
|
UTSW |
12 |
101,009,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5634:Ppp4r3a
|
UTSW |
12 |
101,009,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Ppp4r3a
|
UTSW |
12 |
101,049,619 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5707:Ppp4r3a
|
UTSW |
12 |
101,024,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Ppp4r3a
|
UTSW |
12 |
101,017,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Ppp4r3a
|
UTSW |
12 |
101,009,838 (GRCm39) |
missense |
probably benign |
|
|
R6030:Ppp4r3a
|
UTSW |
12 |
101,024,659 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6030:Ppp4r3a
|
UTSW |
12 |
101,024,659 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6630:Ppp4r3a
|
UTSW |
12 |
101,016,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Ppp4r3a
|
UTSW |
12 |
101,019,770 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7352:Ppp4r3a
|
UTSW |
12 |
101,008,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Ppp4r3a
|
UTSW |
12 |
101,025,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7761:Ppp4r3a
|
UTSW |
12 |
101,022,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7808:Ppp4r3a
|
UTSW |
12 |
101,019,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7811:Ppp4r3a
|
UTSW |
12 |
101,019,821 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8062:Ppp4r3a
|
UTSW |
12 |
101,008,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8222:Ppp4r3a
|
UTSW |
12 |
101,008,164 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8409:Ppp4r3a
|
UTSW |
12 |
101,008,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8435:Ppp4r3a
|
UTSW |
12 |
101,049,048 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8471:Ppp4r3a
|
UTSW |
12 |
101,021,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9010:Ppp4r3a
|
UTSW |
12 |
101,024,591 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9137:Ppp4r3a
|
UTSW |
12 |
101,021,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9335:Ppp4r3a
|
UTSW |
12 |
101,007,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Ppp4r3a
|
UTSW |
12 |
101,015,919 (GRCm39) |
missense |
probably benign |
|
|
R9666:Ppp4r3a
|
UTSW |
12 |
101,049,129 (GRCm39) |
start codon destroyed |
probably null |
0.39 |
|
R9752:Ppp4r3a
|
UTSW |
12 |
101,008,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation