Incidental Mutation 'R7096:Pdzrn4'
ID |
550514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzrn4
|
Ensembl Gene |
ENSMUSG00000036218 |
Gene Name |
PDZ domain containing RING finger 4 |
Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
MMRRC Submission |
045188-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R7096 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 92295384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 197
(Q197K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169942]
|
AlphaFold |
E9PUZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169942
AA Change: Q197K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000133159 Gene: ENSMUSG00000036218 AA Change: Q197K
Domain | Start | End | E-Value | Type |
RING
|
22 |
56 |
1.38e-1 |
SMART |
low complexity region
|
101 |
124 |
N/A |
INTRINSIC |
PDZ
|
213 |
295 |
3.82e-20 |
SMART |
PDZ
|
393 |
468 |
3.01e-18 |
SMART |
low complexity region
|
479 |
498 |
N/A |
INTRINSIC |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
coiled coil region
|
633 |
669 |
N/A |
INTRINSIC |
low complexity region
|
802 |
816 |
N/A |
INTRINSIC |
low complexity region
|
935 |
948 |
N/A |
INTRINSIC |
low complexity region
|
971 |
980 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
T |
G |
3: 40,888,305 (GRCm39) |
M383R |
probably damaging |
Het |
Acd |
T |
A |
8: 106,425,121 (GRCm39) |
E366V |
possibly damaging |
Het |
Acvr2b |
T |
A |
9: 119,257,255 (GRCm39) |
|
probably null |
Het |
Alg10b |
C |
T |
15: 90,111,564 (GRCm39) |
T136I |
probably benign |
Het |
Ankrd42 |
T |
A |
7: 92,241,040 (GRCm39) |
K440* |
probably null |
Het |
Apc |
T |
A |
18: 34,449,010 (GRCm39) |
S1969T |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,019,897 (GRCm39) |
Y447C |
probably damaging |
Het |
AW146154 |
G |
A |
7: 41,130,867 (GRCm39) |
A83V |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Barhl1 |
T |
G |
2: 28,799,726 (GRCm39) |
I300L |
probably benign |
Het |
Brd1 |
C |
A |
15: 88,598,138 (GRCm39) |
R536L |
probably damaging |
Het |
Brms1 |
T |
A |
19: 5,096,708 (GRCm39) |
I130N |
probably damaging |
Het |
Ccdc68 |
A |
G |
18: 70,073,241 (GRCm39) |
H63R |
probably damaging |
Het |
Ccl28 |
A |
G |
13: 120,112,429 (GRCm39) |
I74V |
probably benign |
Het |
Cd300ld |
T |
A |
11: 114,878,321 (GRCm39) |
I64F |
possibly damaging |
Het |
Cdkl2 |
G |
A |
5: 92,181,043 (GRCm39) |
Q199* |
probably null |
Het |
Cdkn2c |
C |
T |
4: 109,518,555 (GRCm39) |
R133Q |
probably benign |
Het |
Coq2 |
A |
G |
5: 100,811,586 (GRCm39) |
|
probably benign |
Het |
Coq6 |
T |
C |
12: 84,408,595 (GRCm39) |
|
probably null |
Het |
Csmd2 |
C |
T |
4: 128,356,519 (GRCm39) |
S1608L |
|
Het |
Cyp11b2 |
T |
A |
15: 74,727,837 (GRCm39) |
R82W |
probably damaging |
Het |
Cyp2d10 |
T |
C |
15: 82,289,462 (GRCm39) |
T217A |
probably benign |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,522,599 (GRCm39) |
I2880V |
possibly damaging |
Het |
Dync1h1 |
C |
A |
12: 110,623,512 (GRCm39) |
T3595K |
probably damaging |
Het |
Ecscr |
T |
A |
18: 35,848,478 (GRCm39) |
E183V |
probably damaging |
Het |
Elovl6 |
A |
G |
3: 129,398,755 (GRCm39) |
N52S |
probably benign |
Het |
Eps8l1 |
G |
T |
7: 4,477,190 (GRCm39) |
A455S |
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,270,209 (GRCm39) |
N74S |
probably benign |
Het |
Gstk1 |
C |
A |
6: 42,226,407 (GRCm39) |
T172K |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,295,731 (GRCm39) |
|
probably null |
Het |
Gucy2c |
T |
C |
6: 136,705,339 (GRCm39) |
D532G |
probably benign |
Het |
Hoxc12 |
T |
A |
15: 102,845,473 (GRCm39) |
N62K |
possibly damaging |
Het |
Hsdl1 |
C |
A |
8: 120,293,064 (GRCm39) |
A124S |
possibly damaging |
Het |
Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
Lcat |
C |
T |
8: 106,666,309 (GRCm39) |
M404I |
possibly damaging |
Het |
Ldhb |
A |
G |
6: 142,447,099 (GRCm39) |
F72L |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,662 (GRCm39) |
L685P |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,927,961 (GRCm39) |
V174A |
probably benign |
Het |
Med13l |
C |
A |
5: 118,859,991 (GRCm39) |
Q328K |
possibly damaging |
Het |
Mta2 |
A |
T |
19: 8,925,139 (GRCm39) |
I336F |
probably damaging |
Het |
Mterf1a |
A |
T |
5: 3,941,769 (GRCm39) |
I33N |
probably damaging |
Het |
Myo15b |
T |
A |
11: 115,782,324 (GRCm39) |
|
probably null |
Het |
Myof |
C |
A |
19: 37,924,648 (GRCm39) |
G1215V |
probably damaging |
Het |
Nlgn2 |
G |
A |
11: 69,716,516 (GRCm39) |
T675M |
probably damaging |
Het |
Or1e26 |
T |
A |
11: 73,480,463 (GRCm39) |
M34L |
probably benign |
Het |
Or5p61 |
C |
A |
7: 107,758,848 (GRCm39) |
M77I |
probably benign |
Het |
Or6c38 |
T |
C |
10: 128,929,715 (GRCm39) |
I43V |
probably damaging |
Het |
Padi3 |
T |
C |
4: 140,527,435 (GRCm39) |
D122G |
probably damaging |
Het |
Pcnx3 |
G |
A |
19: 5,722,643 (GRCm39) |
R1350C |
probably damaging |
Het |
Pitpnm2 |
C |
T |
5: 124,267,324 (GRCm39) |
G639S |
possibly damaging |
Het |
Piwil4 |
T |
A |
9: 14,648,112 (GRCm39) |
K156* |
probably null |
Het |
Pkmyt1 |
T |
A |
17: 23,953,087 (GRCm39) |
H214Q |
probably damaging |
Het |
Pnpt1 |
G |
A |
11: 29,104,867 (GRCm39) |
R597Q |
probably benign |
Het |
Poteg |
C |
A |
8: 27,963,595 (GRCm39) |
A344E |
probably benign |
Het |
Rad21l |
A |
G |
2: 151,509,840 (GRCm39) |
M87T |
probably benign |
Het |
Ranbp17 |
T |
C |
11: 33,424,896 (GRCm39) |
I487V |
probably benign |
Het |
Rap1gap2 |
C |
A |
11: 74,283,057 (GRCm39) |
R681L |
probably damaging |
Het |
Rimbp2 |
C |
A |
5: 128,851,333 (GRCm39) |
R871L |
probably damaging |
Het |
Rnf135 |
T |
C |
11: 80,080,051 (GRCm39) |
V114A |
probably benign |
Het |
Skic2 |
T |
A |
17: 35,060,446 (GRCm39) |
H849L |
probably benign |
Het |
Snai2 |
A |
G |
16: 14,525,028 (GRCm39) |
H178R |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Taar1 |
A |
T |
10: 23,796,809 (GRCm39) |
E169V |
possibly damaging |
Het |
Tdrd12 |
G |
T |
7: 35,187,014 (GRCm39) |
D625E |
|
Het |
Tlr6 |
A |
G |
5: 65,111,119 (GRCm39) |
V596A |
probably benign |
Het |
Trak2 |
T |
G |
1: 58,942,749 (GRCm39) |
N886H |
probably damaging |
Het |
Tsga10 |
T |
A |
1: 37,879,695 (GRCm39) |
D32V |
probably damaging |
Het |
Vmn1r214 |
A |
G |
13: 23,219,196 (GRCm39) |
D230G |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,682,762 (GRCm39) |
L814S |
probably damaging |
Het |
Zbbx |
T |
C |
3: 74,989,044 (GRCm39) |
D353G |
probably benign |
Het |
|
Other mutations in Pdzrn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01932:Pdzrn4
|
APN |
15 |
92,644,159 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01991:Pdzrn4
|
APN |
15 |
92,299,807 (GRCm39) |
splice site |
probably null |
|
IGL02103:Pdzrn4
|
APN |
15 |
92,667,768 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02243:Pdzrn4
|
APN |
15 |
92,668,577 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02269:Pdzrn4
|
APN |
15 |
92,667,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03005:Pdzrn4
|
APN |
15 |
92,668,272 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4362001:Pdzrn4
|
UTSW |
15 |
92,667,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0243:Pdzrn4
|
UTSW |
15 |
92,668,200 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0367:Pdzrn4
|
UTSW |
15 |
92,655,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0972:Pdzrn4
|
UTSW |
15 |
92,655,592 (GRCm39) |
missense |
probably benign |
0.00 |
R1168:Pdzrn4
|
UTSW |
15 |
92,668,152 (GRCm39) |
missense |
probably benign |
0.16 |
R1411:Pdzrn4
|
UTSW |
15 |
92,668,894 (GRCm39) |
makesense |
probably null |
|
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1489:Pdzrn4
|
UTSW |
15 |
92,575,593 (GRCm39) |
missense |
probably benign |
|
R1503:Pdzrn4
|
UTSW |
15 |
92,297,685 (GRCm39) |
missense |
probably damaging |
0.99 |
R1561:Pdzrn4
|
UTSW |
15 |
92,575,518 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1584:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1733:Pdzrn4
|
UTSW |
15 |
92,299,855 (GRCm39) |
missense |
probably benign |
0.06 |
R1965:Pdzrn4
|
UTSW |
15 |
92,644,190 (GRCm39) |
splice site |
probably null |
|
R2061:Pdzrn4
|
UTSW |
15 |
92,668,041 (GRCm39) |
missense |
probably damaging |
0.99 |
R3010:Pdzrn4
|
UTSW |
15 |
92,667,692 (GRCm39) |
missense |
probably benign |
0.32 |
R4016:Pdzrn4
|
UTSW |
15 |
92,297,630 (GRCm39) |
missense |
probably benign |
|
R4032:Pdzrn4
|
UTSW |
15 |
92,667,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R4110:Pdzrn4
|
UTSW |
15 |
92,668,745 (GRCm39) |
missense |
probably benign |
0.26 |
R4180:Pdzrn4
|
UTSW |
15 |
92,299,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4539:Pdzrn4
|
UTSW |
15 |
92,668,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4617:Pdzrn4
|
UTSW |
15 |
92,667,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Pdzrn4
|
UTSW |
15 |
92,668,133 (GRCm39) |
nonsense |
probably null |
|
R4900:Pdzrn4
|
UTSW |
15 |
92,668,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R5422:Pdzrn4
|
UTSW |
15 |
92,575,502 (GRCm39) |
missense |
probably benign |
0.01 |
R5444:Pdzrn4
|
UTSW |
15 |
92,668,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R5772:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R5775:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Pdzrn4
|
UTSW |
15 |
92,295,255 (GRCm39) |
missense |
probably benign |
0.01 |
R6192:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6210:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6391:Pdzrn4
|
UTSW |
15 |
92,578,418 (GRCm39) |
missense |
probably damaging |
0.99 |
R6613:Pdzrn4
|
UTSW |
15 |
92,575,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R7046:Pdzrn4
|
UTSW |
15 |
92,668,303 (GRCm39) |
nonsense |
probably null |
|
R7451:Pdzrn4
|
UTSW |
15 |
92,667,948 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8075:Pdzrn4
|
UTSW |
15 |
92,575,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R8125:Pdzrn4
|
UTSW |
15 |
92,641,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Pdzrn4
|
UTSW |
15 |
92,668,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Pdzrn4
|
UTSW |
15 |
92,295,216 (GRCm39) |
missense |
probably benign |
|
R9555:Pdzrn4
|
UTSW |
15 |
92,297,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R9558:Pdzrn4
|
UTSW |
15 |
92,299,877 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9622:Pdzrn4
|
UTSW |
15 |
92,294,949 (GRCm39) |
missense |
probably benign |
|
R9763:Pdzrn4
|
UTSW |
15 |
92,668,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9796:Pdzrn4
|
UTSW |
15 |
92,578,353 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0018:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0020:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0021:Pdzrn4
|
UTSW |
15 |
92,575,590 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0027:Pdzrn4
|
UTSW |
15 |
92,578,393 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0027:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0065:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Pdzrn4
|
UTSW |
15 |
92,294,838 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCAACTACAGCGGACAG -3'
(R):5'- CCTAAACGGTGTTTCTGGGG -3'
Sequencing Primer
(F):5'- ACCAAGACCTGCTGGAGTG -3'
(R):5'- TTCTGGGGCAGCGATGCAG -3'
|
Posted On |
2019-05-15 |