Incidental Mutation 'R1489:Pdzrn4'
ID |
163626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzrn4
|
Ensembl Gene |
ENSMUSG00000036218 |
Gene Name |
PDZ domain containing RING finger 4 |
Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
MMRRC Submission |
039541-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R1489 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92575593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 333
(L333P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035399]
[ENSMUST00000169942]
|
AlphaFold |
E9PUZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035399
AA Change: L94P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000040456 Gene: ENSMUSG00000036218 AA Change: L94P
Domain | Start | End | E-Value | Type |
Blast:PDZ
|
1 |
56 |
4e-24 |
BLAST |
SCOP:d1qaua_
|
20 |
61 |
1e-3 |
SMART |
PDB:1UHP|A
|
21 |
64 |
9e-12 |
PDB |
PDZ
|
154 |
229 |
3.01e-18 |
SMART |
low complexity region
|
240 |
259 |
N/A |
INTRINSIC |
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
coiled coil region
|
394 |
430 |
N/A |
INTRINSIC |
low complexity region
|
563 |
577 |
N/A |
INTRINSIC |
low complexity region
|
696 |
709 |
N/A |
INTRINSIC |
low complexity region
|
732 |
741 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169942
AA Change: L333P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133159 Gene: ENSMUSG00000036218 AA Change: L333P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229173
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
G |
12: 55,106,295 (GRCm39) |
S143P |
possibly damaging |
Het |
4930522H14Rik |
T |
C |
4: 109,362,654 (GRCm39) |
K218E |
possibly damaging |
Het |
Abcb1a |
T |
A |
5: 8,736,300 (GRCm39) |
|
probably null |
Het |
Adam39 |
A |
G |
8: 41,278,031 (GRCm39) |
T141A |
possibly damaging |
Het |
Adam6b |
T |
A |
12: 113,455,071 (GRCm39) |
S629R |
probably benign |
Het |
Ap3b2 |
C |
A |
7: 81,113,438 (GRCm39) |
E924* |
probably null |
Het |
Armc3 |
A |
T |
2: 19,314,858 (GRCm39) |
Y856F |
probably benign |
Het |
Asap1 |
A |
G |
15: 64,044,579 (GRCm39) |
L142P |
probably damaging |
Het |
Atg9a |
T |
A |
1: 75,162,734 (GRCm39) |
D427V |
probably damaging |
Het |
Atl2 |
G |
A |
17: 80,160,135 (GRCm39) |
A17V |
probably benign |
Het |
Atxn2l |
A |
T |
7: 126,095,639 (GRCm39) |
S379T |
probably damaging |
Het |
C1ql3 |
G |
T |
2: 13,015,453 (GRCm39) |
P69Q |
possibly damaging |
Het |
Cap2 |
A |
T |
13: 46,763,111 (GRCm39) |
I114F |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,096,950 (GRCm39) |
F1383L |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,100,667 (GRCm39) |
I144V |
probably benign |
Het |
Cox16 |
T |
C |
12: 81,521,389 (GRCm39) |
N135S |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,108,234 (GRCm39) |
H180Q |
possibly damaging |
Het |
Dpy19l3 |
A |
T |
7: 35,424,835 (GRCm39) |
Y73* |
probably null |
Het |
Duox2 |
T |
A |
2: 122,123,877 (GRCm39) |
M436L |
probably benign |
Het |
Exoc6 |
T |
A |
19: 37,585,568 (GRCm39) |
M481K |
possibly damaging |
Het |
Fbxw2 |
GCCCCC |
GCCCCCCCC |
2: 34,702,829 (GRCm39) |
|
probably benign |
Het |
Fmn1 |
T |
A |
2: 113,195,557 (GRCm39) |
V419E |
unknown |
Het |
Fndc4 |
T |
C |
5: 31,450,795 (GRCm39) |
*232W |
probably null |
Het |
Foxc1 |
C |
T |
13: 31,992,595 (GRCm39) |
R469* |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,810,155 (GRCm39) |
H2158R |
probably benign |
Het |
Ghdc |
C |
T |
11: 100,659,083 (GRCm39) |
G373D |
probably benign |
Het |
Gm10330 |
A |
T |
12: 23,830,032 (GRCm39) |
S50T |
probably benign |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Lonrf1 |
A |
G |
8: 36,690,108 (GRCm39) |
V650A |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,130,918 (GRCm39) |
V578A |
possibly damaging |
Het |
Mbd3 |
C |
G |
10: 80,229,740 (GRCm39) |
D190H |
probably damaging |
Het |
Mcpt9 |
T |
C |
14: 56,264,976 (GRCm39) |
K175R |
probably benign |
Het |
Mia3 |
A |
G |
1: 183,120,121 (GRCm39) |
S85P |
probably benign |
Het |
Myrip |
T |
C |
9: 120,261,595 (GRCm39) |
F403L |
probably damaging |
Het |
Nox4 |
A |
G |
7: 86,954,097 (GRCm39) |
Y134C |
probably damaging |
Het |
Numb |
A |
G |
12: 83,842,217 (GRCm39) |
L642P |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,099,185 (GRCm39) |
Y568F |
possibly damaging |
Het |
Prl |
A |
T |
13: 27,241,619 (GRCm39) |
S3C |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,047,824 (GRCm39) |
T60A |
possibly damaging |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,205,761 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
G |
1: 174,058,891 (GRCm39) |
E1942G |
probably damaging |
Het |
Tmem38a |
A |
G |
8: 73,333,479 (GRCm39) |
Y66C |
probably damaging |
Het |
Tnnt1 |
A |
T |
7: 4,510,524 (GRCm39) |
Y232* |
probably null |
Het |
Tpte |
T |
C |
8: 22,839,405 (GRCm39) |
|
probably null |
Het |
Virma |
T |
C |
4: 11,521,164 (GRCm39) |
V907A |
probably damaging |
Het |
Vmn1r174 |
C |
T |
7: 23,453,981 (GRCm39) |
Q216* |
probably null |
Het |
Zswim3 |
T |
C |
2: 164,661,901 (GRCm39) |
V127A |
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 |
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 |
|
R7096:Pdzrn4
|
UTSW |
15 |
92,295,384 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AGCTTTTCGAACTGCCAAGGAGCC -3'
(R):5'- AGTCACCTTCCCCTGAGCCTTAATG -3'
Sequencing Primer
(F):5'- CCCATAGTGGTACAGGTGTTAAG -3'
(R):5'- CTGACTAGTAGTCTGAGCCTTGAAG -3'
|
Posted On |
2014-03-28 |