Incidental Mutation 'R5444:Pdzrn4'
ID |
427363 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzrn4
|
Ensembl Gene |
ENSMUSG00000036218 |
Gene Name |
PDZ domain containing RING finger 4 |
Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
MMRRC Submission |
043009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R5444 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92668806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 747
(M747K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035399]
[ENSMUST00000169942]
|
AlphaFold |
E9PUZ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035399
AA Change: M747K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040456 Gene: ENSMUSG00000036218 AA Change: M747K
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 damaging
Transcript: ENSMUST00000169942
AA Change: M986K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133159 Gene: ENSMUSG00000036218 AA Change: M986K
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 |
0.3907 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
A |
G |
5: 26,684,735 (GRCm39) |
|
noncoding transcript |
Het |
Adam11 |
A |
G |
11: 102,663,674 (GRCm39) |
Q284R |
probably damaging |
Het |
Adamts17 |
T |
A |
7: 66,691,647 (GRCm39) |
H610Q |
probably benign |
Het |
Alg6 |
A |
G |
4: 99,629,816 (GRCm39) |
Y131C |
probably benign |
Het |
Apol9b |
T |
C |
15: 77,619,963 (GRCm39) |
I253T |
probably damaging |
Het |
Asb4 |
T |
A |
6: 5,431,040 (GRCm39) |
I425N |
probably damaging |
Het |
Atic |
T |
C |
1: 71,615,876 (GRCm39) |
L474P |
probably damaging |
Het |
B3glct |
C |
T |
5: 149,669,985 (GRCm39) |
T318I |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,666,199 (GRCm39) |
K22E |
possibly damaging |
Het |
Cdk17 |
T |
G |
10: 93,053,823 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
A |
7: 83,631,499 (GRCm39) |
T438S |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,122,833 (GRCm39) |
E967G |
probably damaging |
Het |
Cyp2d26 |
G |
T |
15: 82,676,739 (GRCm39) |
D202E |
probably benign |
Het |
Dhdds |
G |
A |
4: 133,698,447 (GRCm39) |
R295* |
probably null |
Het |
Eef2kmt |
G |
A |
16: 5,066,959 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
G |
A |
11: 121,312,430 (GRCm39) |
|
probably null |
Het |
Gjc3 |
G |
A |
5: 137,955,809 (GRCm39) |
L159F |
probably damaging |
Het |
Gm28434 |
T |
C |
5: 88,127,147 (GRCm39) |
|
probably benign |
Het |
Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
Irf7 |
C |
T |
7: 140,844,732 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,201,573 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
T |
1: 15,781,716 (GRCm39) |
I863F |
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,348,908 (GRCm39) |
F647L |
possibly damaging |
Het |
Mccc1 |
T |
A |
3: 36,030,891 (GRCm39) |
M392L |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,938,149 (GRCm39) |
|
probably null |
Het |
Ncstn |
A |
C |
1: 171,900,406 (GRCm39) |
V223G |
possibly damaging |
Het |
Neurl3 |
G |
T |
1: 36,308,571 (GRCm39) |
F80L |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,334,785 (GRCm39) |
M869T |
possibly damaging |
Het |
Nfatc2 |
A |
G |
2: 168,376,810 (GRCm39) |
|
probably benign |
Het |
Nnat |
T |
C |
2: 157,403,137 (GRCm39) |
F26S |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,202,820 (GRCm39) |
Y109C |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,166,124 (GRCm39) |
D194E |
probably damaging |
Het |
Or10ak11 |
T |
A |
4: 118,687,308 (GRCm39) |
I109L |
probably benign |
Het |
Or3a4 |
T |
C |
11: 73,944,803 (GRCm39) |
S261G |
probably benign |
Het |
Or52k2 |
C |
T |
7: 102,254,076 (GRCm39) |
R172* |
probably null |
Het |
Or5b109 |
A |
T |
19: 13,212,322 (GRCm39) |
Q236L |
probably benign |
Het |
Or9g3 |
A |
T |
2: 85,590,263 (GRCm39) |
F152L |
probably benign |
Het |
Ostf1 |
A |
G |
19: 18,558,677 (GRCm39) |
L202S |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,935,521 (GRCm39) |
D1019G |
probably benign |
Het |
Pnlip |
A |
G |
19: 58,661,595 (GRCm39) |
I95V |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,805,122 (GRCm39) |
T197S |
probably benign |
Het |
Rasgrp3 |
A |
T |
17: 75,810,370 (GRCm39) |
I357F |
probably damaging |
Het |
Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
Relch |
C |
T |
1: 105,654,109 (GRCm39) |
T826I |
possibly damaging |
Het |
Rgs22 |
T |
C |
15: 36,015,773 (GRCm39) |
D1037G |
possibly damaging |
Het |
Rnf215 |
A |
G |
11: 4,085,843 (GRCm39) |
I107M |
probably benign |
Het |
Rybp |
A |
T |
6: 100,264,231 (GRCm39) |
M3K |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,379,590 (GRCm39) |
S1081G |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,113 (GRCm39) |
|
noncoding transcript |
Het |
Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
Sult2a1 |
A |
T |
7: 13,569,944 (GRCm39) |
I96K |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
Thbs3 |
T |
C |
3: 89,130,692 (GRCm39) |
|
probably benign |
Het |
Tmub2 |
T |
C |
11: 102,179,066 (GRCm39) |
L255S |
possibly damaging |
Het |
Trank1 |
T |
A |
9: 111,222,026 (GRCm39) |
L2921Q |
probably benign |
Het |
Trappc14 |
A |
T |
5: 138,259,260 (GRCm39) |
|
probably null |
Het |
Tuba8 |
A |
T |
6: 121,203,060 (GRCm39) |
|
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,451 (GRCm39) |
I469V |
probably benign |
Het |
Zfp1007 |
A |
T |
5: 109,823,502 (GRCm39) |
Y649* |
probably null |
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 |
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'- AGAAAGCAACACCTGGTCCG -3'
(R):5'- GCCAAAGAAGGTACCAGCCTATG -3'
Sequencing Primer
(F):5'- TCCGGGCCAAGGAGCAAAG -3'
(R):5'- TATGGACCCTAGTGCCAT -3'
|
Posted On |
2016-09-01 |