Incidental Mutation 'R9558:Pdzrn4'
ID |
720883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzrn4
|
Ensembl Gene |
ENSMUSG00000036218 |
Gene Name |
PDZ domain containing RING finger 4 |
Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R9558 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92299877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 249
(D249G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169942]
|
AlphaFold |
E9PUZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169942
AA Change: D249G
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133159 Gene: ENSMUSG00000036218 AA Change: D249G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
T |
10: 76,290,576 (GRCm39) |
P126L |
probably damaging |
Het |
Adh7 |
T |
A |
3: 137,932,043 (GRCm39) |
I219N |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,889,521 (GRCm39) |
S467G |
probably benign |
Het |
Atm |
T |
C |
9: 53,412,081 (GRCm39) |
I992V |
probably benign |
Het |
Bdnf |
T |
C |
2: 109,539,999 (GRCm39) |
V31A |
|
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Ccnk |
A |
T |
12: 108,155,397 (GRCm39) |
K118I |
possibly damaging |
Het |
Ccr2 |
T |
A |
9: 123,906,104 (GRCm39) |
V128E |
possibly damaging |
Het |
Cd163 |
C |
A |
6: 124,297,471 (GRCm39) |
N872K |
probably benign |
Het |
Cd38 |
A |
G |
5: 44,057,792 (GRCm39) |
I121M |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,671,157 (GRCm39) |
|
probably null |
Het |
Cyp11b1 |
T |
C |
15: 74,710,789 (GRCm39) |
E257G |
probably benign |
Het |
Cyp2d40 |
T |
C |
15: 82,645,667 (GRCm39) |
T113A |
unknown |
Het |
Ddx23 |
A |
G |
15: 98,545,433 (GRCm39) |
V625A |
possibly damaging |
Het |
Dnaaf9 |
T |
C |
2: 130,617,660 (GRCm39) |
N433D |
probably damaging |
Het |
Fbxw17 |
T |
C |
13: 50,577,311 (GRCm39) |
Y68H |
probably damaging |
Het |
Fignl1 |
C |
T |
11: 11,751,778 (GRCm39) |
V426I |
possibly damaging |
Het |
Ggn |
C |
G |
7: 28,871,973 (GRCm39) |
P487R |
probably damaging |
Het |
Gjb6 |
G |
A |
14: 57,362,261 (GRCm39) |
|
probably benign |
Het |
Gm5930 |
A |
G |
14: 44,576,014 (GRCm39) |
F2L |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,162,422 (GRCm39) |
E355G |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,944,969 (GRCm39) |
H563Q |
possibly damaging |
Het |
Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
Lama1 |
A |
G |
17: 68,124,004 (GRCm39) |
T2810A |
|
Het |
Ltn1 |
A |
T |
16: 87,220,295 (GRCm39) |
S267R |
probably benign |
Het |
Mapre2 |
T |
A |
18: 23,991,195 (GRCm39) |
H196Q |
possibly damaging |
Het |
Mfap4 |
A |
C |
11: 61,376,965 (GRCm39) |
S65R |
probably benign |
Het |
Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
Myh1 |
C |
G |
11: 67,108,618 (GRCm39) |
H1345D |
possibly damaging |
Het |
Myh3 |
T |
A |
11: 66,983,316 (GRCm39) |
C948S |
possibly damaging |
Het |
Ndufa8 |
A |
G |
2: 35,926,605 (GRCm39) |
S144P |
probably benign |
Het |
Nudc |
G |
A |
4: 133,260,776 (GRCm39) |
R257C |
probably benign |
Het |
Nufip1 |
A |
G |
14: 76,348,481 (GRCm39) |
M37V |
probably benign |
Het |
Ogn |
A |
G |
13: 49,764,783 (GRCm39) |
E61G |
probably benign |
Het |
Or52n5 |
T |
C |
7: 104,588,615 (GRCm39) |
V294A |
possibly damaging |
Het |
Pcdh8 |
A |
G |
14: 80,006,380 (GRCm39) |
S728P |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Setd2 |
C |
T |
9: 110,376,628 (GRCm39) |
H148Y |
probably damaging |
Het |
Smok2b |
G |
A |
17: 13,453,884 (GRCm39) |
G15R |
probably damaging |
Het |
Sun1 |
A |
G |
5: 139,211,019 (GRCm39) |
T91A |
probably benign |
Het |
Tbc1d31 |
G |
A |
15: 57,795,988 (GRCm39) |
A194T |
probably damaging |
Het |
Tiparp |
C |
T |
3: 65,438,852 (GRCm39) |
S56F |
possibly damaging |
Het |
Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
Trip6 |
A |
G |
5: 137,309,075 (GRCm39) |
S344P |
probably benign |
Het |
Ube2q1 |
A |
G |
3: 89,686,766 (GRCm39) |
K207E |
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,262,843 (GRCm39) |
V1256A |
probably benign |
Het |
Vmn1r69 |
T |
A |
7: 10,314,185 (GRCm39) |
Y182F |
probably benign |
Het |
Wipf1 |
C |
A |
2: 73,268,020 (GRCm39) |
R126L |
probably damaging |
Het |
Zc3hav1 |
T |
C |
6: 38,331,042 (GRCm39) |
E39G |
possibly damaging |
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 |
|
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 |
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'- GCTGGACTCGCTCATTACAG -3'
(R):5'- AAACATCAGTTTCTCCACTGCC -3'
Sequencing Primer
(F):5'- CCAAGTTCTCAGCTAAGAGAGTTGC -3'
(R):5'- CACTGCCATGAGATTTATACTCTG -3'
|
Posted On |
2022-08-09 |