Incidental Mutation 'R8075:Pdzrn4'
| ID |
628988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzrn4
|
| Ensembl Gene |
ENSMUSG00000036218 |
| Gene Name |
PDZ domain containing RING finger 4 |
| Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
| MMRRC Submission |
067509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R8075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92575605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 337
(V337A)
|
| 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: V98A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: V98A
| 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: V337A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: V337A
| 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: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,790,148 (GRCm39) |
H69Q |
probably benign |
Het |
| Aif1 |
T |
A |
17: 35,390,811 (GRCm39) |
N87Y |
unknown |
Het |
| Caprin2 |
A |
T |
6: 148,770,590 (GRCm39) |
V468E |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,335 (GRCm39) |
V559D |
probably benign |
Het |
| Chrna4 |
A |
C |
2: 180,680,859 (GRCm39) |
I3S |
unknown |
Het |
| Cog3 |
T |
C |
14: 75,968,142 (GRCm39) |
Y407C |
probably damaging |
Het |
| Col15a1 |
A |
G |
4: 47,208,359 (GRCm39) |
H3R |
probably benign |
Het |
| Ctxn1 |
A |
G |
8: 4,308,553 (GRCm39) |
V26A |
probably benign |
Het |
| Cyp27b1 |
A |
C |
10: 126,887,382 (GRCm39) |
T405P |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,682 (GRCm39) |
I181V |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,810 (GRCm39) |
S269T |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,851,824 (GRCm39) |
D351E |
probably damaging |
Het |
| Fam181a |
A |
T |
12: 103,282,296 (GRCm39) |
H67L |
possibly damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,871,861 (GRCm39) |
L458P |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,913,048 (GRCm38) |
I1439T |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,815,055 (GRCm39) |
Q364* |
probably null |
Het |
| Gm3138 |
A |
T |
14: 4,250,532 (GRCm38) |
N55Y |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,403 (GRCm39) |
T1802A |
possibly damaging |
Het |
| Hoxc6 |
T |
C |
15: 102,919,325 (GRCm39) |
I187T |
probably damaging |
Het |
| Ighg3 |
T |
A |
12: 113,321,097 (GRCm39) |
I387F |
|
Het |
| Insr |
A |
T |
8: 3,205,862 (GRCm39) |
M1309K |
probably benign |
Het |
| Itsn1 |
A |
T |
16: 91,686,097 (GRCm39) |
N1290I |
unknown |
Het |
| Jag2 |
C |
A |
12: 112,878,894 (GRCm39) |
R509L |
probably benign |
Het |
| Kctd11 |
T |
A |
11: 69,771,095 (GRCm39) |
|
probably benign |
Het |
| Med13 |
C |
A |
11: 86,163,296 (GRCm39) |
V2126F |
probably damaging |
Het |
| Mknk2 |
G |
A |
10: 80,507,982 (GRCm39) |
|
probably benign |
Het |
| Oga |
A |
T |
19: 45,749,621 (GRCm39) |
N699K |
probably damaging |
Het |
| Or52l1 |
T |
G |
7: 104,830,343 (GRCm39) |
H74P |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,470 (GRCm39) |
N286S |
probably benign |
Het |
| Pik3c3 |
A |
G |
18: 30,438,082 (GRCm39) |
N491D |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,257,274 (GRCm39) |
S96T |
unknown |
Het |
| Rab37 |
G |
T |
11: 114,982,759 (GRCm39) |
|
probably null |
Het |
| Rp9 |
G |
A |
9: 22,368,788 (GRCm39) |
T57M |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,851,713 (GRCm39) |
V1274A |
probably damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,298,519 (GRCm39) |
V57M |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc39a14 |
A |
T |
14: 70,546,247 (GRCm39) |
I392N |
possibly damaging |
Het |
| Sowahb |
G |
A |
5: 93,192,276 (GRCm39) |
Q148* |
probably null |
Het |
| Spon1 |
T |
C |
7: 113,616,026 (GRCm39) |
|
probably null |
Het |
| Susd4 |
C |
A |
1: 182,592,748 (GRCm39) |
T48K |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,154 (GRCm39) |
N95K |
probably benign |
Het |
| Tle3 |
T |
C |
9: 61,281,841 (GRCm39) |
M57T |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,985,852 (GRCm39) |
M815K |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,340,644 (GRCm39) |
D796G |
probably damaging |
Het |
| Wnk1 |
C |
T |
6: 119,909,675 (GRCm39) |
G41S |
probably damaging |
Het |
| Zfp867 |
A |
G |
11: 59,355,066 (GRCm39) |
S88P |
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 |
|
|
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 |
|
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'- TTTCGAACTGCCAAGGAGCC -3'
(R):5'- GCTAGTTGTATAGCCAAGAGGG -3'
Sequencing Primer
(F):5'- CCCATAGTGGTACAGGTGTTAAGGC -3'
(R):5'- GCTGAGAACTAATTGAAAGCACAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation