Incidental Mutation 'R9796:Pdzrn4'
ID |
734965 |
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 # |
R9796 (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 A
at 92578353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 359
(F359I)
|
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: F120I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000040456 Gene: ENSMUSG00000036218 AA Change: F120I
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 |
possibly damaging
Transcript: ENSMUST00000169942
AA Change: F359I
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133159 Gene: ENSMUSG00000036218 AA Change: F359I
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
C |
T |
10: 29,101,349 (GRCm39) |
T574I |
possibly damaging |
Het |
Aadac |
T |
G |
3: 59,945,882 (GRCm39) |
V184G |
probably damaging |
Het |
Adam6b |
G |
A |
12: 113,454,272 (GRCm39) |
C363Y |
probably damaging |
Het |
Adamts8 |
T |
A |
9: 30,862,569 (GRCm39) |
I258N |
probably damaging |
Het |
Adarb2 |
C |
T |
13: 8,619,852 (GRCm39) |
L113F |
probably damaging |
Het |
Aff4 |
A |
G |
11: 53,302,824 (GRCm39) |
N1099S |
probably damaging |
Het |
Alg10b |
G |
T |
15: 90,108,728 (GRCm39) |
A30S |
possibly damaging |
Het |
Als2 |
T |
A |
1: 59,209,601 (GRCm39) |
E1460D |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,608,801 (GRCm39) |
R1515* |
probably null |
Het |
Asxl2 |
C |
T |
12: 3,546,508 (GRCm39) |
P431S |
probably benign |
Het |
AU018091 |
A |
T |
7: 3,213,785 (GRCm39) |
V153D |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,459,169 (GRCm39) |
V80A |
probably benign |
Het |
Cdc16 |
G |
T |
8: 13,807,693 (GRCm39) |
|
probably benign |
Het |
Cdk14 |
A |
G |
5: 5,316,012 (GRCm39) |
S4P |
probably benign |
Het |
Ctu2 |
A |
T |
8: 123,202,989 (GRCm39) |
Y8F |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,342,537 (GRCm39) |
F1294L |
probably damaging |
Het |
Epha7 |
A |
G |
4: 28,817,457 (GRCm39) |
D37G |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,278 (GRCm39) |
N325I |
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,158,941 (GRCm39) |
M2275L |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,674,055 (GRCm39) |
K9E |
possibly damaging |
Het |
Gm3696 |
T |
C |
14: 18,435,140 (GRCm39) |
N48S |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,538,233 (GRCm39) |
E1082G |
possibly damaging |
Het |
Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
Hrh2 |
C |
T |
13: 54,375,241 (GRCm39) |
T359I |
probably benign |
Het |
Ifi44l |
A |
G |
3: 151,468,419 (GRCm39) |
V37A |
|
Het |
Igfn1 |
C |
A |
1: 135,897,611 (GRCm39) |
W985L |
probably benign |
Het |
Il22b |
A |
G |
10: 118,130,081 (GRCm39) |
S108P |
probably benign |
Het |
Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
Klk1 |
T |
C |
7: 43,877,965 (GRCm39) |
W74R |
possibly damaging |
Het |
Lmntd2 |
A |
T |
7: 140,793,597 (GRCm39) |
N96K |
possibly damaging |
Het |
Lrch4 |
A |
G |
5: 137,635,269 (GRCm39) |
H253R |
probably damaging |
Het |
Lrrc8d |
A |
T |
5: 105,959,917 (GRCm39) |
D109V |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,928,291 (GRCm39) |
T1004A |
probably benign |
Het |
Mapk10 |
A |
G |
5: 103,135,101 (GRCm39) |
V287A |
possibly damaging |
Het |
Mtss2 |
G |
A |
8: 111,456,753 (GRCm39) |
|
probably null |
Het |
Mybpc1 |
T |
C |
10: 88,406,497 (GRCm39) |
I116V |
possibly damaging |
Het |
Mylk4 |
T |
A |
13: 32,900,643 (GRCm39) |
M296L |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,527,969 (GRCm39) |
F2238S |
probably damaging |
Het |
Or11g26 |
G |
T |
14: 50,753,229 (GRCm39) |
L189F |
probably damaging |
Het |
Pax6 |
T |
C |
2: 105,522,541 (GRCm39) |
F243L |
probably damaging |
Het |
Pcdhb22 |
G |
A |
18: 37,652,404 (GRCm39) |
E34K |
possibly damaging |
Het |
Prkn |
A |
T |
17: 11,456,554 (GRCm39) |
D126V |
possibly damaging |
Het |
Rnf168 |
C |
T |
16: 32,117,872 (GRCm39) |
R478C |
probably damaging |
Het |
Sh3gl2 |
G |
A |
4: 85,295,765 (GRCm39) |
V156I |
possibly damaging |
Het |
Taf2 |
A |
T |
15: 54,910,832 (GRCm39) |
M614K |
probably damaging |
Het |
Tbc1d31 |
G |
A |
15: 57,833,179 (GRCm39) |
V973M |
probably damaging |
Het |
Tmem131l |
T |
G |
3: 83,829,402 (GRCm39) |
K1085T |
probably damaging |
Het |
Tpst1 |
A |
G |
5: 130,163,300 (GRCm39) |
T366A |
probably benign |
Het |
Unc50 |
A |
G |
1: 37,471,679 (GRCm39) |
T110A |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,785,172 (GRCm39) |
H128R |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,631,828 (GRCm39) |
N2602K |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,854,505 (GRCm39) |
|
probably null |
Het |
Vps50 |
A |
G |
6: 3,562,300 (GRCm39) |
E465G |
probably 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 |
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 |
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'- TCAGAATTGAGGGGCTTCACC -3'
(R):5'- TGATAGACGAATAACCAATGCCAAG -3'
Sequencing Primer
(F):5'- TTCACCCATGAAGAGAAAGGAAAGC -3'
(R):5'- TGCCAAGCTACTCAAAAGATCTTATC -3'
|
Posted On |
2022-11-14 |