Incidental Mutation 'IGL02729:Pdzd7'
| ID |
305389 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzd7
|
| Ensembl Gene |
ENSMUSG00000074818 |
| Gene Name |
PDZ domain containing 7 |
| Synonyms |
EG435601, Pdzk7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
IGL02729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45015345-45034156 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 45034082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062213]
[ENSMUST00000084493]
[ENSMUST00000111954]
[ENSMUST00000145391]
[ENSMUST00000169459]
|
| AlphaFold |
E9Q9W7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062213
|
| SMART Domains |
Protein: ENSMUSP00000059419
Gene: ENSMUSG00000025212
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mtc
|
15 |
321 |
1.8e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084493
|
| SMART Domains |
Protein: ENSMUSP00000081537
Gene: ENSMUSG00000025212
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mtc
|
15 |
230 |
2.5e-106 |
PFAM |
|
Pfam:Mtc
|
225 |
280 |
2.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111954
|
| SMART Domains |
Protein: ENSMUSP00000107585
Gene: ENSMUSG00000025212
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mtc
|
15 |
114 |
1.4e-48 |
PFAM |
|
Pfam:Mtc
|
110 |
288 |
2.3e-78 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145391
AA Change: M1V
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
35 |
N/A |
INTRINSIC |
|
PDZ
|
95 |
167 |
3.51e-19 |
SMART |
|
PDZ
|
220 |
292 |
2.47e-14 |
SMART |
|
low complexity region
|
319 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
PDZ
|
866 |
947 |
1.96e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169459
AA Change: M1V
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
35 |
N/A |
INTRINSIC |
|
PDZ
|
95 |
167 |
3.51e-19 |
SMART |
|
PDZ
|
220 |
292 |
2.47e-14 |
SMART |
|
low complexity region
|
319 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
PDZ
|
866 |
947 |
1.96e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,499,455 (GRCm39) |
E1358G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,721 (GRCm39) |
L427F |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,283 (GRCm39) |
T326A |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,595 (GRCm39) |
H235L |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,829,250 (GRCm39) |
D512G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,787,946 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,637 (GRCm39) |
D612G |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,694 (GRCm39) |
Y209S |
probably damaging |
Het |
| Irf4 |
T |
C |
13: 30,937,574 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,009,029 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
C |
T |
17: 68,791,738 (GRCm39) |
T272I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,848,924 (GRCm39) |
I2037T |
possibly damaging |
Het |
| Lyst |
C |
A |
13: 13,921,194 (GRCm39) |
P3380Q |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,742,795 (GRCm39) |
D604E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,467,609 (GRCm39) |
S745C |
probably damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,439 (GRCm39) |
N43K |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,892 (GRCm39) |
F31S |
probably damaging |
Het |
| Or6c212 |
T |
G |
10: 129,559,390 (GRCm39) |
I8L |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,263,823 (GRCm39) |
H276Q |
probably benign |
Het |
| Pdx1 |
C |
A |
5: 147,211,424 (GRCm39) |
P215Q |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,098,770 (GRCm39) |
M621K |
probably damaging |
Het |
| Ptprh |
T |
G |
7: 4,583,873 (GRCm39) |
N240H |
probably damaging |
Het |
| Rsph1 |
T |
A |
17: 31,492,293 (GRCm39) |
E91V |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,129,994 (GRCm39) |
C1274R |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,058,581 (GRCm39) |
P1179S |
possibly damaging |
Het |
| Skint7 |
C |
A |
4: 111,839,367 (GRCm39) |
F220L |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,591,773 (GRCm39) |
Y1283F |
probably damaging |
Het |
| Taf1b |
A |
G |
12: 24,597,624 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,596,554 (GRCm39) |
|
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,994,555 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,397,285 (GRCm39) |
V3I |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,193,143 (GRCm39) |
H766L |
probably damaging |
Het |
| Zfyve21 |
A |
G |
12: 111,791,485 (GRCm39) |
I157V |
probably benign |
Het |
|
| Other mutations in Pdzd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02237:Pdzd7
|
APN |
19 |
45,028,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F6893:Pdzd7
|
UTSW |
19 |
45,025,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0211:Pdzd7
|
UTSW |
19 |
45,022,106 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0211:Pdzd7
|
UTSW |
19 |
45,022,106 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0295:Pdzd7
|
UTSW |
19 |
45,025,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0523:Pdzd7
|
UTSW |
19 |
45,024,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0645:Pdzd7
|
UTSW |
19 |
45,033,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0731:Pdzd7
|
UTSW |
19 |
45,017,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1265:Pdzd7
|
UTSW |
19 |
45,029,124 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1711:Pdzd7
|
UTSW |
19 |
45,033,950 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1789:Pdzd7
|
UTSW |
19 |
45,027,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Pdzd7
|
UTSW |
19 |
45,024,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2162:Pdzd7
|
UTSW |
19 |
45,024,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2851:Pdzd7
|
UTSW |
19 |
45,016,113 (GRCm39) |
missense |
probably benign |
|
|
R2852:Pdzd7
|
UTSW |
19 |
45,016,113 (GRCm39) |
missense |
probably benign |
|
|
R2939:Pdzd7
|
UTSW |
19 |
45,033,862 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3832:Pdzd7
|
UTSW |
19 |
45,028,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Pdzd7
|
UTSW |
19 |
45,034,067 (GRCm39) |
missense |
probably benign |
|
|
R4416:Pdzd7
|
UTSW |
19 |
45,029,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Pdzd7
|
UTSW |
19 |
45,034,126 (GRCm39) |
start gained |
probably benign |
|
|
R5133:Pdzd7
|
UTSW |
19 |
45,016,868 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5327:Pdzd7
|
UTSW |
19 |
45,017,216 (GRCm39) |
missense |
probably benign |
|
|
R5458:Pdzd7
|
UTSW |
19 |
45,016,230 (GRCm39) |
missense |
probably benign |
|
|
R5480:Pdzd7
|
UTSW |
19 |
45,027,724 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5644:Pdzd7
|
UTSW |
19 |
45,028,619 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5799:Pdzd7
|
UTSW |
19 |
45,025,428 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5812:Pdzd7
|
UTSW |
19 |
45,025,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Pdzd7
|
UTSW |
19 |
45,016,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Pdzd7
|
UTSW |
19 |
45,025,190 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6750:Pdzd7
|
UTSW |
19 |
45,016,187 (GRCm39) |
missense |
probably benign |
|
|
R7128:Pdzd7
|
UTSW |
19 |
45,016,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7183:Pdzd7
|
UTSW |
19 |
45,025,553 (GRCm39) |
missense |
probably benign |
|
|
R7378:Pdzd7
|
UTSW |
19 |
45,034,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7395:Pdzd7
|
UTSW |
19 |
45,025,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Pdzd7
|
UTSW |
19 |
45,022,086 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7790:Pdzd7
|
UTSW |
19 |
45,033,962 (GRCm39) |
nonsense |
probably null |
|
|
R7792:Pdzd7
|
UTSW |
19 |
45,028,657 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7829:Pdzd7
|
UTSW |
19 |
45,027,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7883:Pdzd7
|
UTSW |
19 |
45,018,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Pdzd7
|
UTSW |
19 |
45,024,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8387:Pdzd7
|
UTSW |
19 |
45,018,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8720:Pdzd7
|
UTSW |
19 |
45,024,667 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8830:Pdzd7
|
UTSW |
19 |
45,021,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Pdzd7
|
UTSW |
19 |
45,028,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9417:Pdzd7
|
UTSW |
19 |
45,034,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Pdzd7
|
UTSW |
19 |
45,016,056 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation