Incidental Mutation 'R8898:Pdzph1'
| ID |
678203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
068755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59281334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 316
(V316D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025064
AA Change: V316D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: V316D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
780 |
844 |
6e-20 |
BLAST |
|
PDZ
|
915 |
984 |
3.31e-15 |
SMART |
|
PH
|
993 |
1096 |
9.4e-19 |
SMART |
|
PH
|
1120 |
1218 |
2.83e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,001 (GRCm39) |
L988* |
probably null |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,106 (GRCm39) |
F36S |
unknown |
Het |
| Acan |
C |
A |
7: 78,750,101 (GRCm39) |
T1624K |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,613,051 (GRCm39) |
|
probably null |
Het |
| Ankrd24 |
T |
C |
10: 81,478,352 (GRCm39) |
I437T |
unknown |
Het |
| Arl4d |
C |
T |
11: 101,557,827 (GRCm39) |
R118W |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,306,721 (GRCm39) |
|
probably benign |
Het |
| Bcan |
T |
C |
3: 87,895,695 (GRCm39) |
T814A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,498 (GRCm39) |
M3171K |
possibly damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,739 (GRCm39) |
S23C |
probably damaging |
Het |
| Chek2 |
A |
T |
5: 111,011,175 (GRCm39) |
K324N |
probably benign |
Het |
| Col12a1 |
C |
T |
9: 79,599,577 (GRCm39) |
V859I |
probably benign |
Het |
| Cyp7b1 |
C |
T |
3: 18,150,788 (GRCm39) |
R317H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,308,941 (GRCm39) |
S1937P |
probably benign |
Het |
| Epb41l1 |
T |
G |
2: 156,335,869 (GRCm39) |
V11G |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,858,822 (GRCm39) |
P3798L |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,596 (GRCm39) |
C157S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,058 (GRCm39) |
Q442R |
probably benign |
Het |
| Gm17019 |
A |
C |
5: 15,081,798 (GRCm39) |
M47R |
possibly damaging |
Het |
| Gpr179 |
C |
A |
11: 97,242,329 (GRCm39) |
E172* |
probably null |
Het |
| Grhl1 |
G |
A |
12: 24,634,945 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
T |
5: 134,226,106 (GRCm39) |
E184V |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,766 (GRCm39) |
I813V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,715,379 (GRCm39) |
L385Q |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,376 (GRCm39) |
T726I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,145,206 (GRCm39) |
S916G |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,935,175 (GRCm39) |
F396I |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,554,899 (GRCm39) |
M633T |
possibly damaging |
Het |
| Klf5 |
T |
A |
14: 99,538,922 (GRCm39) |
F112I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,610 (GRCm39) |
Q2989L |
|
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,859,931 (GRCm39) |
T739A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,355,914 (GRCm39) |
R80* |
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,752,904 (GRCm39) |
E783G |
probably damaging |
Het |
| Mill2 |
A |
T |
7: 18,590,489 (GRCm39) |
M190L |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,535,256 (GRCm39) |
N311S |
probably benign |
Het |
| Nanos2 |
A |
T |
7: 18,721,549 (GRCm39) |
D7V |
probably damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
| Nexn |
T |
C |
3: 151,948,306 (GRCm39) |
N483S |
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,073,288 (GRCm39) |
E185A |
probably damaging |
Het |
| Nop2 |
C |
A |
6: 125,114,118 (GRCm39) |
Q195K |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,192,957 (GRCm39) |
V272A |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,518,952 (GRCm39) |
P253S |
probably damaging |
Het |
| Pde12 |
G |
A |
14: 26,390,577 (GRCm39) |
S44L |
probably benign |
Het |
| Pde1c |
A |
T |
6: 56,114,371 (GRCm39) |
V514E |
probably damaging |
Het |
| Prl3c1 |
A |
T |
13: 27,387,578 (GRCm39) |
I208F |
possibly damaging |
Het |
| Raver2 |
G |
A |
4: 100,964,399 (GRCm39) |
|
probably null |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,018,747 (GRCm39) |
H143L |
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,760,642 (GRCm39) |
I402K |
possibly damaging |
Het |
| Sla2 |
T |
A |
2: 156,717,885 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Smarca2 |
TGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCA |
19: 26,608,358 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,911,567 (GRCm39) |
S1448P |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,695,273 (GRCm39) |
R604H |
probably damaging |
Het |
| Speg |
G |
A |
1: 75,365,517 (GRCm39) |
G633S |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Syt11 |
T |
C |
3: 88,669,335 (GRCm39) |
M186V |
probably benign |
Het |
| Tex26 |
C |
A |
5: 149,380,369 (GRCm39) |
N133K |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,910 (GRCm39) |
C32R |
probably damaging |
Het |
| Trem1 |
T |
A |
17: 48,544,374 (GRCm39) |
V133E |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,661 (GRCm39) |
M906K |
possibly damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,159,189 (GRCm39) |
I461K |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,430 (GRCm39) |
C28S |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pdzph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Pdzph1
|
APN |
17 |
59,281,791 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL00644:Pdzph1
|
APN |
17 |
59,195,105 (GRCm39) |
missense |
probably benign |
|
|
IGL01413:Pdzph1
|
APN |
17 |
59,186,147 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01530:Pdzph1
|
APN |
17 |
59,229,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Pdzph1
|
APN |
17 |
59,274,334 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02201:Pdzph1
|
APN |
17 |
59,274,506 (GRCm39) |
splice site |
probably benign |
|
|
IGL02548:Pdzph1
|
APN |
17 |
59,280,386 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02618:Pdzph1
|
APN |
17 |
59,186,068 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02660:Pdzph1
|
APN |
17 |
59,187,642 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02749:Pdzph1
|
APN |
17 |
59,239,478 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02876:Pdzph1
|
APN |
17 |
59,281,064 (GRCm39) |
missense |
probably benign |
|
|
IGL03304:Pdzph1
|
APN |
17 |
59,187,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03336:Pdzph1
|
APN |
17 |
59,281,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0008:Pdzph1
|
UTSW |
17 |
59,229,756 (GRCm39) |
splice site |
probably benign |
|
|
R0008:Pdzph1
|
UTSW |
17 |
59,229,756 (GRCm39) |
splice site |
probably benign |
|
|
R0498:Pdzph1
|
UTSW |
17 |
59,280,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0553:Pdzph1
|
UTSW |
17 |
59,229,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Pdzph1
|
UTSW |
17 |
59,261,474 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1306:Pdzph1
|
UTSW |
17 |
59,239,427 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1370:Pdzph1
|
UTSW |
17 |
59,281,082 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1382:Pdzph1
|
UTSW |
17 |
59,281,742 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1463:Pdzph1
|
UTSW |
17 |
59,239,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Pdzph1
|
UTSW |
17 |
59,280,747 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1773:Pdzph1
|
UTSW |
17 |
59,281,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1862:Pdzph1
|
UTSW |
17 |
59,229,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Pdzph1
|
UTSW |
17 |
59,281,092 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2071:Pdzph1
|
UTSW |
17 |
59,281,092 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2229:Pdzph1
|
UTSW |
17 |
59,239,407 (GRCm39) |
splice site |
probably benign |
|
|
R2264:Pdzph1
|
UTSW |
17 |
59,195,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2334:Pdzph1
|
UTSW |
17 |
59,229,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3750:Pdzph1
|
UTSW |
17 |
59,280,331 (GRCm39) |
nonsense |
probably null |
|
|
R4700:Pdzph1
|
UTSW |
17 |
59,281,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4847:Pdzph1
|
UTSW |
17 |
59,280,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4868:Pdzph1
|
UTSW |
17 |
59,281,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5130:Pdzph1
|
UTSW |
17 |
59,229,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Pdzph1
|
UTSW |
17 |
59,281,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Pdzph1
|
UTSW |
17 |
59,280,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5770:Pdzph1
|
UTSW |
17 |
59,186,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5795:Pdzph1
|
UTSW |
17 |
59,192,862 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5842:Pdzph1
|
UTSW |
17 |
59,281,407 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5851:Pdzph1
|
UTSW |
17 |
59,280,741 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6158:Pdzph1
|
UTSW |
17 |
59,280,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6813:Pdzph1
|
UTSW |
17 |
59,281,431 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7022:Pdzph1
|
UTSW |
17 |
59,281,121 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7395:Pdzph1
|
UTSW |
17 |
59,186,154 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7525:Pdzph1
|
UTSW |
17 |
59,274,336 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7944:Pdzph1
|
UTSW |
17 |
59,239,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7945:Pdzph1
|
UTSW |
17 |
59,239,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Pdzph1
|
UTSW |
17 |
59,186,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8016:Pdzph1
|
UTSW |
17 |
59,239,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8116:Pdzph1
|
UTSW |
17 |
59,282,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8273:Pdzph1
|
UTSW |
17 |
59,280,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8523:Pdzph1
|
UTSW |
17 |
59,191,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Pdzph1
|
UTSW |
17 |
59,187,715 (GRCm39) |
nonsense |
probably null |
|
|
R8820:Pdzph1
|
UTSW |
17 |
59,187,715 (GRCm39) |
nonsense |
probably null |
|
|
R8839:Pdzph1
|
UTSW |
17 |
59,257,237 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8871:Pdzph1
|
UTSW |
17 |
59,195,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8959:Pdzph1
|
UTSW |
17 |
59,281,599 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9043:Pdzph1
|
UTSW |
17 |
59,280,535 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9083:Pdzph1
|
UTSW |
17 |
59,261,395 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9092:Pdzph1
|
UTSW |
17 |
59,280,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Pdzph1
|
UTSW |
17 |
59,257,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9757:Pdzph1
|
UTSW |
17 |
59,281,898 (GRCm39) |
nonsense |
probably null |
|
|
R9774:Pdzph1
|
UTSW |
17 |
59,281,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0028:Pdzph1
|
UTSW |
17 |
59,186,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGTGATATTTTCCCTGACATC -3'
(R):5'- GAAGAGGCCCCTTGAAACAC -3'
Sequencing Primer
(F):5'- AAACTCGTGGTCCTTAAGGTTTCAG -3'
(R):5'- CACCACGGATGAACCCTGTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation