Incidental Mutation 'R4847:Pdzph1'
| ID |
373344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
042460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4847 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59280525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 586
(S586P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025064
AA Change: S586P
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: S586P
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
C |
T |
11: 80,264,940 (GRCm39) |
V171M |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,647,786 (GRCm39) |
S328P |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,625 (GRCm39) |
K54N |
possibly damaging |
Het |
| Amacr |
C |
T |
15: 10,994,958 (GRCm39) |
Q257* |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,331,087 (GRCm39) |
D309E |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,033,266 (GRCm39) |
T600A |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,608,287 (GRCm39) |
E586G |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,994,901 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
A |
11: 118,300,936 (GRCm39) |
Q240* |
probably null |
Het |
| Cep152 |
T |
C |
2: 125,460,394 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Cep76 |
C |
A |
18: 67,752,639 (GRCm39) |
R603I |
probably benign |
Het |
| Chad |
T |
C |
11: 94,459,153 (GRCm39) |
S352P |
probably benign |
Het |
| Ckap2 |
T |
C |
8: 22,665,084 (GRCm39) |
E460G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,671,348 (GRCm39) |
Y1004C |
unknown |
Het |
| Col9a3 |
G |
A |
2: 180,257,318 (GRCm39) |
G480S |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,963,561 (GRCm39) |
D430G |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,204,063 (GRCm39) |
D305G |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,452,396 (GRCm39) |
E76* |
probably null |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,549,340 (GRCm39) |
N286I |
probably damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,796 (GRCm39) |
E174G |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,677 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,120,911 (GRCm39) |
H636L |
probably damaging |
Het |
| Epha1 |
T |
A |
6: 42,338,848 (GRCm39) |
D687V |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,721,959 (GRCm39) |
W132R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,692,851 (GRCm39) |
D170V |
possibly damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,014,173 (GRCm39) |
S96P |
probably damaging |
Het |
| Gfy |
G |
A |
7: 44,827,020 (GRCm39) |
P359S |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,767 (GRCm39) |
N273S |
probably benign |
Het |
| Hr |
A |
T |
14: 70,793,916 (GRCm39) |
T59S |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,808,058 (GRCm39) |
N151K |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,441,870 (GRCm39) |
Y166C |
probably damaging |
Het |
| Impdh2 |
T |
A |
9: 108,442,714 (GRCm39) |
F514Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
| Klhl17 |
A |
T |
4: 156,316,054 (GRCm39) |
H433Q |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kntc1 |
A |
C |
5: 123,940,337 (GRCm39) |
N1645T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,661,923 (GRCm39) |
I114V |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,492,854 (GRCm39) |
L160Q |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,350,282 (GRCm39) |
S27C |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,132,596 (GRCm39) |
V217A |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,898 (GRCm39) |
Y257H |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,034 (GRCm39) |
C102* |
probably null |
Het |
| Pde1c |
T |
C |
6: 56,100,019 (GRCm39) |
K614E |
possibly damaging |
Het |
| Pds5b |
A |
T |
5: 150,671,577 (GRCm39) |
E407V |
probably damaging |
Het |
| Prkcb |
C |
T |
7: 122,167,372 (GRCm39) |
R361W |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,197 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
T |
A |
15: 73,103,805 (GRCm39) |
M82L |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,411,331 (GRCm39) |
D400G |
probably damaging |
Het |
| Samd8 |
G |
A |
14: 21,842,503 (GRCm39) |
R275Q |
possibly damaging |
Het |
| Senp2 |
A |
G |
16: 21,857,386 (GRCm39) |
T403A |
possibly damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Skap2 |
T |
A |
6: 51,980,649 (GRCm39) |
I52L |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,584,168 (GRCm39) |
D374G |
possibly damaging |
Het |
| Slmap |
A |
T |
14: 26,147,763 (GRCm39) |
L699M |
possibly damaging |
Het |
| Sntg1 |
A |
C |
1: 8,665,706 (GRCm39) |
C203G |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,594 (GRCm39) |
S3284P |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,857 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,906,311 (GRCm39) |
Y971C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,641,500 (GRCm39) |
I137F |
possibly damaging |
Het |
| Unk |
A |
G |
11: 115,945,232 (GRCm39) |
K426E |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,375,981 (GRCm39) |
D193G |
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 |
|
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 |
|
R8898:Pdzph1
|
UTSW |
17 |
59,281,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ATAGCTGGTCGACTCTCTAGGG -3'
(R):5'- AGACTACTGGGAACACATTTTCC -3'
Sequencing Primer
(F):5'- ACTCTCTAGGGTTTCTTATTGCCATG -3'
(R):5'- ACTGGGAACACATTTTCCTTTAGTC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation