Incidental Mutation 'R5329:Pdzph1'
| ID |
422249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
042911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5329 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
58878808-58991375 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58974880 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 136
(I136F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025064
AA Change: I136F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: I136F
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
G |
A |
4: 153,959,827 (GRCm38) |
V32I |
probably benign |
Het |
| Abcg4 |
A |
T |
9: 44,279,545 (GRCm38) |
M19K |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,656,051 (GRCm38) |
T392A |
probably benign |
Het |
| Adam19 |
A |
T |
11: 46,125,026 (GRCm38) |
I338F |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,570,163 (GRCm38) |
M349I |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,679,752 (GRCm38) |
|
probably benign |
Het |
| Bptf |
T |
C |
11: 107,073,295 (GRCm38) |
D1628G |
probably benign |
Het |
| Camk2d |
C |
T |
3: 126,597,482 (GRCm38) |
Q15* |
probably null |
Het |
| Camk2g |
T |
G |
14: 20,793,931 (GRCm38) |
D12A |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,779,990 (GRCm38) |
M1V |
probably null |
Het |
| Clec16a |
G |
A |
16: 10,731,679 (GRCm38) |
C872Y |
probably damaging |
Het |
| Dcbld1 |
C |
A |
10: 52,284,257 (GRCm38) |
|
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,047,060 (GRCm38) |
|
noncoding transcript |
Het |
| Espl1 |
T |
A |
15: 102,312,518 (GRCm38) |
L903Q |
probably damaging |
Het |
| Gm11639 |
T |
G |
11: 104,753,806 (GRCm38) |
|
probably null |
Het |
| Gm5117 |
T |
A |
8: 31,737,882 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5150 |
T |
C |
3: 15,963,424 (GRCm38) |
T228A |
probably benign |
Het |
| Gm5435 |
A |
T |
12: 82,496,476 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr156 |
T |
A |
16: 38,005,448 (GRCm38) |
C676S |
probably benign |
Het |
| Gstt3 |
C |
T |
10: 75,774,851 (GRCm38) |
E230K |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 44,906,271 (GRCm38) |
I660V |
possibly damaging |
Het |
| Kif13a |
A |
G |
13: 46,775,401 (GRCm38) |
|
probably null |
Het |
| Kntc1 |
T |
A |
5: 123,764,191 (GRCm38) |
V299D |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,669,198 (GRCm38) |
L351I |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,020,213 (GRCm38) |
|
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,332,682 (GRCm38) |
L334P |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,446,477 (GRCm38) |
Y327N |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,361,128 (GRCm38) |
S705L |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm38) |
I251V |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,434,819 (GRCm38) |
Q57L |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,686,240 (GRCm38) |
E645G |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,708,117 (GRCm38) |
M1K |
probably null |
Het |
| Nlrp9b |
A |
T |
7: 20,023,991 (GRCm38) |
R384S |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,813,584 (GRCm38) |
H62R |
possibly damaging |
Het |
| Olfr1097 |
A |
G |
2: 86,890,620 (GRCm38) |
L185S |
probably damaging |
Het |
| Olfr1233 |
T |
A |
2: 89,339,459 (GRCm38) |
Y281F |
probably damaging |
Het |
| Olfr640 |
T |
C |
7: 104,021,997 (GRCm38) |
H107R |
probably damaging |
Het |
| Olfr753-ps1 |
T |
A |
17: 37,170,000 (GRCm38) |
Y216F |
probably damaging |
Het |
| Olfr887 |
A |
T |
9: 38,085,126 (GRCm38) |
M97L |
probably benign |
Het |
| Pigg |
T |
C |
5: 108,314,160 (GRCm38) |
I119T |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,458,893 (GRCm38) |
H215R |
probably damaging |
Het |
| Sept14 |
C |
T |
5: 129,685,914 (GRCm38) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,150,960 (GRCm38) |
M166T |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,345,782 (GRCm38) |
D279G |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,833,430 (GRCm38) |
I967V |
probably damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,987,176 (GRCm38) |
L234P |
probably damaging |
Het |
| Tmem176a |
A |
G |
6: 48,842,217 (GRCm38) |
D4G |
probably benign |
Het |
| Tmem2 |
T |
C |
19: 21,798,329 (GRCm38) |
I312T |
probably benign |
Het |
| Ugt1a10 |
G |
A |
1: 88,216,254 (GRCm38) |
A199T |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,624,545 (GRCm38) |
D152G |
probably damaging |
Het |
| Vmn1r35 |
C |
T |
6: 66,679,506 (GRCm38) |
W60* |
probably null |
Het |
| Vmn2r103 |
T |
C |
17: 19,812,171 (GRCm38) |
C736R |
probably damaging |
Het |
|
| Other mutations in Pdzph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Pdzph1
|
APN |
17 |
58,974,796 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL00644:Pdzph1
|
APN |
17 |
58,888,110 (GRCm38) |
missense |
probably benign |
|
|
IGL01413:Pdzph1
|
APN |
17 |
58,879,152 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01530:Pdzph1
|
APN |
17 |
58,922,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02089:Pdzph1
|
APN |
17 |
58,967,339 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02201:Pdzph1
|
APN |
17 |
58,967,511 (GRCm38) |
splice site |
probably benign |
|
|
IGL02548:Pdzph1
|
APN |
17 |
58,973,391 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02618:Pdzph1
|
APN |
17 |
58,879,073 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02660:Pdzph1
|
APN |
17 |
58,880,647 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02749:Pdzph1
|
APN |
17 |
58,932,483 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02876:Pdzph1
|
APN |
17 |
58,974,069 (GRCm38) |
missense |
probably benign |
|
|
IGL03304:Pdzph1
|
APN |
17 |
58,880,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03336:Pdzph1
|
APN |
17 |
58,974,234 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0008:Pdzph1
|
UTSW |
17 |
58,922,761 (GRCm38) |
splice site |
probably benign |
|
|
R0008:Pdzph1
|
UTSW |
17 |
58,922,761 (GRCm38) |
splice site |
probably benign |
|
|
R0498:Pdzph1
|
UTSW |
17 |
58,973,830 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0553:Pdzph1
|
UTSW |
17 |
58,922,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0594:Pdzph1
|
UTSW |
17 |
58,954,479 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R1306:Pdzph1
|
UTSW |
17 |
58,932,432 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1370:Pdzph1
|
UTSW |
17 |
58,974,087 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1382:Pdzph1
|
UTSW |
17 |
58,974,747 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1463:Pdzph1
|
UTSW |
17 |
58,932,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1766:Pdzph1
|
UTSW |
17 |
58,973,752 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1773:Pdzph1
|
UTSW |
17 |
58,974,813 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1862:Pdzph1
|
UTSW |
17 |
58,922,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2070:Pdzph1
|
UTSW |
17 |
58,974,097 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2071:Pdzph1
|
UTSW |
17 |
58,974,097 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2229:Pdzph1
|
UTSW |
17 |
58,932,412 (GRCm38) |
splice site |
probably benign |
|
|
R2264:Pdzph1
|
UTSW |
17 |
58,888,167 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2334:Pdzph1
|
UTSW |
17 |
58,922,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3750:Pdzph1
|
UTSW |
17 |
58,973,336 (GRCm38) |
nonsense |
probably null |
|
|
R4700:Pdzph1
|
UTSW |
17 |
58,974,546 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4847:Pdzph1
|
UTSW |
17 |
58,973,530 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4868:Pdzph1
|
UTSW |
17 |
58,974,756 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5130:Pdzph1
|
UTSW |
17 |
58,922,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5574:Pdzph1
|
UTSW |
17 |
58,973,947 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5770:Pdzph1
|
UTSW |
17 |
58,879,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5795:Pdzph1
|
UTSW |
17 |
58,885,867 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5842:Pdzph1
|
UTSW |
17 |
58,974,412 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5851:Pdzph1
|
UTSW |
17 |
58,973,746 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6158:Pdzph1
|
UTSW |
17 |
58,973,627 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6813:Pdzph1
|
UTSW |
17 |
58,974,436 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7022:Pdzph1
|
UTSW |
17 |
58,974,126 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7395:Pdzph1
|
UTSW |
17 |
58,879,159 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7525:Pdzph1
|
UTSW |
17 |
58,967,341 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7944:Pdzph1
|
UTSW |
17 |
58,932,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7945:Pdzph1
|
UTSW |
17 |
58,932,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7992:Pdzph1
|
UTSW |
17 |
58,879,110 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8016:Pdzph1
|
UTSW |
17 |
58,932,481 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8116:Pdzph1
|
UTSW |
17 |
58,975,143 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8273:Pdzph1
|
UTSW |
17 |
58,973,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8523:Pdzph1
|
UTSW |
17 |
58,884,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8819:Pdzph1
|
UTSW |
17 |
58,880,720 (GRCm38) |
nonsense |
probably null |
|
|
R8820:Pdzph1
|
UTSW |
17 |
58,880,720 (GRCm38) |
nonsense |
probably null |
|
|
R8839:Pdzph1
|
UTSW |
17 |
58,950,242 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8871:Pdzph1
|
UTSW |
17 |
58,888,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8898:Pdzph1
|
UTSW |
17 |
58,974,339 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8959:Pdzph1
|
UTSW |
17 |
58,974,604 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9043:Pdzph1
|
UTSW |
17 |
58,973,540 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9083:Pdzph1
|
UTSW |
17 |
58,954,400 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9092:Pdzph1
|
UTSW |
17 |
58,973,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9682:Pdzph1
|
UTSW |
17 |
58,950,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9757:Pdzph1
|
UTSW |
17 |
58,974,903 (GRCm38) |
nonsense |
probably null |
|
|
R9774:Pdzph1
|
UTSW |
17 |
58,974,756 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0028:Pdzph1
|
UTSW |
17 |
58,879,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTTTAGAGAAGTGACCCCG -3'
(R):5'- AGGGACACACTTCTGAGACTG -3'
Sequencing Primer
(F):5'- TTTAGAGAAGTGACCCCGAGATTTG -3'
(R):5'- GAGACTGTGTTTCATCAGACTAGGAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation