Incidental Mutation 'R8116:Pdzph1'
| ID |
631234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
067545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8116 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59282138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 48
(N48S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025064
AA Change: N48S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: N48S
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,982,420 (GRCm39) |
N7K |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,111,183 (GRCm39) |
D3081E |
probably benign |
Het |
| Amer2 |
G |
A |
14: 60,616,854 (GRCm39) |
A350T |
probably damaging |
Het |
| Amotl1 |
A |
G |
9: 14,466,868 (GRCm39) |
|
probably null |
Het |
| Ankib1 |
A |
T |
5: 3,752,995 (GRCm39) |
V651E |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,115,283 (GRCm39) |
V756A |
probably damaging |
Het |
| Arap2 |
A |
C |
5: 62,887,954 (GRCm39) |
I464S |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 60,263,657 (GRCm39) |
M359R |
probably damaging |
Het |
| Aunip |
T |
C |
4: 134,250,618 (GRCm39) |
S188P |
possibly damaging |
Het |
| Cdt1 |
A |
G |
8: 123,298,728 (GRCm39) |
E455G |
probably benign |
Het |
| Cyp2r1 |
G |
T |
7: 114,149,590 (GRCm39) |
H475N |
probably benign |
Het |
| Dnah7a |
G |
T |
1: 53,543,049 (GRCm39) |
H2374N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Dst |
G |
A |
1: 34,313,261 (GRCm39) |
A4343T |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 105,002,677 (GRCm39) |
D304G |
possibly damaging |
Het |
| Efcc1 |
T |
C |
6: 87,728,772 (GRCm39) |
L409P |
probably damaging |
Het |
| Eno1 |
G |
T |
4: 150,325,526 (GRCm39) |
S37I |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,601,196 (GRCm39) |
L517Q |
probably damaging |
Het |
| Farp1 |
T |
G |
14: 121,471,232 (GRCm39) |
I196S |
probably damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,128,919 (GRCm39) |
T310A |
possibly damaging |
Het |
| Fbxo31 |
C |
T |
8: 122,287,127 (GRCm39) |
V149M |
probably damaging |
Het |
| Ggcx |
C |
A |
6: 72,406,511 (GRCm39) |
T658N |
possibly damaging |
Het |
| Gpc5 |
A |
C |
14: 115,636,637 (GRCm39) |
H440P |
probably damaging |
Het |
| H13 |
C |
T |
2: 152,537,446 (GRCm39) |
A297V |
probably damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,443 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ifi207 |
G |
A |
1: 173,557,746 (GRCm39) |
P331S |
unknown |
Het |
| Il11ra1 |
G |
T |
4: 41,766,251 (GRCm39) |
A263S |
probably benign |
Het |
| Il1a |
C |
A |
2: 129,144,864 (GRCm39) |
V185F |
probably damaging |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Kdm4d |
T |
A |
9: 14,375,237 (GRCm39) |
K207M |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,434,115 (GRCm39) |
M3018K |
unknown |
Het |
| Lrrc4b |
T |
C |
7: 44,110,533 (GRCm39) |
L135P |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,912,371 (GRCm39) |
Y1730H |
possibly damaging |
Het |
| Mcpt2 |
C |
A |
14: 56,279,663 (GRCm39) |
A18D |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,502,756 (GRCm39) |
R937* |
probably null |
Het |
| Muc16 |
T |
A |
9: 18,570,033 (GRCm39) |
T829S |
unknown |
Het |
| Myof |
A |
C |
19: 37,921,167 (GRCm39) |
I1365S |
probably damaging |
Het |
| Npc2 |
C |
T |
12: 84,807,612 (GRCm39) |
R82Q |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,249,081 (GRCm39) |
S228T |
probably damaging |
Het |
| Or10d1c |
A |
T |
9: 38,894,169 (GRCm39) |
M57K |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,098,047 (GRCm39) |
F102I |
possibly damaging |
Het |
| Or2g25 |
G |
A |
17: 37,970,631 (GRCm39) |
L198F |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,783 (GRCm39) |
D2G |
probably benign |
Het |
| Or8b3b |
A |
T |
9: 38,584,464 (GRCm39) |
I92N |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,789,026 (GRCm39) |
S185T |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,513,262 (GRCm39) |
H187L |
probably benign |
Het |
| Pramel6 |
G |
T |
2: 87,338,808 (GRCm39) |
V3F |
probably benign |
Het |
| Prr5l |
CCTCGCTCGCTCGCTCGC |
CCTCGCTCGCTCGC |
2: 101,627,919 (GRCm39) |
|
probably null |
Het |
| Pwwp3a |
G |
A |
10: 80,076,231 (GRCm39) |
G474S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,530,012 (GRCm39) |
Y358H |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,855,727 (GRCm39) |
S625P |
probably damaging |
Het |
| Rhot1 |
A |
T |
11: 80,141,879 (GRCm39) |
K461I |
probably benign |
Het |
| Rpa1 |
G |
A |
11: 75,193,501 (GRCm39) |
T610I |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,810,308 (GRCm39) |
H316N |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,089,205 (GRCm39) |
S1648P |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,702,140 (GRCm39) |
D923E |
possibly damaging |
Het |
| Spata6 |
A |
G |
4: 111,685,517 (GRCm39) |
Y474C |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,089,117 (GRCm39) |
I715N |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,880,910 (GRCm39) |
D627E |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,495,420 (GRCm39) |
C98* |
probably null |
Het |
| Tfpi2 |
T |
C |
6: 3,963,872 (GRCm39) |
T187A |
probably damaging |
Het |
| Tmem63a |
G |
T |
1: 180,788,048 (GRCm39) |
K267N |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,604,708 (GRCm39) |
A1104V |
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,442,490 (GRCm39) |
I231T |
possibly damaging |
Het |
| Utp15 |
G |
A |
13: 98,387,371 (GRCm39) |
T401I |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,322,926 (GRCm39) |
K121R |
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,663,830 (GRCm39) |
R363H |
probably damaging |
Het |
| Zfand2b |
T |
A |
1: 75,145,504 (GRCm39) |
F3L |
possibly damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,374,944 (GRCm39) |
S357T |
probably damaging |
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 |
|
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'- AACATGGCCACTGGTAAGACTTC -3'
(R):5'- TGGAAACCAATGGAAACTATTACCC -3'
Sequencing Primer
(F):5'- CACTGGTAAGACTTCCTCTAGTTGAG -3'
(R):5'- CATCCTGTGATTTGGAACATCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation