Incidental Mutation 'R8820:Pdzph1'
| ID |
673008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
068653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8820 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
58878808-58991375 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to C
at 58880720 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1168
(Y1168*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
[ENSMUST00000177360]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025064
AA Change: Y1168*
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: Y1168*
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177360
AA Change: Y128*
|
| SMART Domains |
Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: Y128*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1faoa_
|
1 |
54 |
1e-4 |
SMART |
|
Blast:PH
|
1 |
56 |
4e-33 |
BLAST |
|
PH
|
80 |
178 |
2.83e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310035C23Rik |
T |
A |
1: 105,726,454 (GRCm38) |
F873L |
possibly damaging |
Het |
| 4930504O13Rik |
T |
G |
11: 58,446,303 (GRCm38) |
S115R |
probably damaging |
Het |
| Abca17 |
A |
G |
17: 24,328,602 (GRCm38) |
L266P |
probably damaging |
Het |
| Abcb1a |
A |
T |
5: 8,723,204 (GRCm38) |
T811S |
possibly damaging |
Het |
| Als2cl |
T |
C |
9: 110,885,787 (GRCm38) |
F125L |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,528,740 (GRCm38) |
I406V |
probably benign |
Het |
| Cdyl |
T |
C |
13: 35,858,191 (GRCm38) |
I404T |
probably damaging |
Het |
| Clasrp |
C |
T |
7: 19,586,437 (GRCm38) |
R432H |
unknown |
Het |
| Clk2 |
T |
A |
3: 89,175,423 (GRCm38) |
M392K |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,228,280 (GRCm38) |
N1402K |
possibly damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,298,367 (GRCm38) |
H168R |
probably damaging |
Het |
| Dapl1 |
T |
C |
2: 59,504,712 (GRCm38) |
L70P |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,977,914 (GRCm38) |
K836* |
probably null |
Het |
| Dsel |
A |
G |
1: 111,860,264 (GRCm38) |
L847P |
probably benign |
Het |
| Fbxw17 |
A |
T |
13: 50,433,315 (GRCm38) |
K437M |
possibly damaging |
Het |
| Fktn |
T |
C |
4: 53,735,001 (GRCm38) |
V174A |
possibly damaging |
Het |
| Frem1 |
C |
A |
4: 82,903,517 (GRCm38) |
S2118I |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,247 (GRCm38) |
V110M |
unknown |
Het |
| Gabrb3 |
T |
C |
7: 57,792,581 (GRCm38) |
S212P |
probably damaging |
Het |
| Gimap9 |
A |
G |
6: 48,677,887 (GRCm38) |
D136G |
probably benign |
Het |
| Gldc |
C |
G |
19: 30,100,812 (GRCm38) |
M928I |
probably benign |
Het |
| Hmmr |
G |
A |
11: 40,721,672 (GRCm38) |
S206F |
probably damaging |
Het |
| Ift46 |
C |
T |
9: 44,790,522 (GRCm38) |
T283I |
probably damaging |
Het |
| Il1f8 |
C |
T |
2: 24,159,880 (GRCm38) |
Q168* |
probably null |
Het |
| Ldb2 |
G |
A |
5: 44,799,415 (GRCm38) |
Q27* |
probably null |
Het |
| Lmcd1 |
T |
A |
6: 112,329,809 (GRCm38) |
I314N |
probably damaging |
Het |
| Mctp2 |
C |
A |
7: 72,229,333 (GRCm38) |
V259L |
probably benign |
Het |
| Midn |
T |
G |
10: 80,154,400 (GRCm38) |
S302A |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,029,227 (GRCm38) |
V797A |
|
Het |
| Npm2 |
A |
G |
14: 70,648,328 (GRCm38) |
S146P |
probably damaging |
Het |
| Npr1 |
G |
A |
3: 90,464,894 (GRCm38) |
R204C |
probably damaging |
Het |
| Olfr338 |
T |
C |
2: 36,376,994 (GRCm38) |
S73P |
probably damaging |
Het |
| Olfr353 |
C |
A |
2: 36,890,610 (GRCm38) |
M79I |
probably benign |
Het |
| Olfr49 |
C |
T |
14: 54,282,613 (GRCm38) |
G94D |
probably benign |
Het |
| Olfr665 |
T |
A |
7: 104,881,655 (GRCm38) |
V316D |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,476,480 (GRCm38) |
N290D |
probably benign |
Het |
| Paip2b |
A |
C |
6: 83,814,756 (GRCm38) |
M48R |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,473,918 (GRCm38) |
S68T |
probably benign |
Het |
| Pcnx |
T |
A |
12: 81,973,248 (GRCm38) |
H715Q |
|
Het |
| Pcsk2 |
T |
A |
2: 143,801,070 (GRCm38) |
H422Q |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,252,673 (GRCm38) |
E201K |
possibly damaging |
Het |
| Prelp |
T |
C |
1: 133,915,140 (GRCm38) |
N89S |
probably damaging |
Het |
| Proz |
T |
A |
8: 13,063,253 (GRCm38) |
F25I |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,748,657 (GRCm38) |
N799S |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,859,724 (GRCm38) |
V1180A |
probably benign |
Het |
| Ryr3 |
G |
A |
2: 112,635,792 (GRCm38) |
R4795W |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,816,520 (GRCm38) |
I123V |
probably benign |
Het |
| Sema4b |
G |
C |
7: 80,220,500 (GRCm38) |
E475D |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,255,379 (GRCm38) |
M343I |
probably damaging |
Het |
| Serinc5 |
G |
T |
13: 92,708,036 (GRCm38) |
V429F |
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,899,821 (GRCm38) |
K115N |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,310,724 (GRCm38) |
D765A |
probably damaging |
Het |
| Tmem2 |
G |
A |
19: 21,807,454 (GRCm38) |
V434M |
probably damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 116,068,172 (GRCm38) |
|
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,834,464 (GRCm38) |
R176* |
probably null |
Het |
| Zfp27 |
T |
C |
7: 29,894,588 (GRCm38) |
K651E |
probably benign |
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 |
|
R5329:Pdzph1
|
UTSW |
17 |
58,974,880 (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 |
|
|
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'- AGATAGCGGGGATGCATTTG -3'
(R):5'- GCATTTTAGTGTCAACCTATGGG -3'
Sequencing Primer
(F):5'- GTTTGTCAAGGCTCACACAG -3'
(R):5'- TGGGATTTCAACTCAGGACC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation