Incidental Mutation 'R2264:Pdzph1'
| ID |
244028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
040264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R2264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 59195162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
[ENSMUST00000177360]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025064
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
| 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 |
noncoding transcript
Transcript: ENSMUST00000177108
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177360
|
| SMART Domains |
Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (65/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,100 (GRCm39) |
S1042P |
probably damaging |
Het |
| Armc1 |
C |
T |
3: 19,189,033 (GRCm39) |
V211I |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,180,771 (GRCm39) |
*986W |
probably null |
Het |
| BC024139 |
T |
A |
15: 76,010,117 (GRCm39) |
D105V |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,434 (GRCm39) |
Q225* |
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,323,339 (GRCm39) |
H1043R |
probably benign |
Het |
| Ccdc42 |
T |
C |
11: 68,478,477 (GRCm39) |
V33A |
probably benign |
Het |
| Cldn1 |
A |
G |
16: 26,177,949 (GRCm39) |
Y159H |
probably damaging |
Het |
| Cog6 |
A |
T |
3: 52,900,332 (GRCm39) |
C476* |
probably null |
Het |
| Col14a1 |
T |
G |
15: 55,330,086 (GRCm39) |
|
probably null |
Het |
| Crisp1 |
C |
T |
17: 40,623,965 (GRCm39) |
M1I |
probably null |
Het |
| Dip2b |
T |
A |
15: 100,101,097 (GRCm39) |
S1297T |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,543,383 (GRCm39) |
E262G |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,154,155 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
A |
C |
2: 62,208,583 (GRCm39) |
V187G |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,971 (GRCm39) |
D1482G |
probably benign |
Het |
| Fads6 |
T |
A |
11: 115,177,061 (GRCm39) |
T132S |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,944,571 (GRCm39) |
I1155V |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,757,110 (GRCm39) |
|
probably null |
Het |
| Fstl1 |
C |
T |
16: 37,597,653 (GRCm39) |
|
probably benign |
Het |
| Get3 |
G |
A |
8: 85,751,887 (GRCm39) |
|
probably benign |
Het |
| Gm5089 |
T |
C |
14: 122,673,514 (GRCm39) |
Y69C |
unknown |
Het |
| Gm9871 |
T |
C |
6: 101,773,201 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr89 |
A |
G |
3: 96,779,831 (GRCm39) |
S375P |
probably damaging |
Het |
| Gtf2h4 |
A |
G |
17: 35,979,556 (GRCm39) |
|
probably benign |
Het |
| Gtsf1 |
T |
A |
15: 103,328,391 (GRCm39) |
N148I |
possibly damaging |
Het |
| Hexa |
T |
C |
9: 59,462,660 (GRCm39) |
S129P |
probably damaging |
Het |
| Iigp1 |
A |
T |
18: 60,523,738 (GRCm39) |
E285D |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,403,651 (GRCm39) |
|
probably null |
Het |
| Iqch |
T |
C |
9: 63,419,581 (GRCm39) |
K463R |
probably benign |
Het |
| Kcnd1 |
A |
G |
X: 7,690,323 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
T |
1: 178,756,407 (GRCm39) |
|
probably null |
Het |
| Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,312,710 (GRCm39) |
D2526G |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,910,525 (GRCm39) |
G851C |
probably damaging |
Het |
| Mtmr11 |
A |
T |
3: 96,076,413 (GRCm39) |
E456V |
possibly damaging |
Het |
| Muc13 |
G |
A |
16: 33,628,409 (GRCm39) |
|
probably null |
Het |
| Myo18a |
C |
A |
11: 77,710,798 (GRCm39) |
|
probably benign |
Het |
| Nphp4 |
T |
A |
4: 152,587,465 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,103,659 (GRCm39) |
E445G |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,686,941 (GRCm39) |
|
probably null |
Het |
| Or8b1 |
G |
T |
9: 38,399,351 (GRCm39) |
V9L |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,531,288 (GRCm39) |
S57P |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,569,858 (GRCm39) |
N335D |
probably damaging |
Het |
| Pea15a |
C |
T |
1: 172,026,704 (GRCm39) |
R79H |
probably benign |
Het |
| Pik3ca |
A |
C |
3: 32,492,076 (GRCm39) |
I225L |
possibly damaging |
Het |
| Pim3 |
T |
A |
15: 88,748,793 (GRCm39) |
I270N |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,829,112 (GRCm39) |
R1043S |
probably damaging |
Het |
| Plekhg6 |
A |
G |
6: 125,354,431 (GRCm39) |
S70P |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,637,527 (GRCm39) |
D138E |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,455,034 (GRCm39) |
L354P |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,127,443 (GRCm39) |
S590T |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,206,304 (GRCm39) |
|
probably benign |
Het |
| Slfn3 |
T |
G |
11: 83,103,798 (GRCm39) |
I223S |
probably benign |
Het |
| Smarca1 |
C |
T |
X: 46,964,160 (GRCm39) |
V331I |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,265,267 (GRCm39) |
|
probably benign |
Het |
| Tinagl1 |
A |
G |
4: 130,061,226 (GRCm39) |
V308A |
probably benign |
Het |
| Tomm22 |
T |
A |
15: 79,555,488 (GRCm39) |
Y78N |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,380,609 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,623,474 (GRCm39) |
V15368I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,147,684 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,970,424 (GRCm39) |
|
probably null |
Het |
| Xkr7 |
A |
T |
2: 152,896,177 (GRCm39) |
I344F |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,364,919 (GRCm39) |
C252S |
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 |
|
|
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 |
|
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'- AGATTGCTGGGTTACCTCTTCATC -3'
(R):5'- GGTGCTCTCTAGAGATGTCACG -3'
Sequencing Primer
(F):5'- CATCTCTTGGTTTGAGGTTGCACAG -3'
(R):5'- GAGATGTCACGCAATTATAAGGTAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation