Incidental Mutation 'PIT4362001:Pdzrn4'
| ID |
554653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzrn4
|
| Ensembl Gene |
ENSMUSG00000036218 |
| Gene Name |
PDZ domain containing RING finger 4 |
| Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
PIT4362001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92667762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 638
(D638V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035399]
[ENSMUST00000169942]
|
| AlphaFold |
E9PUZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035399
AA Change: D399V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: D399V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
1 |
56 |
4e-24 |
BLAST |
|
SCOP:d1qaua_
|
20 |
61 |
1e-3 |
SMART |
|
PDB:1UHP|A
|
21 |
64 |
9e-12 |
PDB |
|
PDZ
|
154 |
229 |
3.01e-18 |
SMART |
|
low complexity region
|
240 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
|
coiled coil region
|
394 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
741 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169942
AA Change: D638V
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: D638V
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
56 |
1.38e-1 |
SMART |
|
low complexity region
|
101 |
124 |
N/A |
INTRINSIC |
|
PDZ
|
213 |
295 |
3.82e-20 |
SMART |
|
PDZ
|
393 |
468 |
3.01e-18 |
SMART |
|
low complexity region
|
479 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
coiled coil region
|
633 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
980 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.2%
- 10x: 87.0%
- 20x: 78.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,283,398 (GRCm39) |
S28P |
possibly damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,129,100 (GRCm39) |
V165A |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,321,839 (GRCm39) |
T44S |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,796,861 (GRCm39) |
N482K |
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,866,591 (GRCm39) |
D182V |
|
Het |
| Atad5 |
C |
T |
11: 80,002,393 (GRCm39) |
H1062Y |
probably benign |
Het |
| Atp6v0b |
A |
G |
4: 117,742,453 (GRCm39) |
S147P |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,959,905 (GRCm39) |
Y299* |
probably null |
Het |
| Ccdc28b |
T |
C |
4: 129,514,818 (GRCm39) |
N97S |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,301,237 (GRCm39) |
V479A |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,087,022 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,968 (GRCm39) |
G426D |
probably damaging |
Het |
| Cog4 |
G |
A |
8: 111,593,304 (GRCm39) |
D472N |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,472 (GRCm39) |
L193* |
probably null |
Het |
| Cxcr6 |
A |
T |
9: 123,639,526 (GRCm39) |
I183F |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,453,664 (GRCm39) |
F253L |
probably benign |
Het |
| Dcaf8 |
T |
C |
1: 172,000,364 (GRCm39) |
V174A |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,779 (GRCm39) |
Y526C |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,766 (GRCm39) |
V33A |
probably benign |
Het |
| Egfl7 |
C |
T |
2: 26,481,052 (GRCm39) |
P188L |
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,039,607 (GRCm39) |
E707G |
probably damaging |
Het |
| Epn3 |
C |
T |
11: 94,387,349 (GRCm39) |
R7H |
probably damaging |
Het |
| Fbp1 |
T |
A |
13: 63,015,194 (GRCm39) |
I262F |
probably damaging |
Het |
| Fgfbp3 |
G |
A |
19: 36,896,088 (GRCm39) |
R177* |
probably null |
Het |
| Gask1b |
C |
A |
3: 79,794,246 (GRCm39) |
S238Y |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,471 (GRCm39) |
S52P |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,685,277 (GRCm39) |
S282T |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,985,431 (GRCm39) |
V133E |
possibly damaging |
Het |
| Gm4787 |
T |
G |
12: 81,423,949 (GRCm39) |
L736F |
probably benign |
Het |
| Gm5565 |
A |
T |
5: 146,095,109 (GRCm39) |
S212R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,459 (GRCm39) |
T1220A |
probably benign |
Het |
| Grp |
T |
G |
18: 66,019,297 (GRCm39) |
S133A |
probably benign |
Het |
| Gstp2 |
C |
A |
19: 4,090,713 (GRCm39) |
D147Y |
possibly damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,392 (GRCm39) |
F84L |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,475,220 (GRCm39) |
R944G |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,245,132 (GRCm39) |
N216K |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,367,882 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,608 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,907,055 (GRCm39) |
I1555T |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,451,677 (GRCm39) |
G189D |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,155,361 (GRCm39) |
E12G |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,844,542 (GRCm39) |
D152G |
possibly damaging |
Het |
| Med23 |
A |
G |
10: 24,750,469 (GRCm39) |
M99V |
probably benign |
Het |
| Mutyh |
G |
A |
4: 116,674,267 (GRCm39) |
V273M |
probably damaging |
Het |
| Neurod2 |
T |
A |
11: 98,218,708 (GRCm39) |
Y152F |
probably damaging |
Het |
| Or5d3 |
C |
T |
2: 88,174,357 (GRCm39) |
A247T |
probably benign |
Het |
| Or5g25 |
A |
C |
2: 85,478,068 (GRCm39) |
L199R |
probably damaging |
Het |
| Or8c20 |
G |
T |
9: 38,260,494 (GRCm39) |
L32F |
probably benign |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,571,451 (GRCm39) |
|
probably null |
Het |
| Polr1b |
A |
G |
2: 128,951,212 (GRCm39) |
D275G |
possibly damaging |
Het |
| Rnf157 |
T |
A |
11: 116,251,143 (GRCm39) |
D127V |
probably damaging |
Het |
| Rspo4 |
T |
A |
2: 151,709,803 (GRCm39) |
C69* |
probably null |
Het |
| Scara3 |
T |
C |
14: 66,173,851 (GRCm39) |
T63A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,182 (GRCm39) |
E289K |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,786 (GRCm39) |
T163A |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,358,213 (GRCm39) |
F446Y |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,029,269 (GRCm39) |
R351C |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,814,815 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,697,299 (GRCm39) |
C1996* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,030,337 (GRCm39) |
T398A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,510 (GRCm39) |
L260Q |
probably benign |
Het |
| Tspan12 |
A |
T |
6: 21,835,463 (GRCm39) |
V70D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,569,362 (GRCm39) |
A27177V |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,870 (GRCm39) |
V237A |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,460,542 (GRCm39) |
R233H |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,433,088 (GRCm39) |
T716A |
probably benign |
Het |
| Zbp1 |
A |
G |
2: 173,058,783 (GRCm39) |
I18T |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,807,524 (GRCm39) |
V1845A |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,579,393 (GRCm39) |
N573K |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,735 (GRCm39) |
T626A |
probably benign |
Het |
|
| Other mutations in Pdzrn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01932:Pdzrn4
|
APN |
15 |
92,644,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01991:Pdzrn4
|
APN |
15 |
92,299,807 (GRCm39) |
splice site |
probably null |
|
|
IGL02103:Pdzrn4
|
APN |
15 |
92,667,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02243:Pdzrn4
|
APN |
15 |
92,668,577 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02269:Pdzrn4
|
APN |
15 |
92,667,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03005:Pdzrn4
|
APN |
15 |
92,668,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Pdzrn4
|
UTSW |
15 |
92,668,200 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0367:Pdzrn4
|
UTSW |
15 |
92,655,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0972:Pdzrn4
|
UTSW |
15 |
92,655,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1168:Pdzrn4
|
UTSW |
15 |
92,668,152 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1411:Pdzrn4
|
UTSW |
15 |
92,668,894 (GRCm39) |
makesense |
probably null |
|
|
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1489:Pdzrn4
|
UTSW |
15 |
92,575,593 (GRCm39) |
missense |
probably benign |
|
|
R1503:Pdzrn4
|
UTSW |
15 |
92,297,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1561:Pdzrn4
|
UTSW |
15 |
92,575,518 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1584:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1733:Pdzrn4
|
UTSW |
15 |
92,299,855 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1965:Pdzrn4
|
UTSW |
15 |
92,644,190 (GRCm39) |
splice site |
probably null |
|
|
R2061:Pdzrn4
|
UTSW |
15 |
92,668,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3010:Pdzrn4
|
UTSW |
15 |
92,667,692 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4016:Pdzrn4
|
UTSW |
15 |
92,297,630 (GRCm39) |
missense |
probably benign |
|
|
R4032:Pdzrn4
|
UTSW |
15 |
92,667,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Pdzrn4
|
UTSW |
15 |
92,668,745 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4180:Pdzrn4
|
UTSW |
15 |
92,299,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4539:Pdzrn4
|
UTSW |
15 |
92,668,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Pdzrn4
|
UTSW |
15 |
92,667,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Pdzrn4
|
UTSW |
15 |
92,668,133 (GRCm39) |
nonsense |
probably null |
|
|
R4900:Pdzrn4
|
UTSW |
15 |
92,668,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Pdzrn4
|
UTSW |
15 |
92,575,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5444:Pdzrn4
|
UTSW |
15 |
92,668,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Pdzrn4
|
UTSW |
15 |
92,295,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6192:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Pdzrn4
|
UTSW |
15 |
92,578,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6613:Pdzrn4
|
UTSW |
15 |
92,575,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7046:Pdzrn4
|
UTSW |
15 |
92,668,303 (GRCm39) |
nonsense |
probably null |
|
|
R7096:Pdzrn4
|
UTSW |
15 |
92,295,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7451:Pdzrn4
|
UTSW |
15 |
92,667,948 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8075:Pdzrn4
|
UTSW |
15 |
92,575,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8125:Pdzrn4
|
UTSW |
15 |
92,641,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Pdzrn4
|
UTSW |
15 |
92,668,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Pdzrn4
|
UTSW |
15 |
92,295,216 (GRCm39) |
missense |
probably benign |
|
|
R9555:Pdzrn4
|
UTSW |
15 |
92,297,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Pdzrn4
|
UTSW |
15 |
92,299,877 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9622:Pdzrn4
|
UTSW |
15 |
92,294,949 (GRCm39) |
missense |
probably benign |
|
|
R9763:Pdzrn4
|
UTSW |
15 |
92,668,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Pdzrn4
|
UTSW |
15 |
92,578,353 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0018:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0020:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0021:Pdzrn4
|
UTSW |
15 |
92,575,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0027:Pdzrn4
|
UTSW |
15 |
92,578,393 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0027:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0065:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Pdzrn4
|
UTSW |
15 |
92,294,838 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGCAGTGAGAGTTGTGC -3'
(R):5'- TCGAGCTGTCCTTGTCTGAC -3'
Sequencing Primer
(F):5'- CTGGGGGTGAGTGCTTAGACTC -3'
(R):5'- GGTGTTCCATGATGTCATCCAG -3'
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| Posted On |
2019-06-07 |
Incidental Mutation