Incidental Mutation 'R8125:Pdzrn4'
| ID |
631731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzrn4
|
| Ensembl Gene |
ENSMUSG00000036218 |
| Gene Name |
PDZ domain containing RING finger 4 |
| Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
| MMRRC Submission |
067554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R8125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92641476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 391
(S391G)
|
| 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: S152G
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: S152G
| 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 |
probably damaging
Transcript: ENSMUST00000169942
AA Change: S391G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: S391G
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,608,709 (GRCm39) |
T143K |
probably benign |
Het |
| 4933434E20Rik |
T |
A |
3: 89,972,818 (GRCm39) |
V74D |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Adam20 |
A |
T |
8: 41,247,973 (GRCm39) |
I28L |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,541 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,989,240 (GRCm39) |
A3508V |
possibly damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,738,209 (GRCm39) |
I235T |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,201,554 (GRCm39) |
T164A |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 86,077,817 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ccdc185 |
C |
A |
1: 182,574,835 (GRCm39) |
S618I |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,406,614 (GRCm39) |
I805K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cmtm2a |
A |
T |
8: 105,019,343 (GRCm39) |
I82N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,515,806 (GRCm39) |
H416L |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,414,089 (GRCm39) |
T909A |
possibly damaging |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,700,953 (GRCm39) |
T1218A |
unknown |
Het |
| Ebf1 |
T |
C |
11: 44,863,742 (GRCm39) |
I364T |
probably damaging |
Het |
| Efcab10 |
C |
A |
12: 33,448,313 (GRCm39) |
R49S |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,162 (GRCm39) |
|
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gm49358 |
T |
A |
10: 86,656,857 (GRCm39) |
F273Y |
|
Het |
| Gria2 |
T |
A |
3: 80,614,550 (GRCm39) |
I497F |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,331,078 (GRCm39) |
T426A |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,354,811 (GRCm39) |
I337V |
probably benign |
Het |
| Krtap19-5 |
A |
T |
16: 88,693,236 (GRCm39) |
Y25* |
probably null |
Het |
| Lamb2 |
T |
G |
9: 108,364,722 (GRCm39) |
S1159A |
probably benign |
Het |
| Mpig6b |
A |
T |
17: 35,284,328 (GRCm39) |
L154Q |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,343,594 (GRCm39) |
I118T |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,435,690 (GRCm39) |
N536K |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,894 (GRCm39) |
S729P |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,598 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,688,520 (GRCm39) |
G586W |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,570,087 (GRCm39) |
K291E |
possibly damaging |
Het |
| Nr5a1 |
C |
T |
2: 38,591,993 (GRCm39) |
V327I |
probably damaging |
Het |
| Nup85 |
TACAAGACAA |
TACAA |
11: 115,469,063 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
T |
17: 37,590,935 (GRCm39) |
H125Q |
probably benign |
Het |
| Or4f4-ps1 |
A |
T |
2: 111,330,332 (GRCm39) |
D245V |
possibly damaging |
Het |
| Or4g17 |
T |
C |
2: 111,210,086 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 61,807,143 (GRCm39) |
Y53H |
probably damaging |
Het |
| Pcyox1l |
G |
A |
18: 61,840,576 (GRCm39) |
P26L |
unknown |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,416,803 (GRCm39) |
Q459* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,897,241 (GRCm39) |
C556Y |
probably damaging |
Het |
| Plin1 |
A |
G |
7: 79,379,599 (GRCm39) |
F84L |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,801 (GRCm39) |
|
probably null |
Het |
| Sdc1 |
G |
A |
12: 8,840,663 (GRCm39) |
V143I |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,278,446 (GRCm39) |
|
probably null |
Het |
| Skor2 |
C |
A |
18: 76,947,373 (GRCm39) |
A365E |
unknown |
Het |
| Slc16a7 |
A |
G |
10: 125,164,202 (GRCm39) |
|
probably null |
Het |
| Slc25a31 |
T |
A |
3: 40,663,573 (GRCm39) |
V51E |
probably damaging |
Het |
| Slc6a6 |
C |
A |
6: 91,703,087 (GRCm39) |
F153L |
probably damaging |
Het |
| Snx7 |
T |
A |
3: 117,630,894 (GRCm39) |
K238M |
probably damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Spata31f3 |
A |
G |
4: 42,873,051 (GRCm39) |
L80P |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,241,303 (GRCm39) |
Q1587P |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,850,618 (GRCm39) |
I298T |
possibly damaging |
Het |
| Tmem247 |
A |
G |
17: 87,229,795 (GRCm39) |
Y120C |
|
Het |
| Togaram2 |
C |
G |
17: 72,023,489 (GRCm39) |
L802V |
probably benign |
Het |
| Trim32 |
T |
C |
4: 65,532,199 (GRCm39) |
V252A |
probably benign |
Het |
| Ube2q2l |
T |
G |
6: 136,378,184 (GRCm39) |
R215S |
possibly damaging |
Het |
| Vat1 |
T |
C |
11: 101,351,029 (GRCm39) |
K404R |
probably benign |
Het |
| Xirp2 |
C |
A |
2: 67,342,379 (GRCm39) |
T1540K |
probably benign |
Het |
| Zc2hc1c |
C |
T |
12: 85,343,386 (GRCm39) |
H508Y |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,579,310 (GRCm39) |
M601K |
probably damaging |
Het |
| Zfp951 |
A |
T |
5: 104,963,169 (GRCm39) |
Y132* |
probably null |
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 |
|
PIT4362001:Pdzrn4
|
UTSW |
15 |
92,667,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
|
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'- GGTGTGCAAATTCATGTGAGTC -3'
(R):5'- TCAGGCCTTGGAAAAGAGGC -3'
Sequencing Primer
(F):5'- GAATGAGCTGATTTAAGTCTACGAG -3'
(R):5'- CCTTGGAAAAGAGGCTTCCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation