Incidental Mutation 'R0783:Pcnx4'
| ID |
76730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnx4
|
| Ensembl Gene |
ENSMUSG00000034501 |
| Gene Name |
pecanex homolog 4 |
| Synonyms |
Pcnxl4, 1810048J11Rik |
| MMRRC Submission |
038963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R0783 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72583157-72626893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72622252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1074
(W1074R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044352]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044352
AA Change: W1074R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: W1074R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
247 |
264 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
330 |
N/A |
INTRINSIC |
|
transmembrane domain
|
368 |
390 |
N/A |
INTRINSIC |
|
transmembrane domain
|
400 |
417 |
N/A |
INTRINSIC |
|
transmembrane domain
|
454 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
transmembrane domain
|
546 |
564 |
N/A |
INTRINSIC |
|
transmembrane domain
|
577 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
670 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
Pfam:Pecanex_C
|
999 |
1174 |
4.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222413
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,415,601 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
G |
A |
7: 119,172,340 (GRCm39) |
G61D |
probably damaging |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Bbs9 |
T |
C |
9: 22,479,010 (GRCm39) |
L151S |
possibly damaging |
Het |
| Camk2g |
T |
A |
14: 20,794,704 (GRCm39) |
T173S |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,405,592 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
C |
4: 129,485,869 (GRCm39) |
F319V |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,130,655 (GRCm39) |
L672P |
probably damaging |
Het |
| Fam110d |
G |
A |
4: 133,979,368 (GRCm39) |
R37C |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,289 (GRCm39) |
A3441V |
probably damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,334,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Hdac1 |
T |
C |
4: 129,411,902 (GRCm39) |
N331S |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,525,824 (GRCm39) |
G3300S |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,053,071 (GRCm39) |
E400G |
probably damaging |
Het |
| Irx2 |
T |
C |
13: 72,780,769 (GRCm39) |
|
probably null |
Het |
| Itih4 |
G |
A |
14: 30,617,380 (GRCm39) |
E567K |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,313,596 (GRCm39) |
|
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,451,621 (GRCm39) |
G204E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,517,680 (GRCm39) |
F1843L |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,556,571 (GRCm39) |
V87A |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,870 (GRCm39) |
S34T |
probably benign |
Het |
| Or10q1 |
T |
C |
19: 13,727,040 (GRCm39) |
L190P |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,987,235 (GRCm39) |
C95S |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,646 (GRCm39) |
I52V |
probably benign |
Het |
| Or52s1 |
T |
C |
7: 102,861,877 (GRCm39) |
F259S |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,532 (GRCm39) |
L147* |
probably null |
Het |
| Or8h9 |
A |
G |
2: 86,788,906 (GRCm39) |
C299R |
probably benign |
Het |
| Pcsk9 |
T |
C |
4: 106,307,314 (GRCm39) |
T310A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,891,347 (GRCm39) |
L250P |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,196,964 (GRCm39) |
D352E |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,586,672 (GRCm39) |
|
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,923 (GRCm39) |
I68T |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,317 (GRCm39) |
T810A |
possibly damaging |
Het |
| Tmprss7 |
G |
A |
16: 45,487,969 (GRCm39) |
Q487* |
probably null |
Het |
| Tnf |
A |
G |
17: 35,420,650 (GRCm39) |
I56T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,570,458 (GRCm39) |
S1163T |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,573,874 (GRCm39) |
T23927I |
probably damaging |
Het |
| Urb1 |
G |
A |
16: 90,607,185 (GRCm39) |
A15V |
possibly damaging |
Het |
| Zfp128 |
C |
T |
7: 12,624,199 (GRCm39) |
P189L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,162,268 (GRCm39) |
V806A |
probably damaging |
Het |
|
| Other mutations in Pcnx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Pcnx4
|
APN |
12 |
72,626,139 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01160:Pcnx4
|
APN |
12 |
72,626,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Pcnx4
|
APN |
12 |
72,620,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01452:Pcnx4
|
APN |
12 |
72,621,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01984:Pcnx4
|
APN |
12 |
72,621,183 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02073:Pcnx4
|
APN |
12 |
72,621,102 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02726:Pcnx4
|
APN |
12 |
72,620,986 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02824:Pcnx4
|
APN |
12 |
72,602,345 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0007:Pcnx4
|
UTSW |
12 |
72,602,353 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0158:Pcnx4
|
UTSW |
12 |
72,603,076 (GRCm39) |
missense |
probably benign |
|
|
R0575:Pcnx4
|
UTSW |
12 |
72,614,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1420:Pcnx4
|
UTSW |
12 |
72,602,760 (GRCm39) |
missense |
probably benign |
|
|
R1497:Pcnx4
|
UTSW |
12 |
72,621,174 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2093:Pcnx4
|
UTSW |
12 |
72,626,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Pcnx4
|
UTSW |
12 |
72,620,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2287:Pcnx4
|
UTSW |
12 |
72,622,172 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2418:Pcnx4
|
UTSW |
12 |
72,603,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Pcnx4
|
UTSW |
12 |
72,588,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Pcnx4
|
UTSW |
12 |
72,613,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Pcnx4
|
UTSW |
12 |
72,613,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Pcnx4
|
UTSW |
12 |
72,603,573 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3691:Pcnx4
|
UTSW |
12 |
72,620,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Pcnx4
|
UTSW |
12 |
72,613,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Pcnx4
|
UTSW |
12 |
72,603,076 (GRCm39) |
missense |
probably benign |
|
|
R4065:Pcnx4
|
UTSW |
12 |
72,603,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4757:Pcnx4
|
UTSW |
12 |
72,603,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4804:Pcnx4
|
UTSW |
12 |
72,620,976 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4867:Pcnx4
|
UTSW |
12 |
72,620,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4879:Pcnx4
|
UTSW |
12 |
72,613,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Pcnx4
|
UTSW |
12 |
72,620,855 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5350:Pcnx4
|
UTSW |
12 |
72,626,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5504:Pcnx4
|
UTSW |
12 |
72,621,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Pcnx4
|
UTSW |
12 |
72,613,968 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5943:Pcnx4
|
UTSW |
12 |
72,626,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6195:Pcnx4
|
UTSW |
12 |
72,603,648 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7134:Pcnx4
|
UTSW |
12 |
72,613,750 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7695:Pcnx4
|
UTSW |
12 |
72,588,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7837:Pcnx4
|
UTSW |
12 |
72,602,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Pcnx4
|
UTSW |
12 |
72,602,842 (GRCm39) |
missense |
probably benign |
|
|
R8153:Pcnx4
|
UTSW |
12 |
72,603,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8174:Pcnx4
|
UTSW |
12 |
72,603,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Pcnx4
|
UTSW |
12 |
72,603,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Pcnx4
|
UTSW |
12 |
72,613,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Pcnx4
|
UTSW |
12 |
72,620,985 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8545:Pcnx4
|
UTSW |
12 |
72,602,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9018:Pcnx4
|
UTSW |
12 |
72,603,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Pcnx4
|
UTSW |
12 |
72,603,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Pcnx4
|
UTSW |
12 |
72,613,671 (GRCm39) |
missense |
probably benign |
|
|
R9233:Pcnx4
|
UTSW |
12 |
72,603,587 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9378:Pcnx4
|
UTSW |
12 |
72,602,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9503:Pcnx4
|
UTSW |
12 |
72,588,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Pcnx4
|
UTSW |
12 |
72,622,282 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9670:Pcnx4
|
UTSW |
12 |
72,613,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9719:Pcnx4
|
UTSW |
12 |
72,603,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Pcnx4
|
UTSW |
12 |
72,603,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Pcnx4
|
UTSW |
12 |
72,603,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTGAGACATGATCCCAGACC -3'
(R):5'- TCACCTGGCAGAAGGAAATGGACC -3'
Sequencing Primer
(F):5'- gtcaccttgccttcgcc -3'
(R):5'- GGACCACTATTTCAAGTTACACTAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation