Incidental Mutation 'IGL02726:Pcnx4'
| ID |
305220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcnx4
|
| Ensembl Gene |
ENSMUSG00000034501 |
| Gene Name |
pecanex homolog 4 |
| Synonyms |
Pcnxl4, 1810048J11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL02726
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
72583157-72626893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72620986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 935
(M935I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044352]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044352
AA Change: M935I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: M935I
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
T |
2: 128,501,705 (GRCm39) |
M779K |
probably benign |
Het |
| Art1 |
G |
A |
7: 101,759,955 (GRCm39) |
V85M |
probably damaging |
Het |
| Atad2b |
G |
T |
12: 5,024,003 (GRCm39) |
E43* |
probably null |
Het |
| Clec4a4 |
A |
T |
6: 122,967,338 (GRCm39) |
I5F |
probably damaging |
Het |
| Cr1l |
A |
T |
1: 194,812,188 (GRCm39) |
I45N |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,676,140 (GRCm39) |
|
probably benign |
Het |
| Dnajb3 |
A |
T |
1: 88,133,372 (GRCm39) |
V10E |
probably damaging |
Het |
| Dnajc22 |
A |
T |
15: 98,998,881 (GRCm39) |
H22L |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,745 (GRCm39) |
V40A |
probably damaging |
Het |
| Dsg1b |
G |
A |
18: 20,532,542 (GRCm39) |
V529I |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,767,878 (GRCm39) |
|
probably null |
Het |
| Fam131c |
T |
A |
4: 141,110,113 (GRCm39) |
D170E |
probably benign |
Het |
| Got1 |
G |
A |
19: 43,488,851 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,349,270 (GRCm39) |
V2043E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,532,445 (GRCm39) |
Y3147* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,455,233 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,272,964 (GRCm39) |
I504N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,277,419 (GRCm39) |
I655T |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,904,457 (GRCm39) |
|
probably null |
Het |
| Mrgprb2 |
T |
A |
7: 48,202,618 (GRCm39) |
R36W |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,077 (GRCm39) |
|
probably null |
Het |
| Or10ak14 |
T |
A |
4: 118,610,961 (GRCm39) |
Y260F |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,691 (GRCm39) |
S87G |
probably benign |
Het |
| Or2ag1b |
A |
C |
7: 106,288,577 (GRCm39) |
Y120* |
probably null |
Het |
| Or8k16 |
G |
T |
2: 85,520,554 (GRCm39) |
L260F |
possibly damaging |
Het |
| Pdgfra |
C |
T |
5: 75,355,618 (GRCm39) |
Q1043* |
probably null |
Het |
| Pf4 |
T |
C |
5: 90,920,523 (GRCm39) |
V28A |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,213,894 (GRCm39) |
L1689P |
probably damaging |
Het |
| Ppa2 |
A |
G |
3: 133,076,222 (GRCm39) |
S284G |
possibly damaging |
Het |
| Pramel22 |
G |
T |
4: 143,381,955 (GRCm39) |
P247H |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,120,355 (GRCm39) |
|
probably null |
Het |
| Rbm25 |
G |
T |
12: 83,719,626 (GRCm39) |
G549W |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,753,206 (GRCm39) |
D1705G |
probably damaging |
Het |
| Shf |
A |
T |
2: 122,189,969 (GRCm39) |
D96E |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,889,169 (GRCm39) |
V481M |
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,672,670 (GRCm39) |
V807A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,062,356 (GRCm39) |
I4226N |
probably damaging |
Het |
| Tex56 |
A |
G |
13: 35,136,943 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
T |
19: 10,573,576 (GRCm39) |
V254E |
possibly damaging |
Het |
| Ubr2 |
A |
C |
17: 47,283,847 (GRCm39) |
Y601D |
probably damaging |
Het |
| Ubr5 |
A |
C |
15: 38,000,806 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,854 (GRCm39) |
I50K |
possibly damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
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 |
|
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 |
|
R0783:Pcnx4
|
UTSW |
12 |
72,622,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation