Incidental Mutation 'R9719:Pcnx4'
| ID |
730681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnx4
|
| Ensembl Gene |
ENSMUSG00000034501 |
| Gene Name |
pecanex homolog 4 |
| Synonyms |
Pcnxl4, 1810048J11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R9719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72583157-72626893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72603039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 434
(Y434H)
|
| 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: Y434H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: Y434H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
A |
1: 87,016,136 (GRCm39) |
Q241L |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,464 (GRCm39) |
N4144K |
probably benign |
Het |
| B4gat1 |
A |
G |
19: 5,090,516 (GRCm39) |
H413R |
probably benign |
Het |
| Ccdc179 |
T |
C |
7: 51,664,612 (GRCm39) |
T28A |
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,835 (GRCm39) |
D735A |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,949,432 (GRCm39) |
D27N |
unknown |
Het |
| Colgalt1 |
A |
G |
8: 72,073,456 (GRCm39) |
E359G |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,793,148 (GRCm39) |
I261N |
probably benign |
Het |
| Cyyr1 |
A |
T |
16: 85,219,203 (GRCm39) |
L68Q |
unknown |
Het |
| Dgkz |
T |
A |
2: 91,768,911 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,867,912 (GRCm39) |
E3947V |
unknown |
Het |
| Eif2ak2 |
C |
A |
17: 79,162,783 (GRCm39) |
D472Y |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,755,539 (GRCm39) |
T429A |
possibly damaging |
Het |
| Fen1 |
G |
A |
19: 10,178,016 (GRCm39) |
H143Y |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,113 (GRCm39) |
R58S |
unknown |
Het |
| Hspa1b |
T |
C |
17: 35,176,467 (GRCm39) |
D506G |
probably damaging |
Het |
| Inhca |
G |
T |
9: 103,132,014 (GRCm39) |
P569H |
probably benign |
Het |
| Kcna7 |
A |
G |
7: 45,056,390 (GRCm39) |
D202G |
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mal |
C |
T |
2: 127,498,025 (GRCm39) |
S10N |
possibly damaging |
Het |
| Mgat2 |
T |
A |
12: 69,232,115 (GRCm39) |
W230R |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,436,493 (GRCm39) |
T883S |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,249,526 (GRCm39) |
S277P |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,916,091 (GRCm39) |
W341* |
probably null |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,454 (GRCm39) |
M292R |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,180,146 (GRCm39) |
I225L |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,368 (GRCm39) |
S65P |
probably damaging |
Het |
| Or5d46 |
T |
A |
2: 88,169,928 (GRCm39) |
N6K |
|
Het |
| Or5g26 |
T |
A |
2: 85,494,608 (GRCm39) |
I57F |
probably benign |
Het |
| Or6z1 |
C |
A |
7: 6,504,999 (GRCm39) |
M75I |
probably benign |
Het |
| Ptpn14 |
T |
A |
1: 189,583,484 (GRCm39) |
M777K |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,688,102 (GRCm39) |
I17T |
possibly damaging |
Het |
| Rptor |
A |
T |
11: 119,781,940 (GRCm39) |
D1089V |
probably benign |
Het |
| Scel |
A |
T |
14: 103,809,442 (GRCm39) |
|
probably null |
Het |
| Scfd2 |
A |
T |
5: 74,386,004 (GRCm39) |
L605Q |
probably damaging |
Het |
| Son |
A |
G |
16: 91,456,440 (GRCm39) |
E1729G |
probably damaging |
Het |
| Spata31e2 |
C |
G |
1: 26,722,820 (GRCm39) |
E787Q |
probably benign |
Het |
| Spout1 |
A |
G |
2: 30,065,813 (GRCm39) |
Y243H |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,276,601 (GRCm39) |
F1765S |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,191,803 (GRCm39) |
V877E |
possibly damaging |
Het |
| Txn2 |
T |
C |
15: 77,812,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,331 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,449 (GRCm39) |
T53I |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,127,553 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps25 |
A |
G |
11: 101,146,853 (GRCm39) |
D91G |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,015,224 (GRCm39) |
L396F |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,304 (GRCm39) |
C665S |
possibly damaging |
Het |
| Zfp26 |
T |
C |
9: 20,347,861 (GRCm39) |
E901G |
possibly 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 |
|
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 |
|
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'- GAGTGCTTTCTGTTCATCGC -3'
(R):5'- TGGGCACATTTAAGCAATTAGC -3'
Sequencing Primer
(F):5'- CATCGCTGTGCTGGGCATG -3'
(R):5'- AGCTGAAAAGCTAATAAACAACAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation