Incidental Mutation 'R7837:Pcnx4'
| ID |
606060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnx4
|
| Ensembl Gene |
ENSMUSG00000034501 |
| Gene Name |
pecanex homolog 4 |
| Synonyms |
Pcnxl4, 1810048J11Rik |
| MMRRC Submission |
045891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72583157-72626893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72602892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 385
(L385M)
|
| 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: L385M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: L385M
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,344,547 (GRCm39) |
S108P |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,768,830 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
A |
5: 8,199,284 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,167,915 (GRCm39) |
Y1007C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 53,016,550 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,882,584 (GRCm39) |
Y153* |
probably null |
Het |
| Armc1 |
A |
T |
3: 19,198,633 (GRCm39) |
I109N |
probably benign |
Het |
| Bcl2 |
A |
C |
1: 106,471,086 (GRCm39) |
F207V |
possibly damaging |
Het |
| Btd |
C |
A |
14: 31,388,784 (GRCm39) |
S168R |
possibly damaging |
Het |
| Cage1 |
A |
T |
13: 38,206,381 (GRCm39) |
M488K |
not run |
Het |
| Cemip2 |
T |
A |
19: 21,775,385 (GRCm39) |
D209E |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,796,185 (GRCm39) |
N224S |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,756,330 (GRCm39) |
V81A |
|
Het |
| Crispld1 |
T |
A |
1: 17,798,954 (GRCm39) |
V25E |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,518,176 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,751,896 (GRCm39) |
N675I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,405 (GRCm39) |
E163G |
probably benign |
Het |
| Ecd |
A |
T |
14: 20,383,400 (GRCm39) |
F346L |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,014,363 (GRCm39) |
V545M |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,276,134 (GRCm39) |
Y1597F |
possibly damaging |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gria2 |
A |
T |
3: 80,618,095 (GRCm39) |
N313K |
probably benign |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,793 (GRCm39) |
S30F |
possibly damaging |
Het |
| Kcnh6 |
C |
A |
11: 105,924,636 (GRCm39) |
H867N |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,792 (GRCm39) |
Q196R |
possibly damaging |
Het |
| Mbd4 |
T |
C |
6: 115,826,500 (GRCm39) |
N164D |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,076 (GRCm39) |
M201K |
possibly damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,094 (GRCm39) |
G283E |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,034,873 (GRCm39) |
C426Y |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,369,700 (GRCm39) |
H3149R |
possibly damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,074,146 (GRCm39) |
M156V |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or13a21 |
T |
C |
7: 139,999,234 (GRCm39) |
I151V |
probably benign |
Het |
| Or4c102 |
A |
T |
2: 88,422,723 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,033 (GRCm39) |
T276S |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,156,052 (GRCm39) |
C34S |
possibly damaging |
Het |
| Pakap |
A |
G |
4: 57,855,262 (GRCm39) |
D197G |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,262 (GRCm39) |
M302K |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,366,976 (GRCm39) |
C197S |
probably damaging |
Het |
| Rin3 |
A |
G |
12: 102,335,024 (GRCm39) |
T312A |
unknown |
Het |
| Septin7 |
T |
A |
9: 25,199,531 (GRCm39) |
N143K |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,845,216 (GRCm39) |
K208E |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,238,539 (GRCm39) |
T236S |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,088,832 (GRCm39) |
L810P |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,146 (GRCm39) |
S3468G |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,201,300 (GRCm39) |
S169G |
probably benign |
Het |
| Tex56 |
A |
T |
13: 35,128,359 (GRCm39) |
Q192L |
possibly damaging |
Het |
| Tssk2 |
T |
C |
16: 17,716,615 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,720,916 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,120,462 (GRCm39) |
R296* |
probably null |
Het |
| Wscd2 |
G |
T |
5: 113,710,394 (GRCm39) |
C306F |
probably damaging |
Het |
| Zbtb43 |
C |
T |
2: 33,343,981 (GRCm39) |
G378R |
probably damaging |
Het |
| Zdhhc12 |
A |
T |
2: 29,981,709 (GRCm39) |
V165E |
probably damaging |
Het |
| Zfp59 |
GAAA |
GAAAAA |
7: 27,554,342 (GRCm39) |
|
probably null |
Het |
| Zfp943 |
A |
T |
17: 22,211,346 (GRCm39) |
Y144F |
probably benign |
Het |
| Zkscan8 |
T |
A |
13: 21,704,598 (GRCm39) |
N447I |
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 |
|
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'- CTGGACTCGGGTTCTTACTG -3'
(R):5'- GCACCAATCTTCAGGAGCTTG -3'
Sequencing Primer
(F):5'- CTGAGTCTTAACCCAAGTGACGTG -3'
(R):5'- TTGTCATAGAATACAGACACAGCGTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation