Incidental Mutation 'IGL02618:Plxdc1'
ID |
300750 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plxdc1
|
Ensembl Gene |
ENSMUSG00000017417 |
Gene Name |
plexin domain containing 1 |
Synonyms |
Tem7, 2410003I07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
IGL02618
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
97814064-97877270 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97823130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 370
(D370E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017561]
[ENSMUST00000107565]
|
AlphaFold |
Q91ZV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017561
AA Change: D363E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000017561 Gene: ENSMUSG00000017417 AA Change: D363E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PSI
|
304 |
349 |
5.98e-2 |
SMART |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107565
AA Change: D370E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103191 Gene: ENSMUSG00000017417 AA Change: D370E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PSI
|
311 |
356 |
5.98e-2 |
SMART |
transmembrane domain
|
432 |
454 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141708
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
G |
A |
12: 55,104,086 (GRCm39) |
Q178* |
probably null |
Het |
Adgre1 |
T |
A |
17: 57,751,021 (GRCm39) |
V565E |
possibly damaging |
Het |
Arfgef2 |
C |
A |
2: 166,695,233 (GRCm39) |
N535K |
probably damaging |
Het |
Bbx |
A |
G |
16: 50,068,161 (GRCm39) |
L161S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,199,274 (GRCm39) |
S224P |
probably damaging |
Het |
Car2 |
A |
G |
3: 14,963,032 (GRCm39) |
D189G |
probably benign |
Het |
Catsperb |
A |
T |
12: 101,446,983 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
C |
T |
12: 100,879,812 (GRCm39) |
V1770I |
probably benign |
Het |
Cebpe |
T |
C |
14: 54,948,234 (GRCm39) |
D203G |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,197,422 (GRCm39) |
N104S |
probably damaging |
Het |
Clec2i |
G |
A |
6: 128,873,464 (GRCm39) |
C231Y |
probably damaging |
Het |
Col4a5 |
C |
T |
X: 140,466,678 (GRCm39) |
P1557S |
probably damaging |
Het |
Creb3l1 |
T |
C |
2: 91,813,543 (GRCm39) |
N498S |
probably benign |
Het |
Ctnnal1 |
A |
T |
4: 56,817,060 (GRCm39) |
D587E |
probably benign |
Het |
Dnmt3l |
T |
C |
10: 77,889,856 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
G |
4: 98,971,265 (GRCm39) |
V100A |
probably benign |
Het |
Frk |
C |
T |
10: 34,459,960 (GRCm39) |
T185I |
possibly damaging |
Het |
Frmd4b |
G |
A |
6: 97,285,066 (GRCm39) |
Q340* |
probably null |
Het |
Lima1 |
C |
A |
15: 99,700,097 (GRCm39) |
|
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,882,486 (GRCm39) |
L522P |
probably damaging |
Het |
Ndrg1 |
G |
A |
15: 66,812,086 (GRCm39) |
H202Y |
probably benign |
Het |
Nxpe2 |
T |
G |
9: 48,237,634 (GRCm39) |
N207T |
probably damaging |
Het |
Or5ac19 |
A |
T |
16: 59,089,290 (GRCm39) |
S247T |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 59,186,068 (GRCm39) |
|
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,105,969 (GRCm39) |
D75G |
probably damaging |
Het |
Polb |
A |
T |
8: 23,127,109 (GRCm39) |
L228Q |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,983,938 (GRCm39) |
I521N |
possibly damaging |
Het |
Rapgef1 |
A |
G |
2: 29,627,955 (GRCm39) |
D1045G |
probably damaging |
Het |
Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Src |
A |
T |
2: 157,306,698 (GRCm39) |
K234* |
probably null |
Het |
Stk36 |
C |
A |
1: 74,670,834 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,038,388 (GRCm39) |
C412F |
probably benign |
Het |
Zfp58 |
A |
G |
13: 67,639,475 (GRCm39) |
F339L |
possibly damaging |
Het |
|
Other mutations in Plxdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01896:Plxdc1
|
APN |
11 |
97,815,408 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02490:Plxdc1
|
APN |
11 |
97,845,604 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02568:Plxdc1
|
APN |
11 |
97,869,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03169:Plxdc1
|
APN |
11 |
97,823,146 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0200:Plxdc1
|
UTSW |
11 |
97,824,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R0627:Plxdc1
|
UTSW |
11 |
97,823,030 (GRCm39) |
splice site |
probably null |
|
R1510:Plxdc1
|
UTSW |
11 |
97,823,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Plxdc1
|
UTSW |
11 |
97,824,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R5334:Plxdc1
|
UTSW |
11 |
97,846,931 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6084:Plxdc1
|
UTSW |
11 |
97,819,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Plxdc1
|
UTSW |
11 |
97,846,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R6305:Plxdc1
|
UTSW |
11 |
97,829,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R7224:Plxdc1
|
UTSW |
11 |
97,823,153 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7574:Plxdc1
|
UTSW |
11 |
97,847,316 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7633:Plxdc1
|
UTSW |
11 |
97,846,977 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7909:Plxdc1
|
UTSW |
11 |
97,823,130 (GRCm39) |
missense |
probably benign |
|
R8056:Plxdc1
|
UTSW |
11 |
97,869,343 (GRCm39) |
missense |
probably damaging |
0.99 |
R8536:Plxdc1
|
UTSW |
11 |
97,869,522 (GRCm39) |
splice site |
probably null |
|
R8754:Plxdc1
|
UTSW |
11 |
97,846,337 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8796:Plxdc1
|
UTSW |
11 |
97,847,407 (GRCm39) |
missense |
probably benign |
0.02 |
R9189:Plxdc1
|
UTSW |
11 |
97,844,788 (GRCm39) |
missense |
probably benign |
|
R9450:Plxdc1
|
UTSW |
11 |
97,845,681 (GRCm39) |
missense |
probably damaging |
0.98 |
R9583:Plxdc1
|
UTSW |
11 |
97,824,844 (GRCm39) |
missense |
probably damaging |
1.00 |
RF007:Plxdc1
|
UTSW |
11 |
97,869,504 (GRCm39) |
missense |
probably benign |
0.30 |
|
Posted On |
2015-04-16 |