Incidental Mutation 'IGL01514:Pard6g'
ID |
89317 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pard6g
|
Ensembl Gene |
ENSMUSG00000056214 |
Gene Name |
par-6 family cell polarity regulator gamma |
Synonyms |
2410049N21Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.377)
|
Stock # |
IGL01514
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
80090105-80162854 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80160661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 258
(R258H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070219]
|
AlphaFold |
Q9JK84 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070219
AA Change: R258H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069182 Gene: ENSMUSG00000056214 AA Change: R258H
Domain | Start | End | E-Value | Type |
PB1
|
18 |
98 |
1.16e-16 |
SMART |
PDZ
|
168 |
251 |
8.6e-14 |
SMART |
|
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 |
Accs |
A |
G |
2: 93,669,587 (GRCm39) |
|
probably benign |
Het |
Actl7b |
T |
C |
4: 56,740,677 (GRCm39) |
Y227C |
probably damaging |
Het |
Adam26a |
A |
T |
8: 44,021,485 (GRCm39) |
H668Q |
probably benign |
Het |
Alcam |
A |
T |
16: 52,094,653 (GRCm39) |
|
probably benign |
Het |
Aldh3a2 |
C |
T |
11: 61,144,624 (GRCm39) |
|
probably benign |
Het |
Atp11b |
G |
T |
3: 35,891,130 (GRCm39) |
G801V |
probably damaging |
Het |
C3 |
G |
A |
17: 57,522,866 (GRCm39) |
T1006I |
probably benign |
Het |
Cacna2d4 |
T |
C |
6: 119,259,134 (GRCm39) |
|
probably benign |
Het |
Cldn34b3 |
A |
T |
X: 75,310,680 (GRCm39) |
I83F |
probably damaging |
Het |
Clec2g |
G |
A |
6: 128,925,736 (GRCm39) |
M48I |
probably benign |
Het |
Coch |
A |
G |
12: 51,650,136 (GRCm39) |
D375G |
probably damaging |
Het |
Erbb2 |
C |
T |
11: 98,323,745 (GRCm39) |
T653I |
possibly damaging |
Het |
Etv3 |
A |
G |
3: 87,443,025 (GRCm39) |
H203R |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,003,683 (GRCm39) |
R1801G |
possibly damaging |
Het |
Gars1 |
T |
A |
6: 55,042,505 (GRCm39) |
S413T |
probably benign |
Het |
Gnat1 |
G |
A |
9: 107,553,500 (GRCm39) |
R253C |
possibly damaging |
Het |
Hook3 |
A |
T |
8: 26,578,217 (GRCm39) |
L91I |
possibly damaging |
Het |
Lrp8 |
T |
C |
4: 107,712,881 (GRCm39) |
Y377H |
probably damaging |
Het |
Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
Malt1 |
A |
G |
18: 65,609,471 (GRCm39) |
D825G |
possibly damaging |
Het |
Nlrp9b |
T |
C |
7: 19,779,859 (GRCm39) |
|
probably null |
Het |
Or1x2 |
C |
T |
11: 50,918,416 (GRCm39) |
R196* |
probably null |
Het |
Or2v2 |
A |
T |
11: 49,004,403 (GRCm39) |
I50N |
probably damaging |
Het |
Orc1 |
A |
G |
4: 108,459,249 (GRCm39) |
R473G |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,702,264 (GRCm39) |
D1224G |
possibly damaging |
Het |
Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
Pycr3 |
T |
C |
15: 75,788,853 (GRCm39) |
T240A |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,766,442 (GRCm39) |
G1284V |
probably damaging |
Het |
Rcl1 |
T |
C |
19: 29,120,698 (GRCm39) |
|
probably benign |
Het |
Sec24c |
C |
T |
14: 20,732,839 (GRCm39) |
T134I |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,843,253 (GRCm39) |
|
probably benign |
Het |
Susd5 |
A |
C |
9: 113,897,947 (GRCm39) |
|
probably benign |
Het |
Tlk1 |
T |
C |
2: 70,582,610 (GRCm39) |
N173S |
probably benign |
Het |
Uroc1 |
T |
C |
6: 90,340,082 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pard6g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01024:Pard6g
|
APN |
18 |
80,123,037 (GRCm39) |
splice site |
probably benign |
|
IGL01519:Pard6g
|
APN |
18 |
80,123,071 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02305:Pard6g
|
APN |
18 |
80,160,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03115:Pard6g
|
APN |
18 |
80,123,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Pard6g
|
UTSW |
18 |
80,160,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0604:Pard6g
|
UTSW |
18 |
80,160,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R0938:Pard6g
|
UTSW |
18 |
80,123,259 (GRCm39) |
nonsense |
probably null |
|
R1730:Pard6g
|
UTSW |
18 |
80,123,040 (GRCm39) |
missense |
probably damaging |
0.97 |
R1783:Pard6g
|
UTSW |
18 |
80,123,040 (GRCm39) |
missense |
probably damaging |
0.97 |
R1785:Pard6g
|
UTSW |
18 |
80,160,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R1786:Pard6g
|
UTSW |
18 |
80,160,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R1851:Pard6g
|
UTSW |
18 |
80,160,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Pard6g
|
UTSW |
18 |
80,160,940 (GRCm39) |
missense |
probably benign |
0.00 |
R2132:Pard6g
|
UTSW |
18 |
80,160,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R2133:Pard6g
|
UTSW |
18 |
80,160,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R3778:Pard6g
|
UTSW |
18 |
80,123,038 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5282:Pard6g
|
UTSW |
18 |
80,123,116 (GRCm39) |
missense |
probably benign |
0.01 |
R6084:Pard6g
|
UTSW |
18 |
80,160,420 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6913:Pard6g
|
UTSW |
18 |
80,160,534 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7124:Pard6g
|
UTSW |
18 |
80,160,340 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8109:Pard6g
|
UTSW |
18 |
80,160,658 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8469:Pard6g
|
UTSW |
18 |
80,090,347 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8903:Pard6g
|
UTSW |
18 |
80,160,411 (GRCm39) |
nonsense |
probably null |
|
R8915:Pard6g
|
UTSW |
18 |
80,160,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R9077:Pard6g
|
UTSW |
18 |
80,160,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-03 |