Incidental Mutation 'R0604:Pard6g'
ID |
55609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pard6g
|
Ensembl Gene |
ENSMUSG00000056214 |
Gene Name |
par-6 family cell polarity regulator gamma |
Synonyms |
2410049N21Rik |
MMRRC Submission |
038793-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.377)
|
Stock # |
R0604 (G1)
|
Quality Score |
182 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
80090105-80162854 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80160423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 179
(S179G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070219]
|
AlphaFold |
Q9JK84 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070219
AA Change: S179G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069182 Gene: ENSMUSG00000056214 AA Change: S179G
Domain | Start | End | E-Value | Type |
PB1
|
18 |
98 |
1.16e-16 |
SMART |
PDZ
|
168 |
251 |
8.6e-14 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,775,451 (GRCm39) |
E302G |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adrb2 |
G |
A |
18: 62,311,586 (GRCm39) |
T413I |
possibly damaging |
Het |
Aqr |
T |
C |
2: 113,961,085 (GRCm39) |
K725R |
probably benign |
Het |
Braf |
A |
G |
6: 39,600,631 (GRCm39) |
I662T |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,500 (GRCm39) |
S435P |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,763,170 (GRCm39) |
M2332V |
possibly damaging |
Het |
Clgn |
T |
C |
8: 84,150,823 (GRCm39) |
V496A |
probably benign |
Het |
Dnah17 |
A |
C |
11: 118,012,297 (GRCm39) |
S193R |
probably benign |
Het |
Dntt |
A |
G |
19: 41,041,588 (GRCm39) |
E424G |
probably benign |
Het |
Fam149a |
A |
G |
8: 45,798,045 (GRCm39) |
L492P |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,410 (GRCm39) |
Y126H |
possibly damaging |
Het |
Fgfr3 |
A |
T |
5: 33,890,126 (GRCm39) |
Y96F |
probably damaging |
Het |
Gm4952 |
A |
G |
19: 12,602,036 (GRCm39) |
E148G |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,191,519 (GRCm39) |
L977F |
probably benign |
Het |
Il1r1 |
T |
C |
1: 40,321,406 (GRCm39) |
V6A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,708,189 (GRCm39) |
Q832K |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,425 (GRCm39) |
F1014Y |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,606,823 (GRCm39) |
A536V |
probably damaging |
Het |
Mtrf1 |
T |
C |
14: 79,653,327 (GRCm39) |
V334A |
possibly damaging |
Het |
Or1j21 |
T |
A |
2: 36,684,119 (GRCm39) |
Y290* |
probably null |
Het |
Or2t46 |
T |
A |
11: 58,472,174 (GRCm39) |
M168K |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,727 (GRCm39) |
T184A |
probably benign |
Het |
Pierce1 |
C |
A |
2: 28,356,103 (GRCm39) |
R60L |
possibly damaging |
Het |
Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,997 (GRCm39) |
V402D |
probably damaging |
Het |
Rttn |
A |
G |
18: 88,995,882 (GRCm39) |
I222V |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,103,982 (GRCm39) |
S179T |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,444,407 (GRCm39) |
H184L |
probably damaging |
Het |
Vmn1r69 |
A |
G |
7: 10,314,581 (GRCm39) |
V50A |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,510,000 (GRCm39) |
F526L |
possibly damaging |
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 |
|
IGL01514:Pard6g
|
APN |
18 |
80,160,661 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGACTTGCGGTGGCAGATG -3'
(R):5'- GCGGACCACATTGTTCCTTTGGTTG -3'
Sequencing Primer
(F):5'- TTCTTGGCATCACAGGGAC -3'
(R):5'- CCGGCTTGACAGTGACAATG -3'
|
Posted On |
2013-07-11 |