Incidental Mutation 'R2974:Phax'
| ID |
255336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phax
|
| Ensembl Gene |
ENSMUSG00000008301 |
| Gene Name |
phosphorylated adaptor for RNA export |
| Synonyms |
Rnuxa, Phax, 4933427L19Rik, D18Ertd65e, p55, 2810055C14Rik, phosphorylation regulated |
| MMRRC Submission |
040527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R2974 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
56695641-56720784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56706134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 8
(M8K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008445]
[ENSMUST00000130163]
[ENSMUST00000174518]
|
| AlphaFold |
Q9JJT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008445
AA Change: M8K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000008445
Gene: ENSMUSG00000008301
AA Change: M8K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
153 |
N/A |
INTRINSIC |
|
Pfam:RNA_GG_bind
|
221 |
304 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130163
|
| SMART Domains |
Protein: ENSMUSP00000122948
Gene: ENSMUSG00000008301
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
131 |
N/A |
INTRINSIC |
|
Pfam:RNA_GG_bind
|
199 |
282 |
2.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132628
|
| SMART Domains |
Protein: ENSMUSP00000119047
Gene: ENSMUSG00000008301
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
136 |
N/A |
INTRINSIC |
|
Pfam:RNA_GG_bind
|
204 |
251 |
3.1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174518
|
| SMART Domains |
Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
31 |
494 |
7.3e-130 |
PFAM |
|
| Meta Mutation Damage Score |
0.1065 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
| Med15 |
T |
C |
16: 17,470,575 (GRCm39) |
Y744C |
probably damaging |
Het |
| Nlrp4d |
A |
G |
7: 10,112,367 (GRCm39) |
|
probably benign |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
| Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tnip1 |
C |
T |
11: 54,824,809 (GRCm39) |
|
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
| Other mutations in Phax |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02622:Phax
|
APN |
18 |
56,717,372 (GRCm39) |
nonsense |
probably null |
|
|
IGL03179:Phax
|
APN |
18 |
56,713,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Phax
|
UTSW |
18 |
56,695,785 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1869:Phax
|
UTSW |
18 |
56,706,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2507:Phax
|
UTSW |
18 |
56,719,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4079:Phax
|
UTSW |
18 |
56,709,051 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4945:Phax
|
UTSW |
18 |
56,709,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5526:Phax
|
UTSW |
18 |
56,717,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Phax
|
UTSW |
18 |
56,708,564 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5990:Phax
|
UTSW |
18 |
56,708,675 (GRCm39) |
missense |
probably benign |
|
|
R6341:Phax
|
UTSW |
18 |
56,706,173 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6524:Phax
|
UTSW |
18 |
56,720,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7521:Phax
|
UTSW |
18 |
56,708,990 (GRCm39) |
nonsense |
probably null |
|
|
R8219:Phax
|
UTSW |
18 |
56,708,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Phax
|
UTSW |
18 |
56,720,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCCGAATGCCTTACCTTC -3'
(R):5'- ACTCAGTGCATTCCGGATC -3'
Sequencing Primer
(F):5'- GAATGCCTTACCTTCCTTGGGG -3'
(R):5'- TGCATTCCGGATCCCGCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation