Incidental Mutation 'R7521:Phax'
| ID |
582687 |
| 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 |
045593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R7521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
56695641-56720784 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 56708990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 185
(Q185*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008445]
[ENSMUST00000130163]
[ENSMUST00000174518]
|
| AlphaFold |
Q9JJT9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000008445
AA Change: Q185*
|
| SMART Domains |
Protein: ENSMUSP00000008445
Gene: ENSMUSG00000008301
AA Change: Q185*
| 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 null
Transcript: ENSMUST00000130163
AA Change: Q163*
|
| SMART Domains |
Protein: ENSMUSP00000122948
Gene: ENSMUSG00000008301
AA Change: Q163*
| 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 null
Transcript: ENSMUST00000132628
AA Change: Q167*
|
| SMART Domains |
Protein: ENSMUSP00000119047
Gene: ENSMUSG00000008301
AA Change: Q167*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
A |
G |
17: 31,283,543 (GRCm39) |
N76S |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,979,715 (GRCm39) |
V333A |
possibly damaging |
Het |
| Arid1b |
GGCGGC |
GGCGGCAGCGGC |
17: 5,046,135 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,392,865 (GRCm39) |
T2079A |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,507,674 (GRCm39) |
*190R |
probably null |
Het |
| Cntnap3 |
G |
T |
13: 64,919,815 (GRCm39) |
Q681K |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,449,346 (GRCm39) |
D689G |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,880,663 (GRCm39) |
S2645T |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 161,962,113 (GRCm39) |
L32H |
probably damaging |
Het |
| Dtx4 |
T |
C |
19: 12,469,861 (GRCm39) |
K89E |
probably benign |
Het |
| Exph5 |
T |
A |
9: 53,285,377 (GRCm39) |
N819K |
possibly damaging |
Het |
| Fpgt |
A |
G |
3: 154,792,765 (GRCm39) |
S421P |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,382 (GRCm39) |
V22A |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,213 (GRCm39) |
R544Q |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,480 (GRCm39) |
L590Q |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,935,344 (GRCm39) |
D172G |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,470,261 (GRCm39) |
N283I |
probably damaging |
Het |
| Igsf11 |
C |
T |
16: 38,829,274 (GRCm39) |
T115M |
probably damaging |
Het |
| Il17rd |
T |
A |
14: 26,816,823 (GRCm39) |
M320K |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,409,148 (GRCm39) |
C1610* |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,241,412 (GRCm39) |
I175L |
probably benign |
Het |
| Mif |
A |
T |
10: 75,695,942 (GRCm39) |
S21T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,514,792 (GRCm39) |
Q542R |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,530,870 (GRCm39) |
E1389D |
probably damaging |
Het |
| Or55b3 |
C |
T |
7: 102,126,402 (GRCm39) |
R225H |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,257 (GRCm39) |
I272V |
probably benign |
Het |
| Or5t16 |
T |
A |
2: 86,818,954 (GRCm39) |
T189S |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,036 (GRCm39) |
I181T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,432,196 (GRCm39) |
D1473V |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 43,192,242 (GRCm39) |
S22C |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,597,090 (GRCm39) |
F153L |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,805,710 (GRCm39) |
S154P |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,241,763 (GRCm39) |
T121I |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,665,268 (GRCm39) |
V488A |
possibly damaging |
Het |
| Tdrp |
G |
A |
8: 14,003,831 (GRCm39) |
Q169* |
probably null |
Het |
| Tmem30b |
C |
T |
12: 73,592,092 (GRCm39) |
R341H |
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 |
|
R2974:Phax
|
UTSW |
18 |
56,706,134 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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'- CGGCATCTTGGGAATGGAAG -3'
(R):5'- TGCCCTGGGTTAATTCCATTAAG -3'
Sequencing Primer
(F):5'- CATCTTGGGAATGGAAGGCTCC -3'
(R):5'- ATACAGAGGGACCCTGTCTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation