Incidental Mutation 'R4092:Paip1'
| ID |
317693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paip1
|
| Ensembl Gene |
ENSMUSG00000025451 |
| Gene Name |
polyadenylate binding protein-interacting protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R4092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
119565137-119594754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119586449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 58
(S58A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026520]
[ENSMUST00000109203]
[ENSMUST00000126957]
[ENSMUST00000173627]
[ENSMUST00000174533]
|
| AlphaFold |
Q8VE62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026520
AA Change: S249A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026520
Gene: ENSMUSG00000025451
AA Change: S249A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAM2
|
44 |
61 |
8.9e-8 |
PFAM |
|
MIF4G
|
80 |
297 |
2.62e-46 |
SMART |
|
low complexity region
|
373 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109203
AA Change: S216A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104826
Gene: ENSMUSG00000025451
AA Change: S216A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAM2
|
11 |
28 |
3.7e-7 |
PFAM |
|
MIF4G
|
47 |
264 |
2.62e-46 |
SMART |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126957
AA Change: S333A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117256
Gene: ENSMUSG00000025451
AA Change: S333A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
|
Pfam:PAM2
|
128 |
145 |
3.3e-7 |
PFAM |
|
MIF4G
|
164 |
381 |
2.62e-46 |
SMART |
|
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132304
|
| SMART Domains |
Protein: ENSMUSP00000134617
Gene: ENSMUSG00000025451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
|
Pfam:PAM2
|
128 |
145 |
6.8e-5 |
PFAM |
|
Pfam:MIF4G
|
164 |
267 |
1.9e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173627
AA Change: S249A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134051
Gene: ENSMUSG00000025451
AA Change: S249A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAM2
|
44 |
61 |
3.6e-7 |
PFAM |
|
MIF4G
|
80 |
297 |
2.62e-46 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174533
AA Change: S58A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134365
Gene: ENSMUSG00000025451
AA Change: S58A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIF4G
|
49 |
106 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174691
AA Change: S198A
|
| SMART Domains |
Protein: ENSMUSP00000134502
Gene: ENSMUSG00000025451
AA Change: S198A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAM2
|
36 |
53 |
2.4e-7 |
PFAM |
|
Pfam:MIF4G
|
72 |
207 |
1.6e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.2124 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,055,903 (GRCm39) |
H340Q |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,145,004 (GRCm39) |
I116N |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,678,103 (GRCm39) |
V794E |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,140 (GRCm39) |
S966P |
probably benign |
Het |
| Alox5 |
G |
A |
6: 116,389,635 (GRCm39) |
|
probably benign |
Het |
| Bmerb1 |
G |
A |
16: 13,867,346 (GRCm39) |
R68H |
probably damaging |
Het |
| Brip1 |
C |
T |
11: 86,039,347 (GRCm39) |
D396N |
possibly damaging |
Het |
| Catsper3 |
C |
T |
13: 55,932,484 (GRCm39) |
H4Y |
probably benign |
Het |
| Cmtm2a |
T |
C |
8: 105,019,403 (GRCm39) |
Y62C |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,658,265 (GRCm39) |
C715R |
probably damaging |
Het |
| Dio3 |
A |
G |
12: 110,246,234 (GRCm39) |
D190G |
possibly damaging |
Het |
| Efl1 |
A |
G |
7: 82,412,035 (GRCm39) |
E808G |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,194 (GRCm39) |
N116K |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,943 (GRCm39) |
D720G |
probably benign |
Het |
| Fbp2 |
C |
T |
13: 62,988,174 (GRCm39) |
V246M |
possibly damaging |
Het |
| Gm10197 |
G |
A |
19: 53,360,196 (GRCm39) |
|
probably benign |
Het |
| Icam2 |
C |
A |
11: 106,271,623 (GRCm39) |
M1I |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,351,935 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,771,470 (GRCm39) |
I209T |
probably benign |
Het |
| Lcmt1 |
T |
C |
7: 123,017,476 (GRCm39) |
V200A |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Mmadhc |
A |
G |
2: 50,177,895 (GRCm39) |
M174T |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,799 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,196,405 (GRCm39) |
A340V |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,661,224 (GRCm39) |
D708G |
probably damaging |
Het |
| Noc2l |
A |
C |
4: 156,327,033 (GRCm39) |
T295P |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,809 (GRCm39) |
N702I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,886 (GRCm39) |
M4083L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,790 (GRCm39) |
Y74C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,118 (GRCm39) |
I370N |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,884,775 (GRCm39) |
T476A |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,703,314 (GRCm39) |
R57S |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,640,932 (GRCm39) |
S75P |
probably damaging |
Het |
| Raver1 |
A |
T |
9: 20,992,568 (GRCm39) |
L287Q |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
A |
9: 119,619,036 (GRCm39) |
M769L |
probably benign |
Het |
| Serpina16 |
G |
T |
12: 103,638,836 (GRCm39) |
H250Q |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,437,491 (GRCm39) |
G308D |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,851,893 (GRCm39) |
L673P |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,166 (GRCm39) |
K1036E |
possibly damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sptbn5 |
C |
A |
2: 119,897,532 (GRCm39) |
E550D |
probably damaging |
Het |
| Srgap3 |
G |
T |
6: 112,700,045 (GRCm39) |
P1002T |
probably benign |
Het |
| Tollip |
C |
T |
7: 141,438,180 (GRCm39) |
R181H |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,330,784 (GRCm39) |
S600R |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,281,832 (GRCm39) |
Y315N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,551,037 (GRCm39) |
E367G |
probably benign |
Het |
|
| Other mutations in Paip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02668:Paip1
|
APN |
13 |
119,574,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02873:Paip1
|
APN |
13 |
119,582,348 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0517:Paip1
|
UTSW |
13 |
119,584,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Paip1
|
UTSW |
13 |
119,566,854 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0792:Paip1
|
UTSW |
13 |
119,566,854 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1419:Paip1
|
UTSW |
13 |
119,593,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1572:Paip1
|
UTSW |
13 |
119,588,320 (GRCm39) |
unclassified |
probably benign |
|
|
R1935:Paip1
|
UTSW |
13 |
119,593,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Paip1
|
UTSW |
13 |
119,593,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Paip1
|
UTSW |
13 |
119,566,798 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3827:Paip1
|
UTSW |
13 |
119,566,768 (GRCm39) |
start codon destroyed |
probably null |
0.47 |
|
R4082:Paip1
|
UTSW |
13 |
119,593,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Paip1
|
UTSW |
13 |
119,586,425 (GRCm39) |
splice site |
probably benign |
|
|
R5012:Paip1
|
UTSW |
13 |
119,584,338 (GRCm39) |
missense |
probably benign |
|
|
R5103:Paip1
|
UTSW |
13 |
119,574,515 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5425:Paip1
|
UTSW |
13 |
119,566,702 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5592:Paip1
|
UTSW |
13 |
119,587,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Paip1
|
UTSW |
13 |
119,577,301 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5929:Paip1
|
UTSW |
13 |
119,582,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Paip1
|
UTSW |
13 |
119,593,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6021:Paip1
|
UTSW |
13 |
119,593,671 (GRCm39) |
frame shift |
probably null |
|
|
R6326:Paip1
|
UTSW |
13 |
119,566,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6964:Paip1
|
UTSW |
13 |
119,587,306 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7544:Paip1
|
UTSW |
13 |
119,582,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Paip1
|
UTSW |
13 |
119,577,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7659:Paip1
|
UTSW |
13 |
119,587,306 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7660:Paip1
|
UTSW |
13 |
119,587,306 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7661:Paip1
|
UTSW |
13 |
119,587,306 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7984:Paip1
|
UTSW |
13 |
119,566,698 (GRCm39) |
nonsense |
probably null |
|
|
R8294:Paip1
|
UTSW |
13 |
119,587,300 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8884:Paip1
|
UTSW |
13 |
119,574,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Paip1
|
UTSW |
13 |
119,566,801 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8895:Paip1
|
UTSW |
13 |
119,566,801 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9315:Paip1
|
UTSW |
13 |
119,586,516 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Paip1
|
UTSW |
13 |
119,584,344 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAAACCTAAATGGCCAGTC -3'
(R):5'- TCACTGAGTAAACACTGGGTCC -3'
Sequencing Primer
(F):5'- ACCTAAATGGCCAGTCTTATTGG -3'
(R):5'- ACCATAGACAAAATACTGGATTGATC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation