Incidental Mutation 'IGL03403:Pram1'
| ID |
421496 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pram1
|
| Ensembl Gene |
ENSMUSG00000032739 |
| Gene Name |
PML-RAR alpha-regulated adaptor molecule 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33857030-33864680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33861117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 513
(I513F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052079]
[ENSMUST00000087582]
[ENSMUST00000114385]
[ENSMUST00000116619]
[ENSMUST00000139302]
[ENSMUST00000148178]
|
| AlphaFold |
Q6BCL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052079
AA Change: I513F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739
AA Change: I513F
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
15 |
151 |
3.3e-6 |
PROSPERO |
|
internal_repeat_1
|
237 |
378 |
3.3e-6 |
PROSPERO |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
486 |
N/A |
INTRINSIC |
|
SH3
|
581 |
655 |
1.09e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087582
|
| SMART Domains |
Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:HnRNP_M
|
40 |
69 |
2.7e-20 |
PFAM |
|
RRM
|
71 |
144 |
2.35e-20 |
SMART |
|
RRM
|
165 |
237 |
1.66e-20 |
SMART |
|
low complexity region
|
257 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
356 |
N/A |
INTRINSIC |
|
Blast:AAA
|
430 |
589 |
2e-50 |
BLAST |
|
low complexity region
|
590 |
603 |
N/A |
INTRINSIC |
|
RRM
|
614 |
685 |
1.51e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114385
|
| SMART Domains |
Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:HnRNP_M
|
40 |
69 |
1.5e-20 |
PFAM |
|
RRM
|
71 |
144 |
2.35e-20 |
SMART |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
193 |
N/A |
INTRINSIC |
|
RRM
|
204 |
276 |
1.66e-20 |
SMART |
|
low complexity region
|
296 |
313 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
332 |
432 |
3.9e-5 |
PROSPERO |
|
internal_repeat_2
|
479 |
581 |
3.9e-5 |
PROSPERO |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
642 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
643 |
676 |
1.39e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130946
|
| SMART Domains |
Protein: ENSMUSP00000116671
Gene: ENSMUSG00000059208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139302
|
| SMART Domains |
Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:HnRNP_M
|
40 |
69 |
1.4e-20 |
PFAM |
|
RRM
|
71 |
144 |
2.35e-20 |
SMART |
|
RRM
|
165 |
237 |
1.66e-20 |
SMART |
|
low complexity region
|
257 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
356 |
N/A |
INTRINSIC |
|
Blast:AAA
|
430 |
589 |
8e-51 |
BLAST |
|
low complexity region
|
590 |
603 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
611 |
635 |
5.49e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148178
|
| SMART Domains |
Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:HnRNP_M
|
40 |
69 |
2.2e-22 |
PFAM |
|
RRM
|
71 |
144 |
2.35e-20 |
SMART |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
193 |
N/A |
INTRINSIC |
|
RRM
|
204 |
276 |
1.66e-20 |
SMART |
|
low complexity region
|
296 |
313 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
332 |
432 |
6.64e-5 |
PROSPERO |
|
internal_repeat_2
|
479 |
581 |
6.64e-5 |
PROSPERO |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
642 |
N/A |
INTRINSIC |
|
RRM
|
653 |
724 |
1.51e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163245
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have neutrophils that exhibit decreased adhesion-dependent reactive oxygen intermediate production and degranulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
A |
15: 11,241,574 (GRCm39) |
I382N |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,659,902 (GRCm39) |
T797A |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,325 (GRCm39) |
V598E |
possibly damaging |
Het |
| Akap10 |
A |
G |
11: 61,806,099 (GRCm39) |
S210P |
probably benign |
Het |
| Asb5 |
G |
T |
8: 55,036,582 (GRCm39) |
|
probably benign |
Het |
| AU041133 |
T |
C |
10: 81,974,178 (GRCm39) |
V31A |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,306,618 (GRCm39) |
V197A |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,990,559 (GRCm39) |
V510A |
possibly damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,517 (GRCm39) |
D712E |
probably damaging |
Het |
| Cenpt |
G |
A |
8: 106,576,297 (GRCm39) |
Q85* |
probably null |
Het |
| Ciita |
C |
A |
16: 10,321,736 (GRCm39) |
H98N |
probably damaging |
Het |
| Cplane1 |
A |
C |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
| Csn1s1 |
T |
A |
5: 87,815,152 (GRCm39) |
M16K |
probably benign |
Het |
| Fah |
A |
G |
7: 84,242,417 (GRCm39) |
I297T |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,979,423 (GRCm39) |
N214D |
probably benign |
Het |
| Frem3 |
A |
C |
8: 81,337,719 (GRCm39) |
D4A |
probably benign |
Het |
| Gm3409 |
A |
G |
5: 146,476,334 (GRCm39) |
K162E |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,159,656 (GRCm39) |
D148G |
possibly damaging |
Het |
| Hoxd4 |
A |
T |
2: 74,558,681 (GRCm39) |
E168V |
possibly damaging |
Het |
| Ifna6 |
A |
G |
4: 88,745,695 (GRCm39) |
S15G |
possibly damaging |
Het |
| Iqck |
T |
A |
7: 118,475,494 (GRCm39) |
H97Q |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,553,789 (GRCm39) |
E1003V |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,592,836 (GRCm39) |
P3761L |
probably benign |
Het |
| Mc4r |
C |
T |
18: 66,992,597 (GRCm39) |
C172Y |
possibly damaging |
Het |
| Oosp1 |
T |
A |
19: 11,664,744 (GRCm39) |
N104I |
probably damaging |
Het |
| Or2z9 |
A |
G |
8: 72,854,341 (GRCm39) |
T246A |
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,767,125 (GRCm39) |
S125P |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,729,333 (GRCm39) |
D144G |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 38,113,550 (GRCm39) |
N303T |
possibly damaging |
Het |
| Rrn3 |
A |
T |
16: 13,617,809 (GRCm39) |
K351* |
probably null |
Het |
| Sox30 |
A |
T |
11: 45,908,035 (GRCm39) |
E734V |
probably damaging |
Het |
| Spns1 |
C |
T |
7: 125,970,708 (GRCm39) |
|
probably null |
Het |
| Tgfbr2 |
T |
A |
9: 115,939,370 (GRCm39) |
E177D |
probably benign |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,741 (GRCm39) |
M78T |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,387,114 (GRCm39) |
T151I |
probably damaging |
Het |
| Wwc1 |
A |
G |
11: 35,806,111 (GRCm39) |
Y41H |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,578,922 (GRCm39) |
N730K |
probably damaging |
Het |
|
| Other mutations in Pram1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01633:Pram1
|
APN |
17 |
33,861,109 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01949:Pram1
|
APN |
17 |
33,860,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01983:Pram1
|
APN |
17 |
33,859,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0100:Pram1
|
UTSW |
17 |
33,860,373 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0412:Pram1
|
UTSW |
17 |
33,860,480 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1915:Pram1
|
UTSW |
17 |
33,860,131 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2216:Pram1
|
UTSW |
17 |
33,860,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4177:Pram1
|
UTSW |
17 |
33,860,203 (GRCm39) |
missense |
probably benign |
|
|
R5007:Pram1
|
UTSW |
17 |
33,864,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Pram1
|
UTSW |
17 |
33,863,878 (GRCm39) |
nonsense |
probably null |
|
|
R5381:Pram1
|
UTSW |
17 |
33,860,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Pram1
|
UTSW |
17 |
33,860,386 (GRCm39) |
nonsense |
probably null |
|
|
R7815:Pram1
|
UTSW |
17 |
33,861,106 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8239:Pram1
|
UTSW |
17 |
33,860,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Pram1
|
UTSW |
17 |
33,860,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Pram1
|
UTSW |
17 |
33,860,131 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9208:Pram1
|
UTSW |
17 |
33,859,801 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9254:Pram1
|
UTSW |
17 |
33,860,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Pram1
|
UTSW |
17 |
33,860,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pram1
|
UTSW |
17 |
33,860,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation