Incidental Mutation 'IGL02981:Hnrnpdl'
| ID |
406529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hnrnpdl
|
| Ensembl Gene |
ENSMUSG00000029328 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein D-like |
| Synonyms |
D5Wsu145e, hnRNP-DL, D5Ertd650e, Hnrpdl, JKTBP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
IGL02981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
100181436-100187523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100184958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 298
(I298V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031268]
[ENSMUST00000086900]
[ENSMUST00000128187]
[ENSMUST00000149384]
[ENSMUST00000169390]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031268
|
| SMART Domains |
Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD_2
|
13 |
227 |
2.6e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086900
AA Change: I298V
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328
AA Change: I298V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
RRM
|
149 |
221 |
1.74e-23 |
SMART |
|
RRM
|
234 |
306 |
3.56e-20 |
SMART |
|
low complexity region
|
315 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128187
AA Change: I298V
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328
AA Change: I298V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
RRM
|
149 |
221 |
1.74e-23 |
SMART |
|
RRM
|
234 |
306 |
3.56e-20 |
SMART |
|
low complexity region
|
315 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141337
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149384
|
| SMART Domains |
Protein: ENSMUSP00000117589
Gene: ENSMUSG00000029328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
|
Blast:RRM
|
28 |
59 |
1e-13 |
BLAST |
|
low complexity region
|
63 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151323
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153442
AA Change: I200V
|
| SMART Domains |
Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328
AA Change: I200V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
52 |
124 |
1.74e-23 |
SMART |
|
RRM
|
137 |
209 |
3.56e-20 |
SMART |
|
low complexity region
|
218 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169390
|
| SMART Domains |
Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD_2
|
13 |
227 |
2.6e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,675,044 (GRCm39) |
S392P |
probably benign |
Het |
| Adam23 |
G |
A |
1: 63,610,112 (GRCm39) |
V705I |
probably damaging |
Het |
| Ank2 |
T |
G |
3: 126,728,211 (GRCm39) |
D794A |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,965,305 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
G |
18: 80,797,504 (GRCm39) |
V857A |
possibly damaging |
Het |
| Banp |
T |
C |
8: 122,705,303 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,171 (GRCm39) |
N999Y |
probably benign |
Het |
| Cd14 |
T |
C |
18: 36,859,532 (GRCm39) |
|
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,443,770 (GRCm39) |
I447T |
probably damaging |
Het |
| Dip2a |
A |
G |
10: 76,112,255 (GRCm39) |
V1090A |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,903,969 (GRCm39) |
H210L |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,839,476 (GRCm39) |
|
probably benign |
Het |
| Fam243 |
T |
C |
16: 92,117,757 (GRCm39) |
N177S |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,573,862 (GRCm39) |
F97L |
probably benign |
Het |
| Fut8 |
C |
A |
12: 77,521,812 (GRCm39) |
P484T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,550 (GRCm39) |
E190G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,670 (GRCm39) |
D1472E |
possibly damaging |
Het |
| Jakmip2 |
C |
A |
18: 43,695,595 (GRCm39) |
|
probably null |
Het |
| Kcnj5 |
G |
A |
9: 32,233,877 (GRCm39) |
T146I |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,496 (GRCm39) |
F389V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 69,938,969 (GRCm39) |
V114A |
probably damaging |
Het |
| Or10a2 |
C |
A |
7: 106,673,758 (GRCm39) |
T241N |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,678,714 (GRCm39) |
G901R |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,240,656 (GRCm39) |
Y15H |
probably damaging |
Het |
| Pdp2 |
T |
C |
8: 105,320,267 (GRCm39) |
W39R |
probably benign |
Het |
| Poc5 |
T |
C |
13: 96,538,265 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
A |
G |
4: 124,552,236 (GRCm39) |
D246G |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,999,430 (GRCm39) |
Y219F |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,676,670 (GRCm39) |
K678E |
probably damaging |
Het |
| Rps2 |
T |
C |
17: 24,940,698 (GRCm39) |
F271L |
probably benign |
Het |
| Serpina3k |
C |
A |
12: 104,307,250 (GRCm39) |
Q161K |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 33,155,589 (GRCm39) |
T101A |
probably benign |
Het |
| Tprkb |
T |
A |
6: 85,904,861 (GRCm39) |
D112E |
probably benign |
Het |
| Tubal3 |
A |
G |
13: 3,983,257 (GRCm39) |
T346A |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,193,112 (GRCm39) |
F409S |
possibly damaging |
Het |
| Zbtb6 |
G |
A |
2: 37,319,176 (GRCm39) |
Q251* |
probably null |
Het |
|
| Other mutations in Hnrnpdl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02751:Hnrnpdl
|
APN |
5 |
100,185,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Hnrnpdl
|
APN |
5 |
100,185,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Hnrnpdl
|
UTSW |
5 |
100,185,783 (GRCm39) |
nonsense |
probably null |
|
|
R4812:Hnrnpdl
|
UTSW |
5 |
100,184,331 (GRCm39) |
unclassified |
probably benign |
|
|
R5154:Hnrnpdl
|
UTSW |
5 |
100,184,371 (GRCm39) |
nonsense |
probably null |
|
|
R6082:Hnrnpdl
|
UTSW |
5 |
100,184,340 (GRCm39) |
missense |
probably null |
1.00 |
|
R6086:Hnrnpdl
|
UTSW |
5 |
100,184,340 (GRCm39) |
missense |
probably null |
1.00 |
|
R6143:Hnrnpdl
|
UTSW |
5 |
100,184,410 (GRCm39) |
nonsense |
probably null |
|
|
R6305:Hnrnpdl
|
UTSW |
5 |
100,186,517 (GRCm39) |
unclassified |
probably benign |
|
|
R6807:Hnrnpdl
|
UTSW |
5 |
100,186,995 (GRCm39) |
missense |
probably null |
|
|
R7309:Hnrnpdl
|
UTSW |
5 |
100,185,482 (GRCm39) |
nonsense |
probably null |
|
|
R7449:Hnrnpdl
|
UTSW |
5 |
100,185,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8098:Hnrnpdl
|
UTSW |
5 |
100,185,779 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8922:Hnrnpdl
|
UTSW |
5 |
100,184,419 (GRCm39) |
nonsense |
probably null |
|
|
X0020:Hnrnpdl
|
UTSW |
5 |
100,184,428 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation