Incidental Mutation 'R8705:Hnrnpd'
| ID |
669223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpd
|
| Ensembl Gene |
ENSMUSG00000000568 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein D |
| Synonyms |
Hnrpd, Auf1 |
| MMRRC Submission |
068559-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.736)
|
| Stock # |
R8705 (G1)
|
| Quality Score |
168.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100103794-100126797 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
A to G
at 100111588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019128]
[ENSMUST00000072750]
[ENSMUST00000112939]
[ENSMUST00000164833]
[ENSMUST00000168396]
[ENSMUST00000170912]
[ENSMUST00000172361]
[ENSMUST00000171640]
[ENSMUST00000171786]
|
| AlphaFold |
Q60668 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019128
|
| SMART Domains |
Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFNT
|
1 |
79 |
1.3e-16 |
PFAM |
|
RRM
|
98 |
170 |
3.85e-25 |
SMART |
|
RRM
|
183 |
255 |
7.76e-21 |
SMART |
|
low complexity region
|
262 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072750
|
| SMART Domains |
Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
66 |
N/A |
INTRINSIC |
|
RRM
|
79 |
151 |
3.85e-25 |
SMART |
|
RRM
|
164 |
236 |
7.76e-21 |
SMART |
|
low complexity region
|
243 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112939
|
| SMART Domains |
Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
66 |
N/A |
INTRINSIC |
|
RRM
|
79 |
151 |
3.85e-25 |
SMART |
|
RRM
|
164 |
236 |
7.76e-21 |
SMART |
|
low complexity region
|
243 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164833
|
| SMART Domains |
Protein: ENSMUSP00000131785
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
1 |
31 |
3e-13 |
BLAST |
|
PDB:1X0F|A
|
1 |
35 |
1e-17 |
PDB |
|
SCOP:d1fj7a_
|
1 |
40 |
4e-4 |
SMART |
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168396
|
| SMART Domains |
Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFNT
|
1 |
79 |
2.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170912
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171106
|
| SMART Domains |
Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
80 |
3.85e-25 |
SMART |
|
RRM
|
93 |
165 |
7.76e-21 |
SMART |
|
low complexity region
|
172 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172361
|
| SMART Domains |
Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFNT
|
1 |
78 |
9.6e-16 |
PFAM |
|
RRM
|
98 |
170 |
3.85e-25 |
SMART |
|
RRM
|
183 |
255 |
7.76e-21 |
SMART |
|
low complexity region
|
262 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
340 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171640
|
| SMART Domains |
Protein: ENSMUSP00000127833
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
27 |
99 |
7.76e-21 |
SMART |
|
low complexity region
|
106 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171786
|
| SMART Domains |
Protein: ENSMUSP00000125984
Gene: ENSMUSG00000000568
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
1 |
72 |
8.44e-22 |
SMART |
|
internal_repeat_1
|
86 |
107 |
2.75e-5 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.0870 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
97% (36/37) |
| 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 nucleic acid 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 repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in fetal growth retardation and decreased body weight. Mice show increased susceptibility to bacterial infection and endotoxin shock. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
G |
T |
13: 4,484,447 (GRCm39) |
G20W |
probably damaging |
Het |
| Ces1c |
A |
G |
8: 93,857,518 (GRCm39) |
L21P |
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,268,769 (GRCm39) |
G394V |
unknown |
Het |
| Cyp2c70 |
A |
G |
19: 40,168,948 (GRCm39) |
V113A |
probably benign |
Het |
| Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
| Fras1 |
A |
T |
5: 96,839,260 (GRCm39) |
D1593V |
probably benign |
Het |
| Frzb |
G |
A |
2: 80,277,241 (GRCm39) |
|
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,525,156 (GRCm39) |
D276G |
probably damaging |
Het |
| Gdf7 |
C |
T |
12: 8,348,167 (GRCm39) |
E377K |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,753,132 (GRCm39) |
F36L |
possibly damaging |
Het |
| Gm40460 |
A |
T |
7: 141,794,734 (GRCm39) |
C28S |
unknown |
Het |
| Hsd17b11 |
G |
A |
5: 104,140,703 (GRCm39) |
L265F |
probably benign |
Het |
| Hyal6 |
G |
A |
6: 24,734,673 (GRCm39) |
R202H |
probably benign |
Het |
| Igkv5-43 |
A |
G |
6: 69,800,592 (GRCm39) |
S32P |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,907 (GRCm39) |
Y860C |
probably damaging |
Het |
| Krt79 |
G |
A |
15: 101,846,441 (GRCm39) |
T169M |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,820,354 (GRCm39) |
C3296Y |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,148,729 (GRCm39) |
I1200K |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,902,495 (GRCm39) |
Y78* |
probably null |
Het |
| Napb |
A |
G |
2: 148,542,396 (GRCm39) |
V188A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,148,795 (GRCm39) |
Y2584C |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,446 (GRCm39) |
I253V |
possibly damaging |
Het |
| P4htm |
G |
A |
9: 108,457,240 (GRCm39) |
A381V |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,126,906 (GRCm39) |
F463I |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,775,612 (GRCm39) |
T1030A |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,838,651 (GRCm39) |
F615L |
unknown |
Het |
| Prrc2a |
A |
G |
17: 35,372,542 (GRCm39) |
S1700P |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Sf3b5 |
G |
T |
10: 12,884,554 (GRCm39) |
R63L |
probably damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,802,591 (GRCm39) |
L308P |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,368,032 (GRCm39) |
T599S |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,987,012 (GRCm39) |
N184S |
possibly damaging |
Het |
| Traf3 |
A |
G |
12: 111,208,938 (GRCm39) |
E119G |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,880,588 (GRCm39) |
|
probably benign |
Het |
| Ubxn11 |
A |
T |
4: 133,853,551 (GRCm39) |
I368F |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,207,188 (GRCm39) |
G151D |
probably damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,395 (GRCm39) |
R33S |
possibly damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,433 (GRCm39) |
V382A |
possibly damaging |
Het |
|
| Other mutations in Hnrnpd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0066:Hnrnpd
|
UTSW |
5 |
100,112,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Hnrnpd
|
UTSW |
5 |
100,112,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1022:Hnrnpd
|
UTSW |
5 |
100,114,016 (GRCm39) |
makesense |
probably null |
|
|
R1024:Hnrnpd
|
UTSW |
5 |
100,114,016 (GRCm39) |
makesense |
probably null |
|
|
R6019:Hnrnpd
|
UTSW |
5 |
100,115,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6502:Hnrnpd
|
UTSW |
5 |
100,114,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Hnrnpd
|
UTSW |
5 |
100,126,283 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6937:Hnrnpd
|
UTSW |
5 |
100,111,629 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7080:Hnrnpd
|
UTSW |
5 |
100,124,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7577:Hnrnpd
|
UTSW |
5 |
100,115,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCCTACCCTTACAGTGTAC -3'
(R):5'- CCCTGAAGTAAAGATCTTTGCTG -3'
Sequencing Primer
(F):5'- CCTTACAGTGTACATGTGATAAAGGC -3'
(R):5'- TGCTGATCTGACTTTAGTGAACC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation