Incidental Mutation 'R7517:Hnrnph3'
| ID |
582530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnph3
|
| Ensembl Gene |
ENSMUSG00000020069 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein H3 |
| Synonyms |
Hnrph3, hnRNP 2H9 |
| MMRRC Submission |
045590-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
R7517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62850443-62859764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62854674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 39
(L39S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020263]
[ENSMUST00000118898]
[ENSMUST00000119567]
[ENSMUST00000119814]
[ENSMUST00000140743]
[ENSMUST00000143594]
|
| AlphaFold |
D3Z3N4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020263
AA Change: L39S
|
| SMART Domains |
Protein: ENSMUSP00000020263
Gene: ENSMUSG00000020069
AA Change: L39S
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
89 |
1.11e-7 |
SMART |
|
low complexity region
|
102 |
191 |
N/A |
INTRINSIC |
|
RRM
|
196 |
266 |
7.96e-9 |
SMART |
|
low complexity region
|
272 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000118898
AA Change: L39S
|
| SMART Domains |
Protein: ENSMUSP00000112424
Gene: ENSMUSG00000020069
AA Change: L39S
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
89 |
1.11e-7 |
SMART |
|
low complexity region
|
102 |
176 |
N/A |
INTRINSIC |
|
RRM
|
181 |
251 |
7.96e-9 |
SMART |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119567
|
| SMART Domains |
Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
coiled coil region
|
210 |
268 |
N/A |
INTRINSIC |
|
coiled coil region
|
326 |
515 |
N/A |
INTRINSIC |
|
FYVE
|
532 |
599 |
6.99e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119814
|
| SMART Domains |
Protein: ENSMUSP00000113134
Gene: ENSMUSG00000020069
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1WG5|A
|
10 |
39 |
3e-11 |
PDB |
|
Blast:RRM
|
17 |
43 |
6e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140743
|
| SMART Domains |
Protein: ENSMUSP00000118444
Gene: ENSMUSG00000020069
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1WG5|A
|
10 |
39 |
3e-11 |
PDB |
|
Blast:RRM
|
17 |
43 |
6e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143594
|
| SMART Domains |
Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
105 |
167 |
3.02e-22 |
SMART |
|
coiled coil region
|
210 |
268 |
N/A |
INTRINSIC |
|
coiled coil region
|
326 |
406 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5066 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| 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 repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
| Asph |
A |
T |
4: 9,517,697 (GRCm39) |
V475E |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
| Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
| Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
| Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
| Ddx21 |
G |
A |
10: 62,424,569 (GRCm39) |
P544L |
probably damaging |
Het |
| Epas1 |
C |
A |
17: 87,138,526 (GRCm39) |
T874N |
possibly damaging |
Het |
| Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
| Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
| Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,265,059 (GRCm39) |
T674A |
probably benign |
Het |
| Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
| Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
| Lrrc26 |
T |
C |
2: 25,180,545 (GRCm39) |
I182T |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
| Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
| Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,088,072 (GRCm39) |
*1162K |
probably null |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
| Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
| Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
| Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
| Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
| Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
| Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
| Tgm3 |
T |
G |
2: 129,883,684 (GRCm39) |
S447R |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
| Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
Het |
|
| Other mutations in Hnrnph3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Hnrnph3
|
APN |
10 |
62,853,903 (GRCm39) |
makesense |
probably null |
|
|
IGL02112:Hnrnph3
|
APN |
10 |
62,852,184 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02116:Hnrnph3
|
APN |
10 |
62,851,855 (GRCm39) |
intron |
probably benign |
|
|
IGL02193:Hnrnph3
|
APN |
10 |
62,853,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02211:Hnrnph3
|
APN |
10 |
62,853,121 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02410:Hnrnph3
|
APN |
10 |
62,851,503 (GRCm39) |
intron |
probably benign |
|
|
IGL02616:Hnrnph3
|
APN |
10 |
62,855,264 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03033:Hnrnph3
|
APN |
10 |
62,853,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03367:Hnrnph3
|
APN |
10 |
62,853,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Hnrnph3
|
UTSW |
10 |
62,855,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0450:Hnrnph3
|
UTSW |
10 |
62,853,994 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0469:Hnrnph3
|
UTSW |
10 |
62,855,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0469:Hnrnph3
|
UTSW |
10 |
62,853,994 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1585:Hnrnph3
|
UTSW |
10 |
62,851,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4285:Hnrnph3
|
UTSW |
10 |
62,852,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Hnrnph3
|
UTSW |
10 |
62,853,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Hnrnph3
|
UTSW |
10 |
62,855,222 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5873:Hnrnph3
|
UTSW |
10 |
62,855,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5952:Hnrnph3
|
UTSW |
10 |
62,851,374 (GRCm39) |
intron |
probably benign |
|
|
R6059:Hnrnph3
|
UTSW |
10 |
62,854,641 (GRCm39) |
unclassified |
probably benign |
|
|
R6644:Hnrnph3
|
UTSW |
10 |
62,854,672 (GRCm39) |
unclassified |
probably benign |
|
|
R9374:Hnrnph3
|
UTSW |
10 |
62,853,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9436:Hnrnph3
|
UTSW |
10 |
62,854,627 (GRCm39) |
nonsense |
probably null |
|
|
R9437:Hnrnph3
|
UTSW |
10 |
62,854,627 (GRCm39) |
nonsense |
probably null |
|
|
R9781:Hnrnph3
|
UTSW |
10 |
62,853,861 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTACCCACCCCATTTAAG -3'
(R):5'- GAGTTACCATTGGGAGCACAG -3'
Sequencing Primer
(F):5'- CACCCCATTTAAGCAACAGTG -3'
(R):5'- GTTACCATTGGGAGCACAGTTAATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation