Incidental Mutation 'R1136:Hnrnpu'
| ID |
94958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpu
|
| Ensembl Gene |
ENSMUSG00000039630 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein U |
| Synonyms |
Sp120, scaffold attachment factor A, Hnrpu |
| MMRRC Submission |
039209-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1136 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
178148673-178165362 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 178158790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037748]
[ENSMUST00000161769]
|
| AlphaFold |
Q8VEK3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000037748
AA Change: C570S
|
| SMART Domains |
Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: C570S
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
8 |
42 |
3.57e-11 |
SMART |
|
low complexity region
|
70 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
207 |
N/A |
INTRINSIC |
|
SPRY
|
307 |
439 |
2.35e-34 |
SMART |
|
Pfam:AAA_33
|
475 |
619 |
2e-30 |
PFAM |
|
coiled coil region
|
626 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
791 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150825
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161769
AA Change: C570S
|
| SMART Domains |
Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: C570S
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
8 |
42 |
3.57e-11 |
SMART |
|
low complexity region
|
70 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
207 |
N/A |
INTRINSIC |
|
SPRY
|
307 |
439 |
2.35e-34 |
SMART |
|
Pfam:AAA_33
|
475 |
619 |
6.7e-31 |
PFAM |
|
coiled coil region
|
626 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189450
|
| Meta Mutation Damage Score |
0.0807 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
100% (52/52) |
| 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 form complexes 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 contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality, delayed embryonic development, and failure of chorioallantoic fusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
C |
T |
13: 68,878,436 (GRCm39) |
G401S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,847 (GRCm39) |
F133L |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,670 (GRCm39) |
E290G |
probably damaging |
Het |
| Ccdc180 |
C |
A |
4: 45,914,589 (GRCm39) |
D701E |
probably benign |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,539,213 (GRCm39) |
I1508N |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,862,329 (GRCm39) |
R80G |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,449,902 (GRCm39) |
V805D |
possibly damaging |
Het |
| Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
T |
A |
13: 64,016,934 (GRCm39) |
V679D |
possibly damaging |
Het |
| Esp6 |
T |
C |
17: 40,876,284 (GRCm39) |
Y111H |
probably benign |
Het |
| Focad |
T |
C |
4: 88,244,417 (GRCm39) |
F799S |
unknown |
Het |
| Foxred1 |
C |
A |
9: 35,116,333 (GRCm39) |
M438I |
probably benign |
Het |
| Galnt11 |
T |
G |
5: 25,463,943 (GRCm39) |
V405G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,457,935 (GRCm39) |
Y473H |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,450,115 (GRCm39) |
T461M |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,755,646 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,705,948 (GRCm39) |
H291R |
probably damaging |
Het |
| Mfsd14b |
C |
T |
13: 65,243,506 (GRCm39) |
S46N |
probably benign |
Het |
| Mtch1 |
C |
T |
17: 29,552,744 (GRCm39) |
|
probably null |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mylk |
T |
C |
16: 34,820,688 (GRCm39) |
I1880T |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,965,815 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,654,049 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
G |
T |
2: 25,297,727 (GRCm39) |
A127S |
probably benign |
Het |
| Nudt3 |
C |
A |
17: 27,842,080 (GRCm39) |
R27L |
probably benign |
Het |
| Nwd1 |
C |
T |
8: 73,424,397 (GRCm39) |
|
probably benign |
Het |
| Pex7 |
T |
A |
10: 19,764,434 (GRCm39) |
I170F |
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,404,902 (GRCm39) |
V57A |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,053 (GRCm39) |
P1687S |
possibly damaging |
Het |
| Plekhj1 |
A |
T |
10: 80,633,654 (GRCm39) |
|
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,968 (GRCm39) |
L312H |
probably damaging |
Het |
| Samsn1 |
T |
C |
16: 75,670,408 (GRCm39) |
I232V |
probably null |
Het |
| Sec63 |
A |
T |
10: 42,682,542 (GRCm39) |
D411V |
probably damaging |
Het |
| Slc44a4 |
C |
T |
17: 35,146,998 (GRCm39) |
H343Y |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tent2 |
C |
T |
13: 93,312,205 (GRCm39) |
|
probably null |
Het |
| Tmtc3 |
A |
G |
10: 100,307,905 (GRCm39) |
|
probably benign |
Het |
| Trafd1 |
C |
T |
5: 121,511,387 (GRCm39) |
R477H |
possibly damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,033,626 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,549 (GRCm39) |
D578V |
possibly damaging |
Het |
| Wdcp |
G |
A |
12: 4,901,655 (GRCm39) |
V504I |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,423,196 (GRCm39) |
Y487H |
probably damaging |
Het |
| Zfp457 |
T |
C |
13: 67,441,846 (GRCm39) |
H147R |
probably damaging |
Het |
|
| Other mutations in Hnrnpu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03117:Hnrnpu
|
APN |
1 |
178,158,339 (GRCm39) |
unclassified |
probably benign |
|
|
R1205:Hnrnpu
|
UTSW |
1 |
178,159,734 (GRCm39) |
unclassified |
probably benign |
|
|
R1317:Hnrnpu
|
UTSW |
1 |
178,157,822 (GRCm39) |
unclassified |
probably benign |
|
|
R1318:Hnrnpu
|
UTSW |
1 |
178,157,822 (GRCm39) |
unclassified |
probably benign |
|
|
R1778:Hnrnpu
|
UTSW |
1 |
178,152,806 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R3160:Hnrnpu
|
UTSW |
1 |
178,158,690 (GRCm39) |
unclassified |
probably benign |
|
|
R3161:Hnrnpu
|
UTSW |
1 |
178,158,690 (GRCm39) |
unclassified |
probably benign |
|
|
R3162:Hnrnpu
|
UTSW |
1 |
178,158,690 (GRCm39) |
unclassified |
probably benign |
|
|
R3162:Hnrnpu
|
UTSW |
1 |
178,158,690 (GRCm39) |
unclassified |
probably benign |
|
|
R4408:Hnrnpu
|
UTSW |
1 |
178,158,368 (GRCm39) |
unclassified |
probably benign |
|
|
R4667:Hnrnpu
|
UTSW |
1 |
178,159,746 (GRCm39) |
unclassified |
probably benign |
|
|
R4833:Hnrnpu
|
UTSW |
1 |
178,161,459 (GRCm39) |
unclassified |
probably benign |
|
|
R4906:Hnrnpu
|
UTSW |
1 |
178,156,938 (GRCm39) |
intron |
probably benign |
|
|
R4923:Hnrnpu
|
UTSW |
1 |
178,159,017 (GRCm39) |
unclassified |
probably benign |
|
|
R5000:Hnrnpu
|
UTSW |
1 |
178,156,941 (GRCm39) |
intron |
probably benign |
|
|
R5256:Hnrnpu
|
UTSW |
1 |
178,163,458 (GRCm39) |
missense |
unknown |
|
|
R5307:Hnrnpu
|
UTSW |
1 |
178,164,877 (GRCm39) |
missense |
unknown |
|
|
R5911:Hnrnpu
|
UTSW |
1 |
178,157,737 (GRCm39) |
unclassified |
probably benign |
|
|
R6931:Hnrnpu
|
UTSW |
1 |
178,158,997 (GRCm39) |
unclassified |
probably benign |
|
|
R7061:Hnrnpu
|
UTSW |
1 |
178,163,691 (GRCm39) |
missense |
unknown |
|
|
R7077:Hnrnpu
|
UTSW |
1 |
178,159,756 (GRCm39) |
missense |
unknown |
|
|
R7391:Hnrnpu
|
UTSW |
1 |
178,164,643 (GRCm39) |
missense |
unknown |
|
|
R7423:Hnrnpu
|
UTSW |
1 |
178,156,849 (GRCm39) |
intron |
probably benign |
|
|
R7991:Hnrnpu
|
UTSW |
1 |
178,159,871 (GRCm39) |
missense |
unknown |
|
|
R8037:Hnrnpu
|
UTSW |
1 |
178,159,917 (GRCm39) |
missense |
unknown |
|
|
R8161:Hnrnpu
|
UTSW |
1 |
178,165,067 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8265:Hnrnpu
|
UTSW |
1 |
178,159,725 (GRCm39) |
missense |
unknown |
|
|
R8537:Hnrnpu
|
UTSW |
1 |
178,161,199 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Hnrnpu
|
UTSW |
1 |
178,159,780 (GRCm39) |
missense |
unknown |
|
|
Z1186:Hnrnpu
|
UTSW |
1 |
178,164,591 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTATCTGGTCACGGCCTTCATCAC -3'
(R):5'- AACACACTGTTGCAGAGAGCCC -3'
Sequencing Primer
(F):5'- TTTCTAGGTATAAATCCCCAAACCG -3'
(R):5'- AGAGCCCCACAGTGTCTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation