Incidental Mutation 'R0011:Hnrnpul1'
| ID |
63214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpul1
|
| Ensembl Gene |
ENSMUSG00000040725 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein U-like 1 |
| Synonyms |
E130317O14Rik, Hnrpul1, Hnrnpul, E1B-AP5, E1BAP5 |
| MMRRC Submission |
038306-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.621)
|
| Stock # |
R0011 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 25442340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043765]
[ENSMUST00000108401]
[ENSMUST00000206832]
|
| AlphaFold |
Q8VDM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043765
|
| SMART Domains |
Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
3 |
37 |
2.86e-10 |
SMART |
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
209 |
N/A |
INTRINSIC |
|
SPRY
|
255 |
388 |
8.49e-41 |
SMART |
|
Pfam:AAA_33
|
424 |
569 |
1.4e-29 |
PFAM |
|
low complexity region
|
613 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
859 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108401
|
| SMART Domains |
Protein: ENSMUSP00000104038
Gene: ENSMUSG00000040725
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
3 |
37 |
2.86e-10 |
SMART |
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
209 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
255 |
338 |
2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206260
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206832
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,422 (GRCm39) |
V253A |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
| Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,244,655 (GRCm39) |
|
probably benign |
Het |
| Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,320,718 (GRCm39) |
I698T |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,382,903 (GRCm39) |
S2664P |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
| Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
| Cyb5a |
T |
A |
18: 84,895,947 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,103,844 (GRCm39) |
C847S |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,618,924 (GRCm39) |
K1648R |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
| Emilin2 |
C |
T |
17: 71,580,863 (GRCm39) |
G621E |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,545,900 (GRCm39) |
K228* |
probably null |
Het |
| Epg5 |
T |
C |
18: 77,991,698 (GRCm39) |
C132R |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
| G6pc2 |
C |
A |
2: 69,056,909 (GRCm39) |
|
probably benign |
Het |
| Gm7361 |
C |
T |
5: 26,463,876 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
| Insrr |
T |
C |
3: 87,716,923 (GRCm39) |
C688R |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,861 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
| Klk1 |
C |
T |
7: 43,878,959 (GRCm39) |
T149I |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,395,863 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Mtr |
T |
C |
13: 12,252,938 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,923 (GRCm39) |
N133K |
probably benign |
Het |
| Pik3r4 |
C |
A |
9: 105,521,836 (GRCm39) |
T134K |
probably benign |
Het |
| Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,194,025 (GRCm39) |
R85* |
probably null |
Het |
| Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
| Slc39a11 |
A |
T |
11: 113,138,659 (GRCm39) |
F279L |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,247,936 (GRCm39) |
K353E |
possibly damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,813,738 (GRCm39) |
M515K |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,254,825 (GRCm39) |
I1225T |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,784,467 (GRCm39) |
W534R |
probably benign |
Het |
| Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
| Tnfrsf1b |
T |
G |
4: 144,949,536 (GRCm39) |
R297S |
possibly damaging |
Het |
| Trim55 |
A |
G |
3: 19,725,163 (GRCm39) |
T227A |
probably benign |
Het |
| Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
| Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
| Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
| Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
probably benign |
Het |
|
| Other mutations in Hnrnpul1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Hnrnpul1
|
APN |
7 |
25,425,579 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01287:Hnrnpul1
|
APN |
7 |
25,426,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Hnrnpul1
|
APN |
7 |
25,424,077 (GRCm39) |
missense |
unknown |
|
|
IGL02026:Hnrnpul1
|
APN |
7 |
25,444,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02073:Hnrnpul1
|
APN |
7 |
25,421,766 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02474:Hnrnpul1
|
APN |
7 |
25,426,182 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02839:Hnrnpul1
|
APN |
7 |
25,432,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02894:Hnrnpul1
|
APN |
7 |
25,450,329 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03382:Hnrnpul1
|
APN |
7 |
25,450,409 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R0525:Hnrnpul1
|
UTSW |
7 |
25,440,308 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0587:Hnrnpul1
|
UTSW |
7 |
25,444,657 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1121:Hnrnpul1
|
UTSW |
7 |
25,440,332 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1313:Hnrnpul1
|
UTSW |
7 |
25,422,341 (GRCm39) |
unclassified |
probably benign |
|
|
R1313:Hnrnpul1
|
UTSW |
7 |
25,422,341 (GRCm39) |
unclassified |
probably benign |
|
|
R1880:Hnrnpul1
|
UTSW |
7 |
25,432,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1892:Hnrnpul1
|
UTSW |
7 |
25,426,191 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2113:Hnrnpul1
|
UTSW |
7 |
25,432,694 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2194:Hnrnpul1
|
UTSW |
7 |
25,425,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2269:Hnrnpul1
|
UTSW |
7 |
25,450,299 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2679:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Hnrnpul1
|
UTSW |
7 |
25,432,540 (GRCm39) |
nonsense |
probably null |
|
|
R3917:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4181:Hnrnpul1
|
UTSW |
7 |
25,426,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4449:Hnrnpul1
|
UTSW |
7 |
25,421,709 (GRCm39) |
unclassified |
probably benign |
|
|
R4707:Hnrnpul1
|
UTSW |
7 |
25,426,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Hnrnpul1
|
UTSW |
7 |
25,442,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5040:Hnrnpul1
|
UTSW |
7 |
25,442,414 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5131:Hnrnpul1
|
UTSW |
7 |
25,426,219 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5224:Hnrnpul1
|
UTSW |
7 |
25,444,600 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5599:Hnrnpul1
|
UTSW |
7 |
25,454,097 (GRCm39) |
start gained |
probably benign |
|
|
R5975:Hnrnpul1
|
UTSW |
7 |
25,453,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7032:Hnrnpul1
|
UTSW |
7 |
25,450,319 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7195:Hnrnpul1
|
UTSW |
7 |
25,424,203 (GRCm39) |
missense |
unknown |
|
|
R7231:Hnrnpul1
|
UTSW |
7 |
25,447,842 (GRCm39) |
nonsense |
probably null |
|
|
R7667:Hnrnpul1
|
UTSW |
7 |
25,453,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8017:Hnrnpul1
|
UTSW |
7 |
25,447,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8060:Hnrnpul1
|
UTSW |
7 |
25,447,768 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8319:Hnrnpul1
|
UTSW |
7 |
25,453,902 (GRCm39) |
missense |
probably benign |
|
|
R8356:Hnrnpul1
|
UTSW |
7 |
25,422,247 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Hnrnpul1
|
UTSW |
7 |
25,424,123 (GRCm39) |
missense |
unknown |
|
|
Z1176:Hnrnpul1
|
UTSW |
7 |
25,424,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGACAGTCACTGAGCCTGGCAG -3'
(R):5'- ACCCACCAGCTTTAAGAGAATTGATCC -3'
Sequencing Primer
(F):5'- CCCAAAAGAGTTGTTTCCGATAGG -3'
(R):5'- GAGAATTGATCCTGAGCATTCTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation