Incidental Mutation 'R4449:Hnrnpul1'
| ID |
328880 |
| 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 |
041710-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.621)
|
| Stock # |
R4449 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 25421709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002683]
[ENSMUST00000043765]
[ENSMUST00000125699]
[ENSMUST00000206832]
|
| AlphaFold |
Q8VDM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002683
|
| SMART Domains |
Protein: ENSMUSP00000002683
Gene: ENSMUSG00000002608
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2052
|
156 |
327 |
4.1e-54 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000043765
AA Change: Y748C
|
| SMART Domains |
Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: Y748C
| 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: ENSMUST00000125699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154143
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206832
AA Change: Y848C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156365
|
| Meta Mutation Damage Score |
0.1330 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (47/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap3 |
A |
T |
15: 83,218,759 (GRCm39) |
Y105N |
probably damaging |
Het |
| Arid3b |
T |
A |
9: 57,705,404 (GRCm39) |
K266* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,388,079 (GRCm39) |
E824G |
possibly damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Cadm1 |
T |
A |
9: 47,725,286 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,441,735 (GRCm39) |
A22V |
possibly damaging |
Het |
| Cntrob |
C |
A |
11: 69,196,375 (GRCm39) |
D687Y |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,857,185 (GRCm39) |
|
probably benign |
Het |
| Ddc |
T |
C |
11: 11,785,802 (GRCm39) |
D295G |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,285 (GRCm39) |
Y347N |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Helz |
T |
C |
11: 107,494,989 (GRCm39) |
V321A |
probably benign |
Het |
| Hsdl2 |
T |
A |
4: 59,617,692 (GRCm39) |
I353K |
possibly damaging |
Het |
| Igkv3-2 |
G |
A |
6: 70,675,825 (GRCm39) |
A45T |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,909,762 (GRCm39) |
Y429C |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,268,174 (GRCm39) |
N132K |
probably damaging |
Het |
| Mlycd |
T |
A |
8: 120,137,144 (GRCm39) |
Y455N |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,847,354 (GRCm39) |
D115N |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,687 (GRCm39) |
I196F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,827 (GRCm39) |
T461A |
probably damaging |
Het |
| Pi4kb |
C |
T |
3: 94,892,046 (GRCm39) |
S254L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,107,535 (GRCm39) |
V257A |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,212,544 (GRCm39) |
D596G |
probably damaging |
Het |
| Rngtt |
T |
C |
4: 33,330,865 (GRCm39) |
F156S |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,844 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
T |
C |
11: 66,416,244 (GRCm39) |
T183A |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,127,206 (GRCm39) |
V287E |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,040,715 (GRCm39) |
S392C |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,305,052 (GRCm39) |
I81V |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,234 (GRCm39) |
D99E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,984,935 (GRCm39) |
C318R |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,299,500 (GRCm39) |
I449T |
possibly damaging |
Het |
| Twsg1 |
A |
C |
17: 66,233,305 (GRCm39) |
V215G |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,776,862 (GRCm39) |
V293A |
possibly damaging |
Het |
| Unk |
G |
A |
11: 115,944,460 (GRCm39) |
G404S |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,498,828 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,876,939 (GRCm39) |
V2864A |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,818,040 (GRCm39) |
R1492W |
probably damaging |
Het |
| Zcchc3 |
G |
C |
2: 152,256,642 (GRCm39) |
P19R |
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 |
|
R0011:Hnrnpul1
|
UTSW |
7 |
25,442,340 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- CTGTTGCCTGTTGGAATCCAGAG -3'
(R):5'- AACCCATGTGATGAGGGTGG -3'
Sequencing Primer
(F):5'- CCTGTATGAAGAGAGAAGCTCCTCTG -3'
(R):5'- CCATGTGATGAGGGTGGACCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation