Incidental Mutation 'R2243:Hnrnpul2'
| ID |
240748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpul2
|
| Ensembl Gene |
ENSMUSG00000071659 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein U-like 2 |
| Synonyms |
1110031M08Rik, Hnrpul2 |
| MMRRC Submission |
040243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R2243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8797374-8811507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8798001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 119
(M119K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088092]
[ENSMUST00000096751]
[ENSMUST00000096753]
[ENSMUST00000153281]
|
| AlphaFold |
Q00PI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088092
|
| SMART Domains |
Protein: ENSMUSP00000085413
Gene: ENSMUSG00000071660
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
8 |
41 |
1.11e1 |
SMART |
|
TPR
|
72 |
107 |
3.41e1 |
SMART |
|
TPR
|
108 |
141 |
7.34e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096751
|
| SMART Domains |
Protein: ENSMUSP00000094513
Gene: ENSMUSG00000071660
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
8 |
41 |
1.11e1 |
SMART |
|
TPR
|
72 |
107 |
3.41e1 |
SMART |
|
TPR
|
108 |
141 |
7.34e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096753
AA Change: M119K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: M119K
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
3 |
37 |
6.03e-9 |
SMART |
|
low complexity region
|
68 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
240 |
N/A |
INTRINSIC |
|
SPRY
|
287 |
416 |
5.23e-32 |
SMART |
|
Pfam:AAA_33
|
452 |
597 |
1.2e-25 |
PFAM |
|
low complexity region
|
637 |
666 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153281
|
| SMART Domains |
Protein: ENSMUSP00000120656
Gene: ENSMUSG00000071660
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
6 |
93 |
1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0727 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
G |
A |
4: 144,503,991 (GRCm39) |
R387C |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,068,470 (GRCm39) |
E93D |
possibly damaging |
Het |
| Akap10 |
C |
A |
11: 61,806,327 (GRCm39) |
V134F |
possibly damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,821 (GRCm39) |
I469V |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,978,888 (GRCm39) |
I809L |
possibly damaging |
Het |
| Dicer1 |
T |
A |
12: 104,696,447 (GRCm39) |
E118V |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,292 (GRCm39) |
F274S |
probably benign |
Het |
| Dnaaf2 |
T |
G |
12: 69,243,418 (GRCm39) |
T548P |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,883,092 (GRCm39) |
N240S |
probably benign |
Het |
| Foxb1 |
T |
C |
9: 69,667,146 (GRCm39) |
Y128C |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,532,896 (GRCm39) |
K158M |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,385,972 (GRCm39) |
D1031E |
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,477,018 (GRCm39) |
D22G |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Kif18a |
C |
A |
2: 109,128,452 (GRCm39) |
H369Q |
probably damaging |
Het |
| Klhdc10 |
A |
G |
6: 30,449,558 (GRCm39) |
T207A |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,161 (GRCm39) |
C540R |
possibly damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,704 (GRCm39) |
N133Y |
possibly damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,739,179 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,767 (GRCm39) |
R2009H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,338,597 (GRCm39) |
V99I |
probably benign |
Het |
| Or2w3b |
G |
A |
11: 58,623,271 (GRCm39) |
T240M |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,479 (GRCm39) |
S549P |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,323 (GRCm39) |
F2610S |
probably damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,114 (GRCm39) |
T42A |
possibly damaging |
Het |
| Serpina6 |
T |
A |
12: 103,613,187 (GRCm39) |
Y371F |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,778,782 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
C |
A |
7: 140,972,217 (GRCm39) |
T28K |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,785,097 (GRCm39) |
Y184C |
probably damaging |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,317,871 (GRCm39) |
I179N |
possibly damaging |
Het |
| Uimc1 |
A |
T |
13: 55,198,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r68 |
A |
T |
7: 10,262,089 (GRCm39) |
V3E |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 29,991,139 (GRCm39) |
F683L |
probably damaging |
Het |
|
| Other mutations in Hnrnpul2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Hnrnpul2
|
APN |
19 |
8,800,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Hnrnpul2
|
UTSW |
19 |
8,804,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Hnrnpul2
|
UTSW |
19 |
8,801,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Hnrnpul2
|
UTSW |
19 |
8,804,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Hnrnpul2
|
UTSW |
19 |
8,802,416 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1110:Hnrnpul2
|
UTSW |
19 |
8,804,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1227:Hnrnpul2
|
UTSW |
19 |
8,800,601 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1589:Hnrnpul2
|
UTSW |
19 |
8,808,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Hnrnpul2
|
UTSW |
19 |
8,801,802 (GRCm39) |
nonsense |
probably null |
|
|
R2226:Hnrnpul2
|
UTSW |
19 |
8,802,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3703:Hnrnpul2
|
UTSW |
19 |
8,801,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4038:Hnrnpul2
|
UTSW |
19 |
8,800,591 (GRCm39) |
unclassified |
probably benign |
|
|
R4856:Hnrnpul2
|
UTSW |
19 |
8,807,191 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4886:Hnrnpul2
|
UTSW |
19 |
8,807,191 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5016:Hnrnpul2
|
UTSW |
19 |
8,800,189 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5365:Hnrnpul2
|
UTSW |
19 |
8,798,080 (GRCm39) |
missense |
probably benign |
|
|
R5435:Hnrnpul2
|
UTSW |
19 |
8,797,682 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5951:Hnrnpul2
|
UTSW |
19 |
8,802,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Hnrnpul2
|
UTSW |
19 |
8,800,596 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6824:Hnrnpul2
|
UTSW |
19 |
8,804,081 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6924:Hnrnpul2
|
UTSW |
19 |
8,808,873 (GRCm39) |
missense |
unknown |
|
|
R6978:Hnrnpul2
|
UTSW |
19 |
8,801,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Hnrnpul2
|
UTSW |
19 |
8,808,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7688:Hnrnpul2
|
UTSW |
19 |
8,797,994 (GRCm39) |
missense |
probably benign |
|
|
R7726:Hnrnpul2
|
UTSW |
19 |
8,808,644 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7749:Hnrnpul2
|
UTSW |
19 |
8,797,788 (GRCm39) |
missense |
probably benign |
|
|
R7753:Hnrnpul2
|
UTSW |
19 |
8,802,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8007:Hnrnpul2
|
UTSW |
19 |
8,798,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8725:Hnrnpul2
|
UTSW |
19 |
8,798,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8727:Hnrnpul2
|
UTSW |
19 |
8,798,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8901:Hnrnpul2
|
UTSW |
19 |
8,801,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8994:Hnrnpul2
|
UTSW |
19 |
8,802,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Hnrnpul2
|
UTSW |
19 |
8,801,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9187:Hnrnpul2
|
UTSW |
19 |
8,808,319 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9347:Hnrnpul2
|
UTSW |
19 |
8,798,080 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGAGATGCTGGAGGAC -3'
(R):5'- CTTTCGGGCAAGTGGAAACAAG -3'
Sequencing Primer
(F):5'- ATGCTGGAGGACGAGGCC -3'
(R):5'- ATCAGATAGCGCGGTGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation