Incidental Mutation 'R0563:Nelfe'
ID |
46036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nelfe
|
Ensembl Gene |
ENSMUSG00000024369 |
Gene Name |
negative elongation factor complex member E, Rdbp |
Synonyms |
NELF-E, Rdbp |
MMRRC Submission |
038754-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0563 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35069367-35075348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35073215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 250
(E250G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134272
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000046022]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000173357]
[ENSMUST00000165953]
[ENSMUST00000153400]
[ENSMUST00000154526]
[ENSMUST00000172966]
[ENSMUST00000176203]
[ENSMUST00000146299]
[ENSMUST00000173065]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025229
|
SMART Domains |
Protein: ENSMUSP00000025229 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
CCP
|
36 |
88 |
5.15e-1 |
SMART |
CCP
|
102 |
157 |
4.62e-15 |
SMART |
CCP
|
164 |
217 |
2.06e-12 |
SMART |
VWA
|
267 |
472 |
1.07e-40 |
SMART |
Tryp_SPc
|
480 |
751 |
2.53e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000046022
|
SMART Domains |
Protein: ENSMUSP00000036265 Gene: ENSMUSG00000040356
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
low complexity region
|
171 |
176 |
N/A |
INTRINSIC |
low complexity region
|
208 |
237 |
N/A |
INTRINSIC |
low complexity region
|
269 |
279 |
N/A |
INTRINSIC |
DEXDc
|
304 |
487 |
3.61e-28 |
SMART |
low complexity region
|
583 |
592 |
N/A |
INTRINSIC |
HELICc
|
619 |
705 |
8.63e-17 |
SMART |
Pfam:rRNA_proc-arch
|
760 |
1044 |
9.7e-39 |
PFAM |
DSHCT
|
1067 |
1243 |
7.67e-77 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097343
AA Change: E250G
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000094956 Gene: ENSMUSG00000024369 AA Change: E250G
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
36 |
N/A |
INTRINSIC |
low complexity region
|
147 |
167 |
N/A |
INTRINSIC |
low complexity region
|
184 |
239 |
N/A |
INTRINSIC |
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128767
|
SMART Domains |
Protein: ENSMUSP00000119977 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
CCP
|
34 |
86 |
5.15e-1 |
SMART |
CCP
|
100 |
155 |
4.62e-15 |
SMART |
CCP
|
162 |
215 |
2.06e-12 |
SMART |
VWA
|
265 |
470 |
1.07e-40 |
SMART |
Tryp_SPc
|
478 |
749 |
2.53e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129891
|
SMART Domains |
Protein: ENSMUSP00000120864 Gene: ENSMUSG00000092511
Domain | Start | End | E-Value | Type |
Blast:VWA
|
2 |
77 |
8e-7 |
BLAST |
Tryp_SPc
|
85 |
365 |
5.69e-8 |
SMART |
CCP
|
310 |
365 |
4.62e-15 |
SMART |
CCP
|
372 |
425 |
2.06e-12 |
SMART |
VWA
|
475 |
680 |
1.07e-40 |
SMART |
Tryp_SPc
|
688 |
959 |
2.53e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133127
|
SMART Domains |
Protein: ENSMUSP00000118360 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
PDB:2WIN|L
|
2 |
43 |
2e-20 |
PDB |
Blast:VWA
|
13 |
44 |
9e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141295
|
SMART Domains |
Protein: ENSMUSP00000118945 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
18 |
258 |
3.76e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173357
AA Change: E250G
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000134272 Gene: ENSMUSG00000024369 AA Change: E250G
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
36 |
N/A |
INTRINSIC |
low complexity region
|
147 |
167 |
N/A |
INTRINSIC |
low complexity region
|
184 |
239 |
N/A |
INTRINSIC |
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165953
AA Change: E250G
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131195 Gene: ENSMUSG00000024369 AA Change: E250G
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
36 |
N/A |
INTRINSIC |
low complexity region
|
147 |
167 |
N/A |
INTRINSIC |
low complexity region
|
184 |
239 |
N/A |
INTRINSIC |
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174887
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174888
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153400
|
SMART Domains |
Protein: ENSMUSP00000116497 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
1 |
217 |
2.36e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154526
|
SMART Domains |
Protein: ENSMUSP00000120990 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
CCP
|
34 |
86 |
5.15e-1 |
SMART |
CCP
|
100 |
155 |
4.62e-15 |
SMART |
CCP
|
162 |
215 |
2.06e-12 |
SMART |
VWA
|
265 |
470 |
1.07e-40 |
SMART |
Tryp_SPc
|
478 |
711 |
5.03e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172966
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176203
|
SMART Domains |
Protein: ENSMUSP00000135660 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
CCP
|
36 |
88 |
5.15e-1 |
SMART |
CCP
|
102 |
157 |
4.62e-15 |
SMART |
CCP
|
164 |
217 |
2.06e-12 |
SMART |
VWA
|
267 |
472 |
1.07e-40 |
SMART |
Tryp_SPc
|
480 |
713 |
5.03e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146299
|
SMART Domains |
Protein: ENSMUSP00000117677 Gene: ENSMUSG00000092511
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
CCP
|
94 |
148 |
1.89e-11 |
SMART |
VWA
|
103 |
311 |
1.74e-1 |
SMART |
Tryp_SPc
|
315 |
547 |
1.49e-7 |
SMART |
CCP
|
549 |
601 |
5.15e-1 |
SMART |
CCP
|
615 |
670 |
4.62e-15 |
SMART |
CCP
|
677 |
730 |
2.06e-12 |
SMART |
VWA
|
780 |
985 |
1.07e-40 |
SMART |
Tryp_SPc
|
993 |
1264 |
2.53e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173065
|
SMART Domains |
Protein: ENSMUSP00000133934 Gene: ENSMUSG00000024369
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
36 |
N/A |
INTRINSIC |
low complexity region
|
147 |
167 |
N/A |
INTRINSIC |
low complexity region
|
184 |
228 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184774
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176332
|
Meta Mutation Damage Score |
0.2221 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
98% (52/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
G |
T |
1: 25,586,635 (GRCm39) |
P146T |
probably damaging |
Het |
Ambn |
A |
C |
5: 88,611,309 (GRCm39) |
N163T |
probably benign |
Het |
Ankrd36 |
A |
T |
11: 5,579,322 (GRCm39) |
E870D |
probably benign |
Het |
Cdc123 |
T |
C |
2: 5,803,212 (GRCm39) |
N269S |
probably benign |
Het |
Cdc7 |
A |
T |
5: 107,120,776 (GRCm39) |
|
probably benign |
Het |
Cdh2 |
A |
T |
18: 16,762,738 (GRCm39) |
V402D |
possibly damaging |
Het |
Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
Dcdc5 |
G |
A |
2: 106,180,035 (GRCm39) |
|
noncoding transcript |
Het |
Eif4g3 |
T |
C |
4: 137,903,151 (GRCm39) |
|
probably benign |
Het |
Elovl4 |
C |
T |
9: 83,667,087 (GRCm39) |
|
probably null |
Het |
Fhl5 |
T |
G |
4: 25,213,610 (GRCm39) |
I109L |
probably damaging |
Het |
Gm16181 |
A |
G |
17: 35,442,872 (GRCm39) |
|
probably benign |
Het |
Gna14 |
A |
G |
19: 16,585,483 (GRCm39) |
Y287C |
probably benign |
Het |
Greb1 |
A |
T |
12: 16,730,268 (GRCm39) |
C1720S |
probably benign |
Het |
Gypa |
T |
A |
8: 81,236,089 (GRCm39) |
S165T |
probably benign |
Het |
Hephl1 |
T |
C |
9: 14,993,241 (GRCm39) |
D531G |
probably damaging |
Het |
Hsf2bp |
A |
T |
17: 32,226,692 (GRCm39) |
L221Q |
probably damaging |
Het |
Itsn1 |
A |
G |
16: 91,617,684 (GRCm39) |
|
probably benign |
Het |
Kif7 |
T |
C |
7: 79,352,020 (GRCm39) |
E914G |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
Lrrc28 |
T |
C |
7: 67,195,135 (GRCm39) |
N225S |
probably damaging |
Het |
Lysmd4 |
T |
A |
7: 66,875,925 (GRCm39) |
L196Q |
probably benign |
Het |
Megf8 |
T |
C |
7: 25,041,820 (GRCm39) |
C1245R |
probably damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,777 (GRCm39) |
K183R |
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mindy2 |
T |
A |
9: 70,538,334 (GRCm39) |
I334L |
possibly damaging |
Het |
Mrm1 |
A |
G |
11: 84,705,539 (GRCm39) |
S287P |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,234,056 (GRCm39) |
I382T |
probably damaging |
Het |
Nectin1 |
A |
G |
9: 43,702,342 (GRCm39) |
T30A |
probably benign |
Het |
Nsd1 |
C |
A |
13: 55,394,391 (GRCm39) |
T767K |
possibly damaging |
Het |
Or1i2 |
G |
A |
10: 78,448,467 (GRCm39) |
P3S |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,625,013 (GRCm39) |
K227* |
probably null |
Het |
Or4e5 |
T |
A |
14: 52,727,714 (GRCm39) |
K236* |
probably null |
Het |
Or5b111 |
A |
G |
19: 13,291,112 (GRCm39) |
I179T |
probably benign |
Het |
Pcnx1 |
A |
G |
12: 81,964,718 (GRCm39) |
D295G |
probably damaging |
Het |
Pex14 |
A |
G |
4: 149,046,003 (GRCm39) |
V309A |
possibly damaging |
Het |
Phf14 |
C |
T |
6: 11,933,600 (GRCm39) |
|
probably benign |
Het |
Pnpla6 |
A |
G |
8: 3,573,333 (GRCm39) |
D399G |
possibly damaging |
Het |
Prim1 |
A |
G |
10: 127,862,423 (GRCm39) |
D340G |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,454,207 (GRCm39) |
F564L |
probably damaging |
Het |
Rcc1l |
G |
C |
5: 134,205,394 (GRCm39) |
R54G |
probably benign |
Het |
Rnf151 |
G |
A |
17: 24,936,430 (GRCm39) |
|
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,192,048 (GRCm39) |
L398P |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,769,174 (GRCm39) |
T531I |
probably benign |
Het |
Rps6ka2 |
A |
T |
17: 7,521,836 (GRCm39) |
I198F |
probably damaging |
Het |
Sgk2 |
T |
C |
2: 162,846,164 (GRCm39) |
L264P |
probably damaging |
Het |
Slc26a6 |
T |
A |
9: 108,734,869 (GRCm39) |
I281N |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,935,921 (GRCm39) |
K2657N |
probably benign |
Het |
Tor1aip1 |
G |
A |
1: 155,911,554 (GRCm39) |
T143M |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,284,609 (GRCm39) |
D358G |
probably benign |
Het |
Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
probably damaging |
Het |
Wdr33 |
A |
G |
18: 32,019,792 (GRCm39) |
K488R |
possibly damaging |
Het |
Ythdc2 |
T |
A |
18: 44,997,915 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nelfe |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00543:Nelfe
|
APN |
17 |
35,072,592 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02227:Nelfe
|
APN |
17 |
35,073,330 (GRCm39) |
missense |
probably benign |
0.09 |
FR4342:Nelfe
|
UTSW |
17 |
35,073,065 (GRCm39) |
unclassified |
probably benign |
|
FR4548:Nelfe
|
UTSW |
17 |
35,073,046 (GRCm39) |
unclassified |
probably benign |
|
R0007:Nelfe
|
UTSW |
17 |
35,072,962 (GRCm39) |
unclassified |
probably benign |
|
R2213:Nelfe
|
UTSW |
17 |
35,072,859 (GRCm39) |
missense |
probably benign |
0.03 |
R3802:Nelfe
|
UTSW |
17 |
35,072,877 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5892:Nelfe
|
UTSW |
17 |
35,073,645 (GRCm39) |
unclassified |
probably benign |
|
R6318:Nelfe
|
UTSW |
17 |
35,073,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6625:Nelfe
|
UTSW |
17 |
35,073,334 (GRCm39) |
missense |
probably benign |
0.44 |
R6977:Nelfe
|
UTSW |
17 |
35,073,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R7106:Nelfe
|
UTSW |
17 |
35,071,395 (GRCm39) |
splice site |
probably null |
|
R7205:Nelfe
|
UTSW |
17 |
35,069,912 (GRCm39) |
splice site |
probably null |
|
R8505:Nelfe
|
UTSW |
17 |
35,073,779 (GRCm39) |
splice site |
probably null |
|
R9008:Nelfe
|
UTSW |
17 |
35,073,334 (GRCm39) |
missense |
possibly damaging |
0.90 |
RF055:Nelfe
|
UTSW |
17 |
35,073,038 (GRCm39) |
unclassified |
probably benign |
|
RF056:Nelfe
|
UTSW |
17 |
35,073,047 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCTATGAAGAGCATGGTAGCGCC -3'
(R):5'- AGGAACGGTCTGAGAAGTCCCAAC -3'
Sequencing Primer
(F):5'- gggacaaagagagagacagag -3'
(R):5'- CTTCTCGTAGGTGACGAAGGC -3'
|
Posted On |
2013-06-11 |