Incidental Mutation 'R7106:Nelfe'
| ID |
568520 |
| 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 |
045198-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35069367-35075348 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 35071395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000046022]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000146299]
[ENSMUST00000153400]
[ENSMUST00000154526]
[ENSMUST00000165953]
[ENSMUST00000172966]
[ENSMUST00000173065]
[ENSMUST00000173357]
[ENSMUST00000176203]
|
| 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 |
probably null
Transcript: ENSMUST00000097343
|
| SMART Domains |
Protein: ENSMUSP00000094956
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 |
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 |
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: 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 null
Transcript: ENSMUST00000165953
|
| SMART Domains |
Protein: ENSMUSP00000131195
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 |
239 |
N/A |
INTRINSIC |
|
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172966
|
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000173357
|
| SMART Domains |
Protein: ENSMUSP00000134272
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 |
239 |
N/A |
INTRINSIC |
|
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
| 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: ENSMUST00000176332
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
T |
C |
4: 49,541,258 (GRCm39) |
Y138C |
probably damaging |
Het |
| Ano7 |
A |
C |
1: 93,302,705 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
A |
16: 18,217,799 (GRCm39) |
V497E |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,980,162 (GRCm39) |
|
probably null |
Het |
| Brinp1 |
C |
T |
4: 68,747,615 (GRCm39) |
A163T |
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,965,070 (GRCm39) |
|
probably null |
Het |
| Ccm2l |
A |
G |
2: 152,912,571 (GRCm39) |
H70R |
possibly damaging |
Het |
| Cgnl1 |
G |
A |
9: 71,633,015 (GRCm39) |
T112I |
probably benign |
Het |
| Chid1 |
T |
C |
7: 141,102,573 (GRCm39) |
H220R |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,190 (GRCm39) |
V106A |
probably damaging |
Het |
| Cldn23 |
A |
C |
8: 36,293,069 (GRCm39) |
S140A |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,038,893 (GRCm39) |
S14P |
possibly damaging |
Het |
| Det1 |
T |
C |
7: 78,493,212 (GRCm39) |
D264G |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,454 (GRCm39) |
V368A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,924,884 (GRCm39) |
K3362E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,960,152 (GRCm39) |
F2208L |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,523,798 (GRCm39) |
I477T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,947,591 (GRCm39) |
K482E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,855,563 (GRCm39) |
I1493T |
unknown |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,765 (GRCm39) |
V846A |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,427,140 (GRCm39) |
|
probably null |
Het |
| Fgd2 |
T |
A |
17: 29,595,944 (GRCm39) |
L534* |
probably null |
Het |
| Fgfr3 |
T |
C |
5: 33,888,758 (GRCm39) |
V349A |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,509 (GRCm39) |
I239F |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,514 (GRCm39) |
H250N |
probably benign |
Het |
| Guca1b |
A |
T |
17: 47,702,236 (GRCm39) |
K230* |
probably null |
Het |
| Itga3 |
G |
T |
11: 94,946,699 (GRCm39) |
L737I |
probably benign |
Het |
| Kmt5c |
A |
G |
7: 4,745,705 (GRCm39) |
K122E |
probably damaging |
Het |
| Kpna4 |
G |
A |
3: 68,986,797 (GRCm39) |
Q531* |
probably null |
Het |
| Lctl |
A |
G |
9: 64,040,119 (GRCm39) |
E410G |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,903 (GRCm39) |
N128D |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,202,405 (GRCm39) |
N349D |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,449,903 (GRCm39) |
A209T |
possibly damaging |
Het |
| Mif4gd |
G |
A |
11: 115,502,737 (GRCm39) |
A25V |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,059,680 (GRCm39) |
S1353P |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,659,321 (GRCm39) |
C931R |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,102,183 (GRCm39) |
S161G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,368 (GRCm39) |
Q130* |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,207,017 (GRCm39) |
M525K |
probably benign |
Het |
| Psme2 |
A |
G |
14: 55,825,694 (GRCm39) |
S165P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,973,915 (GRCm39) |
F1477S |
probably benign |
Het |
| Rasef |
A |
T |
4: 73,645,864 (GRCm39) |
C502S |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,780,988 (GRCm39) |
L565* |
probably null |
Het |
| Sav1 |
A |
G |
12: 70,031,390 (GRCm39) |
I44T |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,953,991 (GRCm39) |
I97N |
probably benign |
Het |
| Serpina1d |
A |
G |
12: 103,731,980 (GRCm39) |
F293S |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,450,765 (GRCm39) |
F65L |
possibly damaging |
Het |
| Sorcs3 |
G |
C |
19: 48,694,402 (GRCm39) |
G559R |
probably damaging |
Het |
| Susd2 |
A |
T |
10: 75,473,887 (GRCm39) |
D689E |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,389,360 (GRCm39) |
M448L |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,137,897 (GRCm39) |
I181N |
possibly damaging |
Het |
| Tcea3 |
A |
G |
4: 135,998,679 (GRCm39) |
T318A |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
| Tpp1 |
A |
C |
7: 105,399,118 (GRCm39) |
S153A |
possibly damaging |
Het |
| Trip13 |
C |
T |
13: 74,062,651 (GRCm39) |
V387I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,627,832 (GRCm39) |
I14704V |
probably benign |
Het |
| Uimc1 |
C |
A |
13: 55,198,628 (GRCm39) |
C516F |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,228 (GRCm39) |
N210S |
probably benign |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,296 (GRCm39) |
T227K |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,399,104 (GRCm39) |
I625T |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,222 (GRCm39) |
L98P |
probably benign |
Het |
| Zfp809 |
G |
T |
9: 22,147,520 (GRCm39) |
K51N |
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 |
|
|
R0563:Nelfe
|
UTSW |
17 |
35,073,215 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
|
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'- CTTCGTGAGGATGTGGAAGC -3'
(R):5'- CCGAGAACGTTTGAAGCCTG -3'
Sequencing Primer
(F):5'- GAAGCAGGATGAGCCACTCC -3'
(R):5'- CGAGAACGTTTGAAGCCTGAGTTC -3'
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| Posted On |
2019-08-15 |
Incidental Mutation