Incidental Mutation 'R8505:Nelfe'
| ID |
655538 |
| 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 |
067841-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35069367-35075348 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 35073779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000046022]
[ENSMUST00000097343]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000146299]
[ENSMUST00000153400]
[ENSMUST00000154526]
[ENSMUST00000165953]
[ENSMUST00000165953]
[ENSMUST00000172966]
[ENSMUST00000173065]
[ENSMUST00000173357]
[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 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 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 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 |
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 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,593,471 (GRCm39) |
K289N |
probably damaging |
Het |
| Adamts5 |
C |
A |
16: 85,696,944 (GRCm39) |
S71I |
probably benign |
Het |
| Astn2 |
T |
C |
4: 65,299,825 (GRCm39) |
Y1308C |
unknown |
Het |
| Cfap54 |
A |
C |
10: 92,814,855 (GRCm39) |
M1326R |
probably benign |
Het |
| Chga |
A |
G |
12: 102,528,004 (GRCm39) |
E165G |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,592,750 (GRCm39) |
I216F |
probably benign |
Het |
| D930048N14Rik |
GGG |
GGGG |
11: 51,541,946 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,797,145 (GRCm39) |
W2198R |
probably damaging |
Het |
| Hs3st3a1 |
T |
A |
11: 64,411,614 (GRCm39) |
M384K |
possibly damaging |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,248 (GRCm39) |
V15E |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,673,913 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,919,007 (GRCm39) |
T432N |
probably benign |
Het |
| Morn1 |
A |
C |
4: 155,177,792 (GRCm39) |
E201A |
unknown |
Het |
| Myo5c |
T |
A |
9: 75,153,423 (GRCm39) |
I103N |
probably damaging |
Het |
| Neo1 |
C |
A |
9: 58,820,566 (GRCm39) |
V786L |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,540,163 (GRCm39) |
V821E |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,439,084 (GRCm38) |
F111S |
|
Het |
| Rapgef2 |
G |
A |
3: 78,986,349 (GRCm39) |
R1064* |
probably null |
Het |
| Rpusd2 |
A |
G |
2: 118,869,007 (GRCm39) |
I477V |
probably benign |
Het |
| Rrm2 |
A |
G |
12: 24,759,384 (GRCm39) |
I128V |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,506,215 (GRCm39) |
V3469E |
probably damaging |
Het |
| Sowahb |
T |
A |
5: 93,190,450 (GRCm39) |
E756D |
possibly damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Stk35 |
C |
T |
2: 129,643,649 (GRCm39) |
A211V |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,943,017 (GRCm39) |
H141R |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,606,475 (GRCm39) |
I493T |
probably benign |
Het |
| Them4 |
A |
T |
3: 94,224,847 (GRCm39) |
T75S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,088,438 (GRCm39) |
D723G |
probably null |
Het |
| Tnn |
T |
C |
1: 159,973,593 (GRCm39) |
D258G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,745,779 (GRCm39) |
I5090T |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,156,880 (GRCm39) |
G1013S |
|
Het |
| Utp20 |
A |
G |
10: 88,653,870 (GRCm39) |
L250P |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,317 (GRCm39) |
T204A |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,830,119 (GRCm39) |
T629A |
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 |
|
R7106:Nelfe
|
UTSW |
17 |
35,071,395 (GRCm39) |
splice site |
probably null |
|
|
R7205:Nelfe
|
UTSW |
17 |
35,069,912 (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'- ACATTCCTGGTTGGTCTCCCAG -3'
(R):5'- TGTGACAGAGGACCCTGTTC -3'
Sequencing Primer
(F):5'- TTGGTCTCCCAGGGCAG -3'
(R):5'- TGAACTCTGCTCTGTAGACCAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation