Incidental Mutation 'R3802:Nelfe'
| ID |
274378 |
| 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 |
040761-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3802 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35069367-35075348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35072877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 166
(F166L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000046022]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000173357]
[ENSMUST00000173065]
[ENSMUST00000165953]
[ENSMUST00000172966]
[ENSMUST00000146299]
[ENSMUST00000154526]
[ENSMUST00000153400]
[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 |
unknown
Transcript: ENSMUST00000097343
AA Change: F166L
|
| SMART Domains |
Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369
AA Change: F166L
| 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 |
unknown
Transcript: ENSMUST00000173357
AA Change: F166L
|
| SMART Domains |
Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369
AA Change: F166L
| 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: ENSMUST00000173065
AA Change: F166L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133934
Gene: ENSMUSG00000024369
AA Change: F166L
| 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 |
unknown
Transcript: ENSMUST00000165953
AA Change: F166L
|
| SMART Domains |
Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369
AA Change: F166L
| 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: ENSMUST00000173775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172966
|
| 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000184774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176332
|
| Meta Mutation Damage Score |
0.0602 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
T |
4: 144,430,074 (GRCm39) |
L305Q |
possibly damaging |
Het |
| Abcc2 |
C |
A |
19: 43,810,065 (GRCm39) |
N874K |
probably benign |
Het |
| Axl |
A |
T |
7: 25,487,902 (GRCm39) |
M1K |
probably null |
Het |
| Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
| Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
| Cfap20dc |
G |
T |
14: 8,510,931 (GRCm38) |
D494E |
probably benign |
Het |
| Cfap58 |
G |
T |
19: 47,941,498 (GRCm39) |
D289Y |
possibly damaging |
Het |
| Cnn2 |
A |
G |
10: 79,829,329 (GRCm39) |
D153G |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,616 (GRCm39) |
H62R |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,365,164 (GRCm39) |
I1625V |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,582,943 (GRCm39) |
D309N |
possibly damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,278,566 (GRCm39) |
E298G |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,024,705 (GRCm39) |
D2173G |
possibly damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,441 (GRCm39) |
V231E |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,056,955 (GRCm39) |
V638E |
possibly damaging |
Het |
| Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,777,820 (GRCm39) |
N1788K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,970,376 (GRCm39) |
Y373C |
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,247,484 (GRCm39) |
G1940D |
probably benign |
Het |
| Nfatc3 |
A |
G |
8: 106,806,277 (GRCm39) |
Y374C |
probably damaging |
Het |
| Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,372 (GRCm39) |
Y289C |
probably benign |
Het |
| Or8g33 |
G |
A |
9: 39,337,582 (GRCm39) |
P262S |
probably damaging |
Het |
| Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
| Papolg |
A |
T |
11: 23,826,449 (GRCm39) |
I235N |
probably damaging |
Het |
| Pdgfrl |
T |
C |
8: 41,438,594 (GRCm39) |
S177P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
| Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,873,311 (GRCm39) |
V259A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
| Tas2r106 |
C |
A |
6: 131,655,329 (GRCm39) |
S174I |
probably benign |
Het |
| Tektl1 |
A |
C |
10: 78,584,314 (GRCm39) |
F367C |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,233,026 (GRCm39) |
F93I |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,552,829 (GRCm39) |
M809K |
probably damaging |
Het |
| Zfp260 |
G |
A |
7: 29,804,504 (GRCm39) |
E135K |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,094,365 (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 |
|
|
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 |
|
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'- TGACTGGAAAGTTCAGGGCTAG -3'
(R):5'- ATCACTCACTGCGGAAAGGG -3'
Sequencing Primer
(F):5'- CTGGAAAGTTCAGGGCTAGAGTGG -3'
(R):5'- AAAGGGCCCTCTCGGTCTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation