Incidental Mutation 'IGL02227:Nelfe'
| ID |
285580 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nelfe
|
| Ensembl Gene |
ENSMUSG00000024369 |
| Gene Name |
negative elongation factor complex member E, Rdbp |
| Synonyms |
NELF-E, Rdbp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35069367-35075348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35073330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 288
(D288E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000046022]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000173357]
[ENSMUST00000165953]
[ENSMUST00000154526]
[ENSMUST00000146299]
[ENSMUST00000153400]
[ENSMUST00000173065]
[ENSMUST00000172966]
[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 benign
Transcript: ENSMUST00000097343
AA Change: D288E
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369
AA Change: D288E
| 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: ENSMUST00000173357
AA Change: D288E
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369
AA Change: D288E
| 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: ENSMUST00000165953
AA Change: D288E
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369
AA Change: D288E
| 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: ENSMUST00000174226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173775
|
| 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: 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: 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 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 |
noncoding transcript
Transcript: ENSMUST00000184774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176332
|
| Coding Region Coverage |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,987,402 (GRCm39) |
E662G |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,881,196 (GRCm39) |
S262P |
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,591,497 (GRCm39) |
V263A |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,123,152 (GRCm39) |
L454P |
probably damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,816,164 (GRCm39) |
F280I |
possibly damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,695,261 (GRCm39) |
H485N |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,732 (GRCm39) |
S91P |
possibly damaging |
Het |
| Bcorl1 |
T |
C |
X: 47,458,237 (GRCm39) |
V590A |
probably benign |
Het |
| Brf1 |
C |
A |
12: 112,925,394 (GRCm39) |
R590S |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,296,788 (GRCm39) |
D197V |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,284 (GRCm39) |
V163A |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,632,217 (GRCm39) |
E257G |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,989 (GRCm39) |
D564G |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,762,643 (GRCm39) |
V434I |
probably benign |
Het |
| Cfap410 |
A |
G |
10: 77,818,784 (GRCm39) |
N152D |
possibly damaging |
Het |
| Cltc |
C |
T |
11: 86,588,166 (GRCm39) |
V1610M |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,198 (GRCm39) |
F473L |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,939,254 (GRCm39) |
K165E |
probably damaging |
Het |
| Duox2 |
A |
T |
2: 122,115,634 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,821,587 (GRCm39) |
S251G |
possibly damaging |
Het |
| Epn1 |
T |
A |
7: 5,098,035 (GRCm39) |
V282E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,476,696 (GRCm39) |
L1914P |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,349 (GRCm39) |
I611T |
possibly damaging |
Het |
| Fgd6 |
G |
T |
10: 93,969,946 (GRCm39) |
M1198I |
probably damaging |
Het |
| Frmpd4 |
T |
A |
X: 166,275,931 (GRCm39) |
I379F |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,852,126 (GRCm39) |
D123E |
probably benign |
Het |
| Hc |
T |
G |
2: 34,899,923 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,981,089 (GRCm39) |
Y781C |
probably damaging |
Het |
| Hfe |
T |
C |
13: 23,890,926 (GRCm39) |
E71G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,116,919 (GRCm39) |
|
probably benign |
Het |
| Ifnk |
G |
A |
4: 35,152,642 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
A |
15: 44,977,670 (GRCm39) |
G123C |
probably damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,633 (GRCm39) |
I32N |
possibly damaging |
Het |
| Lpl |
T |
C |
8: 69,348,452 (GRCm39) |
V227A |
probably damaging |
Het |
| Lurap1l |
A |
T |
4: 80,872,094 (GRCm39) |
S196C |
probably damaging |
Het |
| Mta1 |
T |
C |
12: 113,084,528 (GRCm39) |
L91P |
possibly damaging |
Het |
| Or5p1 |
T |
A |
7: 107,916,408 (GRCm39) |
C102* |
probably null |
Het |
| Otof |
T |
C |
5: 30,528,128 (GRCm39) |
E1905G |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,323 (GRCm39) |
I148T |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,913,425 (GRCm39) |
V145F |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,056,474 (GRCm39) |
S4510P |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,434,397 (GRCm39) |
E641G |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,299,779 (GRCm39) |
L96S |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,105,185 (GRCm39) |
T434M |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,568,245 (GRCm39) |
N184K |
possibly damaging |
Het |
| Prkar1a |
G |
A |
11: 109,551,001 (GRCm39) |
|
probably benign |
Het |
| Psmb1 |
A |
T |
17: 15,710,546 (GRCm39) |
M1K |
probably null |
Het |
| Pwwp2a |
T |
C |
11: 43,596,448 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,719,527 (GRCm39) |
R516W |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,487,172 (GRCm39) |
D601G |
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,565,356 (GRCm39) |
V467A |
possibly damaging |
Het |
| Slc8a3 |
T |
G |
12: 81,362,457 (GRCm39) |
T121P |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,939,401 (GRCm39) |
C197* |
probably null |
Het |
| Srrt |
G |
A |
5: 137,294,536 (GRCm39) |
T790M |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,936,453 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
G |
A |
6: 132,928,357 (GRCm39) |
W98* |
probably null |
Het |
| Thoc5 |
A |
C |
11: 4,876,217 (GRCm39) |
M609L |
probably benign |
Het |
| Tnip1 |
G |
A |
11: 54,827,297 (GRCm39) |
T155M |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,618,672 (GRCm39) |
V14458A |
probably benign |
Het |
| Unc5cl |
A |
G |
17: 48,766,809 (GRCm39) |
E61G |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,877,307 (GRCm39) |
K151E |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,378 (GRCm39) |
M260V |
probably benign |
Het |
| Vwa7 |
G |
T |
17: 35,239,060 (GRCm39) |
R345L |
probably damaging |
Het |
| Zfp366 |
G |
T |
13: 99,370,696 (GRCm39) |
R472L |
possibly damaging |
Het |
| Zfp811 |
A |
T |
17: 33,017,616 (GRCm39) |
Y141* |
probably null |
Het |
| Zpbp |
C |
T |
11: 11,365,248 (GRCm39) |
E200K |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation