Incidental Mutation 'R2213:Nelfe'
ID |
239558 |
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 |
040215-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2213 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35069367-35075348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35072859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 160
(D160E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000046022]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000173357]
[ENSMUST00000173065]
[ENSMUST00000165953]
[ENSMUST00000146299]
[ENSMUST00000172966]
[ENSMUST00000153400]
[ENSMUST00000154526]
[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: D160E
|
SMART Domains |
Protein: ENSMUSP00000094956 Gene: ENSMUSG00000024369 AA Change: D160E
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 |
unknown
Transcript: ENSMUST00000173357
AA Change: D160E
|
SMART Domains |
Protein: ENSMUSP00000134272 Gene: ENSMUSG00000024369 AA Change: D160E
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: ENSMUST00000173065
AA Change: D160E
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000133934 Gene: ENSMUSG00000024369 AA Change: D160E
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: D160E
|
SMART Domains |
Protein: ENSMUSP00000131195 Gene: ENSMUSG00000024369 AA Change: D160E
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: ENSMUST00000174363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174075
|
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: ENSMUST00000172966
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000174888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174887
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176332
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
C |
13: 4,326,247 (GRCm39) |
D78G |
probably damaging |
Het |
Anxa1 |
C |
T |
19: 20,360,239 (GRCm39) |
R124H |
probably damaging |
Het |
Arhgef4 |
G |
A |
1: 34,846,230 (GRCm39) |
|
probably null |
Het |
C87436 |
G |
A |
6: 86,422,455 (GRCm39) |
V10I |
probably benign |
Het |
Ces1a |
G |
T |
8: 93,751,853 (GRCm39) |
P427Q |
probably damaging |
Het |
Cpm |
T |
C |
10: 117,495,744 (GRCm39) |
Y78H |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,683,843 (GRCm39) |
T1663I |
possibly damaging |
Het |
Cul7 |
T |
C |
17: 46,962,398 (GRCm39) |
F10L |
probably damaging |
Het |
Cyp2j5 |
T |
C |
4: 96,547,852 (GRCm39) |
N130S |
probably benign |
Het |
Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,585,691 (GRCm39) |
L135P |
probably damaging |
Het |
Dixdc1 |
A |
G |
9: 50,613,245 (GRCm39) |
S211P |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,460,485 (GRCm39) |
K970N |
probably benign |
Het |
Eps15 |
A |
G |
4: 109,218,417 (GRCm39) |
K391E |
probably damaging |
Het |
Fabp9 |
A |
G |
3: 10,259,860 (GRCm39) |
V51A |
probably damaging |
Het |
Flg |
T |
C |
3: 93,200,335 (GRCm39) |
|
probably benign |
Het |
Flnb |
AAGGAG |
AAG |
14: 7,881,652 (GRCm38) |
|
probably benign |
Het |
Fscb |
A |
T |
12: 64,520,890 (GRCm39) |
I192N |
possibly damaging |
Het |
Galntl5 |
A |
G |
5: 25,422,527 (GRCm39) |
I333V |
probably benign |
Het |
Gcnt3 |
A |
T |
9: 69,941,989 (GRCm39) |
V193E |
probably benign |
Het |
Gle1 |
T |
C |
2: 29,839,313 (GRCm39) |
F535S |
probably damaging |
Het |
Gpr87 |
A |
T |
3: 59,086,465 (GRCm39) |
S347T |
probably damaging |
Het |
Gstm2 |
C |
T |
3: 107,893,409 (GRCm39) |
R18H |
probably damaging |
Het |
H1f7 |
T |
A |
15: 98,154,219 (GRCm39) |
Q310L |
unknown |
Het |
Haus6 |
C |
T |
4: 86,500,229 (GRCm39) |
E927K |
possibly damaging |
Het |
Hunk |
A |
G |
16: 90,229,505 (GRCm39) |
N122S |
probably damaging |
Het |
Itih4 |
T |
A |
14: 30,612,670 (GRCm39) |
V232E |
probably damaging |
Het |
Jag1 |
G |
T |
2: 136,931,812 (GRCm39) |
D586E |
probably benign |
Het |
Klk1b1 |
T |
C |
7: 43,619,905 (GRCm39) |
S155P |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,084,029 (GRCm39) |
G1424* |
probably null |
Het |
Lrp1 |
T |
A |
10: 127,376,571 (GRCm39) |
N4279I |
probably damaging |
Het |
Lrrc43 |
G |
A |
5: 123,641,640 (GRCm39) |
V525I |
possibly damaging |
Het |
Lrrc4c |
G |
A |
2: 97,460,816 (GRCm39) |
V481M |
probably benign |
Het |
Mecr |
T |
A |
4: 131,581,126 (GRCm39) |
|
probably null |
Het |
Megf10 |
T |
A |
18: 57,421,081 (GRCm39) |
Y906* |
probably null |
Het |
Mpdz |
A |
G |
4: 81,228,409 (GRCm39) |
F1319L |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,248,780 (GRCm39) |
E364G |
possibly damaging |
Het |
Nin |
A |
G |
12: 70,092,128 (GRCm39) |
L727P |
probably damaging |
Het |
Npat |
A |
G |
9: 53,463,681 (GRCm39) |
T155A |
probably benign |
Het |
Nup58 |
T |
C |
14: 60,476,945 (GRCm39) |
D242G |
probably benign |
Het |
Or4a78 |
A |
T |
2: 89,497,891 (GRCm39) |
L113Q |
probably damaging |
Het |
Pnlip |
T |
C |
19: 58,662,202 (GRCm39) |
V116A |
probably benign |
Het |
Prl7a2 |
T |
A |
13: 27,849,051 (GRCm39) |
L79F |
probably benign |
Het |
Rbm25 |
A |
T |
12: 83,722,856 (GRCm39) |
I760L |
probably benign |
Het |
Rbms3 |
A |
T |
9: 116,788,534 (GRCm39) |
|
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rps10 |
C |
A |
17: 27,849,473 (GRCm39) |
|
probably benign |
Het |
Slc35e4 |
T |
C |
11: 3,863,159 (GRCm39) |
E10G |
possibly damaging |
Het |
Smad2 |
A |
T |
18: 76,437,697 (GRCm39) |
T434S |
probably damaging |
Het |
Sox30 |
C |
T |
11: 45,875,679 (GRCm39) |
S477F |
probably damaging |
Het |
Speer4a3 |
G |
T |
5: 26,158,175 (GRCm39) |
T59K |
probably benign |
Het |
Stat4 |
A |
T |
1: 52,053,014 (GRCm39) |
D65V |
probably damaging |
Het |
Strip2 |
A |
G |
6: 29,931,147 (GRCm39) |
D366G |
probably damaging |
Het |
Syngap1 |
C |
A |
17: 27,172,043 (GRCm39) |
R84S |
probably damaging |
Het |
Synpo2l |
A |
G |
14: 20,710,734 (GRCm39) |
Y629H |
probably damaging |
Het |
Taf4 |
A |
T |
2: 179,577,683 (GRCm39) |
|
probably null |
Het |
Ttc21a |
A |
G |
9: 119,769,527 (GRCm39) |
H68R |
probably benign |
Het |
Txndc8 |
T |
A |
4: 57,984,199 (GRCm39) |
Q144L |
probably benign |
Het |
Tyr |
T |
G |
7: 87,142,086 (GRCm39) |
Q158P |
probably damaging |
Het |
Uchl3 |
T |
A |
14: 101,904,106 (GRCm39) |
|
probably null |
Het |
Vwa5b1 |
T |
C |
4: 138,332,123 (GRCm39) |
K298R |
probably benign |
Het |
Wrn |
T |
C |
8: 33,747,043 (GRCm39) |
N891S |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,116,492 (GRCm39) |
S2125G |
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 |
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'- TGACTGGAAAGTTCAGGGC -3'
(R):5'- ATCACTCACTGCGGAAAGGG -3'
Sequencing Primer
(F):5'- CTGGAAAGTTCAGGGCTAGAGTG -3'
(R):5'- AAAGGGCCCTCTCGGTCTC -3'
|
Posted On |
2014-10-15 |