Incidental Mutation 'R5299:Nelfb'
| ID |
405556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nelfb
|
| Ensembl Gene |
ENSMUSG00000013465 |
| Gene Name |
negative elongation factor complex member B |
| Synonyms |
A730008L03Rik, Cobra1 |
| MMRRC Submission |
042882-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5299 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25089724-25101501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25100757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 128
(V128A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043774]
[ENSMUST00000059849]
[ENSMUST00000114363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043774
|
| SMART Domains |
Protein: ENSMUSP00000037603
Gene: ENSMUSG00000036770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
103 |
145 |
9.5e-4 |
PFAM |
|
Pfam:SHIPPO-rpt
|
226 |
255 |
1.4e-3 |
PFAM |
|
Pfam:SHIPPO-rpt
|
265 |
291 |
1.4e-3 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059849
AA Change: V128A
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: V128A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COBRA1
|
107 |
578 |
3.5e-248 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114363
|
| SMART Domains |
Protein: ENSMUSP00000110003
Gene: ENSMUSG00000036770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
48 |
79 |
2.8e-4 |
PFAM |
|
Pfam:SHIPPO-rpt
|
110 |
136 |
1.2e-1 |
PFAM |
|
Pfam:SHIPPO-rpt
|
152 |
200 |
3.5e-1 |
PFAM |
|
Pfam:SHIPPO-rpt
|
210 |
248 |
1.9e-3 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205741
AA Change: V77A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149509
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140934
|
| SMART Domains |
Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COBRA1
|
40 |
204 |
9.7e-106 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes subunit B of a metazoan-specific, four-subunit protein complex that regulates promoter-proximal pausing of RNA polymerase II. RNA polymerase II pausing is thought to be important for coordination of gene transcription during embryonic development and stress responses. Consistently, disruption of this gene in mouse causes inner cell mass deficiency and embryonic lethality. In addition, this gene is required for maintenance of mouse embryonic stem cells by preventing expression of developmental genes. In adult mice, conditional deletion of this gene results in cardiomyopathy and impaired response to cardiac stress. Multiple protein isoforms are encoded through the use of a non-AUG (CUG) initiation codon and an alternative downstream AUG initiation codon. In addition, alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,381,861 (GRCm39) |
I3838V |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,537 (GRCm39) |
D1231E |
unknown |
Het |
| Atxn1 |
A |
T |
13: 45,710,730 (GRCm39) |
I734K |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,708 (GRCm39) |
S330G |
probably damaging |
Het |
| Bend3 |
G |
A |
10: 43,369,686 (GRCm39) |
|
probably null |
Het |
| Chodl |
C |
T |
16: 78,738,296 (GRCm39) |
T88I |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,173 (GRCm39) |
I179M |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,055,901 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,342,799 (GRCm39) |
E45G |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,745,119 (GRCm39) |
Y144C |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,620,998 (GRCm39) |
D109G |
probably damaging |
Het |
| Igtp |
T |
C |
11: 58,097,959 (GRCm39) |
W377R |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map2k6 |
A |
G |
11: 110,383,789 (GRCm39) |
D145G |
probably benign |
Het |
| Mcph1 |
T |
C |
8: 18,702,596 (GRCm39) |
|
probably benign |
Het |
| Mdfi |
A |
G |
17: 48,131,759 (GRCm39) |
V95A |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,473 (GRCm39) |
L1351P |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,491,926 (GRCm39) |
Q1506* |
probably null |
Het |
| Otog |
A |
G |
7: 45,938,275 (GRCm39) |
T1995A |
probably benign |
Het |
| Ppp1r7 |
A |
T |
1: 93,280,348 (GRCm39) |
I139L |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,768,340 (GRCm39) |
D19G |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,096,078 (GRCm39) |
S150P |
probably damaging |
Het |
| Rhof |
A |
G |
5: 123,258,611 (GRCm39) |
V100A |
probably damaging |
Het |
| Rsbn1 |
G |
C |
3: 103,821,806 (GRCm39) |
G14R |
probably benign |
Het |
| Serinc1 |
A |
G |
10: 57,399,147 (GRCm39) |
I252T |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,203 (GRCm39) |
I309F |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,078,417 (GRCm39) |
Y815C |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,073,668 (GRCm39) |
S424G |
probably benign |
Het |
| Spint2 |
G |
A |
7: 28,963,151 (GRCm39) |
A49V |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,860,483 (GRCm39) |
K480* |
probably null |
Het |
| Ube2g2 |
T |
C |
10: 77,480,379 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ubxn8 |
C |
A |
8: 34,131,947 (GRCm39) |
V7L |
possibly damaging |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,945 (GRCm39) |
C249* |
probably null |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,682 (GRCm39) |
T145S |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,455,765 (GRCm39) |
|
probably null |
Het |
| Wfdc6a |
T |
C |
2: 164,422,311 (GRCm39) |
N96S |
possibly damaging |
Het |
| Zfp503 |
A |
G |
14: 22,035,507 (GRCm39) |
S470P |
probably benign |
Het |
|
| Other mutations in Nelfb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Nelfb
|
APN |
2 |
25,094,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01573:Nelfb
|
APN |
2 |
25,093,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03109:Nelfb
|
APN |
2 |
25,091,073 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03255:Nelfb
|
APN |
2 |
25,093,207 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0541:Nelfb
|
UTSW |
2 |
25,093,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2046:Nelfb
|
UTSW |
2 |
25,096,323 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4832:Nelfb
|
UTSW |
2 |
25,099,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Nelfb
|
UTSW |
2 |
25,096,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5663:Nelfb
|
UTSW |
2 |
25,093,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5854:Nelfb
|
UTSW |
2 |
25,100,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Nelfb
|
UTSW |
2 |
25,093,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Nelfb
|
UTSW |
2 |
25,093,393 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7025:Nelfb
|
UTSW |
2 |
25,100,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Nelfb
|
UTSW |
2 |
25,095,171 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8966:Nelfb
|
UTSW |
2 |
25,090,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Nelfb
|
UTSW |
2 |
25,096,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Nelfb
|
UTSW |
2 |
25,094,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9373:Nelfb
|
UTSW |
2 |
25,095,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9786:Nelfb
|
UTSW |
2 |
25,095,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTCTCCACATGCAGAAC -3'
(R):5'- TATGGCGGACCCTAGTACTC -3'
Sequencing Primer
(F):5'- GTGTCTCCACATGCAGAACATACAG -3'
(R):5'- GGACCCTAGTACTCGGCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation