Incidental Mutation 'R8168:Nelfa'
| ID |
633900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nelfa
|
| Ensembl Gene |
ENSMUSG00000029111 |
| Gene Name |
negative elongation factor complex member A, Whsc2 |
| Synonyms |
Whsc2h, Nelf-A, Whsc2 |
| MMRRC Submission |
067594-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34055263-34093615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34079251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 107
(N107K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030993]
|
| AlphaFold |
Q8BG30 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030993
AA Change: N107K
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030993
Gene: ENSMUSG00000029111
AA Change: N107K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
429 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,816,857 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,831 (GRCm39) |
T862A |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,560,983 (GRCm39) |
S404P |
possibly damaging |
Het |
| Catsperz |
A |
G |
19: 6,900,020 (GRCm39) |
S162P |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,818,778 (GRCm39) |
A150T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,744,739 (GRCm39) |
S2170T |
unknown |
Het |
| Copa |
A |
T |
1: 171,927,239 (GRCm39) |
H204L |
probably damaging |
Het |
| Cwc22 |
A |
C |
2: 77,757,615 (GRCm39) |
V171G |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,007,646 (GRCm39) |
|
probably null |
Het |
| Flrt1 |
G |
A |
19: 7,074,002 (GRCm39) |
L182F |
probably damaging |
Het |
| Foxf1 |
T |
C |
8: 121,811,901 (GRCm39) |
V255A |
probably damaging |
Het |
| Gnptab |
G |
T |
10: 88,254,995 (GRCm39) |
A194S |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,526,686 (GRCm39) |
R386C |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,506,695 (GRCm39) |
T16S |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,282 (GRCm39) |
F52S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,040,300 (GRCm39) |
N2154S |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,675,094 (GRCm39) |
D952V |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,639,999 (GRCm39) |
W65R |
probably null |
Het |
| Mef2c |
G |
T |
13: 83,804,469 (GRCm39) |
L356F |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,201,767 (GRCm39) |
S319R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,720,732 (GRCm39) |
V288I |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,711,968 (GRCm39) |
I713N |
probably damaging |
Het |
| Nim1k |
A |
T |
13: 120,174,288 (GRCm39) |
V202D |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,206 (GRCm39) |
T726A |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,120 (GRCm39) |
M274L |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,543 (GRCm39) |
H159L |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,975,401 (GRCm39) |
P330L |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,258,263 (GRCm39) |
A514T |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,601 (GRCm39) |
E357D |
unknown |
Het |
| Ptp4a3 |
T |
G |
15: 73,628,695 (GRCm39) |
Y152D |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,538,779 (GRCm39) |
C389R |
unknown |
Het |
| Rcc1 |
T |
C |
4: 132,063,096 (GRCm39) |
E170G |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,942,300 (GRCm39) |
T775M |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,141,695 (GRCm39) |
V1825D |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,478,739 (GRCm39) |
H195Q |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,096 (GRCm39) |
D254V |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,726,912 (GRCm39) |
I244M |
probably benign |
Het |
|
| Other mutations in Nelfa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Nelfa
|
APN |
5 |
34,056,146 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0590:Nelfa
|
UTSW |
5 |
34,059,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Nelfa
|
UTSW |
5 |
34,060,807 (GRCm39) |
splice site |
probably benign |
|
|
R1533:Nelfa
|
UTSW |
5 |
34,056,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2181:Nelfa
|
UTSW |
5 |
34,057,853 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4246:Nelfa
|
UTSW |
5 |
34,056,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4398:Nelfa
|
UTSW |
5 |
34,058,623 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4657:Nelfa
|
UTSW |
5 |
34,059,157 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4973:Nelfa
|
UTSW |
5 |
34,059,162 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5424:Nelfa
|
UTSW |
5 |
34,079,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5614:Nelfa
|
UTSW |
5 |
34,077,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Nelfa
|
UTSW |
5 |
34,056,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6135:Nelfa
|
UTSW |
5 |
34,056,620 (GRCm39) |
splice site |
probably null |
|
|
R6153:Nelfa
|
UTSW |
5 |
34,056,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Nelfa
|
UTSW |
5 |
34,056,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Nelfa
|
UTSW |
5 |
34,079,357 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8446:Nelfa
|
UTSW |
5 |
34,058,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8971:Nelfa
|
UTSW |
5 |
34,093,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9474:Nelfa
|
UTSW |
5 |
34,056,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Nelfa
|
UTSW |
5 |
34,059,127 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTATAAGGAGCCATGGC -3'
(R):5'- GGAAGCATAGGCACAGTCTG -3'
Sequencing Primer
(F):5'- TGTATAAGGAGCCATGGCATACTAC -3'
(R):5'- CAGGGGACATTTTAAGCTGTCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation