Incidental Mutation 'R2181:Nelfa'
| ID |
237182 |
| 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 |
040183-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2181 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34055263-34093615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34057853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 314
(N314D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030993]
[ENSMUST00000058096]
[ENSMUST00000066854]
[ENSMUST00000075812]
[ENSMUST00000137191]
[ENSMUST00000139845]
|
| AlphaFold |
Q8BG30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030993
AA Change: N314D
PolyPhen 2
Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030993
Gene: ENSMUSG00000029111
AA Change: N314D
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058096
|
| SMART Domains |
Protein: ENSMUSP00000058940
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
PWWP
|
220 |
285 |
3.84e-15 |
SMART |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
643 |
N/A |
INTRINSIC |
|
PHD
|
669 |
711 |
1.36e-6 |
SMART |
|
RING
|
670 |
710 |
1.5e1 |
SMART |
|
PHD
|
716 |
763 |
6.81e-1 |
SMART |
|
RING
|
717 |
762 |
5.25e-2 |
SMART |
|
PHD
|
833 |
873 |
2.35e-10 |
SMART |
|
PWWP
|
878 |
940 |
2.67e-23 |
SMART |
|
AWS
|
1011 |
1062 |
3.74e-27 |
SMART |
|
SET
|
1063 |
1186 |
4.48e-43 |
SMART |
|
PostSET
|
1187 |
1203 |
7.56e-4 |
SMART |
|
low complexity region
|
1215 |
1236 |
N/A |
INTRINSIC |
|
PHD
|
1241 |
1284 |
1.98e-8 |
SMART |
|
low complexity region
|
1347 |
1360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066854
|
| SMART Domains |
Protein: ENSMUSP00000067205
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
PWWP
|
220 |
285 |
3.84e-15 |
SMART |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
644 |
N/A |
INTRINSIC |
|
PHD
|
670 |
712 |
1.36e-6 |
SMART |
|
RING
|
671 |
711 |
1.5e1 |
SMART |
|
PHD
|
717 |
764 |
6.81e-1 |
SMART |
|
RING
|
718 |
763 |
5.25e-2 |
SMART |
|
PHD
|
834 |
874 |
2.35e-10 |
SMART |
|
PWWP
|
879 |
941 |
2.67e-23 |
SMART |
|
AWS
|
1012 |
1063 |
3.74e-27 |
SMART |
|
SET
|
1064 |
1187 |
4.48e-43 |
SMART |
|
PostSET
|
1188 |
1204 |
7.56e-4 |
SMART |
|
low complexity region
|
1216 |
1237 |
N/A |
INTRINSIC |
|
PHD
|
1242 |
1285 |
1.98e-8 |
SMART |
|
low complexity region
|
1348 |
1361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075812
|
| SMART Domains |
Protein: ENSMUSP00000075210
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
PWWP
|
220 |
285 |
3.84e-15 |
SMART |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
644 |
N/A |
INTRINSIC |
|
PHD
|
670 |
712 |
1.36e-6 |
SMART |
|
RING
|
671 |
711 |
1.5e1 |
SMART |
|
PHD
|
717 |
764 |
6.81e-1 |
SMART |
|
RING
|
718 |
763 |
5.25e-2 |
SMART |
|
PHD
|
834 |
874 |
2.35e-10 |
SMART |
|
PWWP
|
879 |
941 |
2.67e-23 |
SMART |
|
AWS
|
1012 |
1063 |
3.74e-27 |
SMART |
|
SET
|
1064 |
1187 |
4.48e-43 |
SMART |
|
PostSET
|
1188 |
1204 |
7.56e-4 |
SMART |
|
low complexity region
|
1216 |
1237 |
N/A |
INTRINSIC |
|
PHD
|
1242 |
1285 |
1.98e-8 |
SMART |
|
low complexity region
|
1348 |
1361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137191
|
| SMART Domains |
Protein: ENSMUSP00000122310
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
220 |
332 |
4.9e-26 |
PFAM |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139845
|
| SMART Domains |
Protein: ENSMUSP00000123460
Gene: ENSMUSG00000057406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
220 |
332 |
4.9e-26 |
PFAM |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
HMG
|
452 |
522 |
7.64e-9 |
SMART |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183676
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,112 (GRCm39) |
T114A |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,765 (GRCm39) |
L581Q |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
| Gorasp1 |
A |
G |
9: 119,757,422 (GRCm39) |
S317P |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,520,951 (GRCm39) |
E168G |
probably damaging |
Het |
| Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
| Mmp28 |
A |
C |
11: 83,333,543 (GRCm39) |
V466G |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
| Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,595 (GRCm39) |
C284* |
probably null |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
| Zfp811 |
T |
G |
17: 33,016,695 (GRCm39) |
K448N |
probably damaging |
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 |
|
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 |
|
R8168:Nelfa
|
UTSW |
5 |
34,079,251 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- AGCAGTACCTGTGAGCTTCC -3'
(R):5'- GGTTAGAGAAGCCACTATCCCG -3'
Sequencing Primer
(F):5'- GAGCTTCCCAGGTTGGTATACC -3'
(R):5'- GGCCCTGGGGATAGAAGTACTTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation