Incidental Mutation 'R0593:Nelfcd'
| ID |
56052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nelfcd
|
| Ensembl Gene |
ENSMUSG00000016253 |
| Gene Name |
negative elongation factor complex member C/D, Th1l |
| Synonyms |
Th1l, 2410003I03Rik, trihydrophobin 1 |
| MMRRC Submission |
038783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R0593 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
174257623-174269298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 174265223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 248
(V248L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016397]
[ENSMUST00000016400]
[ENSMUST00000109075]
|
| AlphaFold |
Q922L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016397
AA Change: V264L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253
AA Change: V264L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TH1
|
11 |
604 |
6.5e-276 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016400
|
| SMART Domains |
Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pept_C1
|
64 |
301 |
5.46e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109075
AA Change: V248L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253
AA Change: V248L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TH1
|
10 |
590 |
5.6e-303 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143683
|
| Meta Mutation Damage Score |
0.0672 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,211,723 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,537,156 (GRCm39) |
G29* |
probably null |
Het |
| Arhgap17 |
T |
C |
7: 122,885,966 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
| Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Csnka2ip |
A |
T |
16: 64,298,975 (GRCm39) |
V19D |
probably damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
| Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,780 (GRCm39) |
|
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
| Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
| Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
| Slc22a14 |
T |
A |
9: 118,998,919 (GRCm39) |
D561V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
| Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
probably damaging |
Het |
|
| Other mutations in Nelfcd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01999:Nelfcd
|
APN |
2 |
174,265,308 (GRCm39) |
splice site |
probably benign |
|
|
IGL02175:Nelfcd
|
APN |
2 |
174,262,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02955:Nelfcd
|
APN |
2 |
174,264,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03193:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03194:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03203:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03217:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03237:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03273:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03278:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03289:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03365:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03398:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03405:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03407:Nelfcd
|
APN |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0751:Nelfcd
|
UTSW |
2 |
174,264,807 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1852:Nelfcd
|
UTSW |
2 |
174,265,771 (GRCm39) |
splice site |
probably null |
|
|
R2040:Nelfcd
|
UTSW |
2 |
174,261,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3606:Nelfcd
|
UTSW |
2 |
174,268,337 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3716:Nelfcd
|
UTSW |
2 |
174,264,798 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4235:Nelfcd
|
UTSW |
2 |
174,268,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Nelfcd
|
UTSW |
2 |
174,264,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4775:Nelfcd
|
UTSW |
2 |
174,268,369 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5104:Nelfcd
|
UTSW |
2 |
174,268,159 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5859:Nelfcd
|
UTSW |
2 |
174,268,856 (GRCm39) |
makesense |
probably null |
|
|
R6025:Nelfcd
|
UTSW |
2 |
174,268,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Nelfcd
|
UTSW |
2 |
174,265,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6280:Nelfcd
|
UTSW |
2 |
174,257,739 (GRCm39) |
missense |
probably benign |
|
|
R7249:Nelfcd
|
UTSW |
2 |
174,264,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7382:Nelfcd
|
UTSW |
2 |
174,265,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7532:Nelfcd
|
UTSW |
2 |
174,268,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7545:Nelfcd
|
UTSW |
2 |
174,265,771 (GRCm39) |
splice site |
probably null |
|
|
R7766:Nelfcd
|
UTSW |
2 |
174,268,625 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9011:Nelfcd
|
UTSW |
2 |
174,268,717 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9094:Nelfcd
|
UTSW |
2 |
174,265,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Nelfcd
|
UTSW |
2 |
174,264,978 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9486:Nelfcd
|
UTSW |
2 |
174,268,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Nelfcd
|
UTSW |
2 |
174,266,923 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1088:Nelfcd
|
UTSW |
2 |
174,268,287 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATCTCAGGCTACATGGAGACGG -3'
(R):5'- GTCCTTGGCAAAATGGTCACCAAC -3'
Sequencing Primer
(F):5'- ctgaggccagtcttctgag -3'
(R):5'- AAAATGGTCACCAACAAGGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation