Incidental Mutation 'R5404:Narf'
| ID |
428637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Narf
|
| Ensembl Gene |
ENSMUSG00000000056 |
| Gene Name |
nuclear prelamin A recognition factor |
| Synonyms |
4430402O11Rik |
| MMRRC Submission |
042975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R5404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
121128079-121146682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121133452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 84
(H84Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103015]
|
| AlphaFold |
Q9CYQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103015
AA Change: H84Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056
AA Change: H84Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fe_hyd_lg_C
|
98 |
391 |
1e-75 |
PFAM |
|
Fe_hyd_SSU
|
396 |
452 |
5.66e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154047
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [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 |
|---|
| A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
| Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
| Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
| Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
| Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
| Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
| Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
| Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
| Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
| Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
| Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
| Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
| Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
possibly damaging |
Het |
|
| Other mutations in Narf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Narf
|
APN |
11 |
121,129,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0128:Narf
|
UTSW |
11 |
121,141,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Narf
|
UTSW |
11 |
121,143,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1326:Narf
|
UTSW |
11 |
121,133,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Narf
|
UTSW |
11 |
121,129,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Narf
|
UTSW |
11 |
121,141,195 (GRCm39) |
nonsense |
probably null |
|
|
R2078:Narf
|
UTSW |
11 |
121,136,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3711:Narf
|
UTSW |
11 |
121,137,764 (GRCm39) |
nonsense |
probably null |
|
|
R3967:Narf
|
UTSW |
11 |
121,129,247 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3968:Narf
|
UTSW |
11 |
121,129,247 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3970:Narf
|
UTSW |
11 |
121,129,247 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4128:Narf
|
UTSW |
11 |
121,141,261 (GRCm39) |
splice site |
probably null |
|
|
R4913:Narf
|
UTSW |
11 |
121,135,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Narf
|
UTSW |
11 |
121,135,765 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4946:Narf
|
UTSW |
11 |
121,141,179 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5799:Narf
|
UTSW |
11 |
121,135,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Narf
|
UTSW |
11 |
121,133,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6912:Narf
|
UTSW |
11 |
121,129,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7311:Narf
|
UTSW |
11 |
121,139,976 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8056:Narf
|
UTSW |
11 |
121,136,170 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8559:Narf
|
UTSW |
11 |
121,141,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9021:Narf
|
UTSW |
11 |
121,136,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0011:Narf
|
UTSW |
11 |
121,141,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTAAAGAAGCAATGCTACC -3'
(R):5'- TTGTCAAGAACCCTGTATGTATTTATC -3'
Sequencing Primer
(F):5'- AGCCGGGCAGTACCTTTAATC -3'
(R):5'- ATCCTGGGTTCTGTAAGAAAGC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation