Incidental Mutation 'R1326:Narf'
| ID |
157225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Narf
|
| Ensembl Gene |
ENSMUSG00000000056 |
| Gene Name |
nuclear prelamin A recognition factor |
| Synonyms |
4430402O11Rik |
| MMRRC Submission |
039392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R1326 (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 121133379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 60
(L60Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103015]
|
| AlphaFold |
Q9CYQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103015
AA Change: L60Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056
AA Change: L60Q
| 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: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
| Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,357 (GRCm39) |
I130T |
possibly damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
| Errfi1 |
T |
C |
4: 150,949,621 (GRCm39) |
V6A |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,582,592 (GRCm39) |
|
probably null |
Het |
| Fsbp |
A |
G |
4: 11,579,891 (GRCm39) |
Y53C |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
| Ifna7 |
A |
T |
4: 88,734,931 (GRCm39) |
E156V |
possibly damaging |
Het |
| Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,543 (GRCm39) |
F289S |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,857,288 (GRCm39) |
T491A |
probably benign |
Het |
| Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
| Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
probably 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 |
|
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 |
|
R5404:Narf
|
UTSW |
11 |
121,133,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCCTAAAGAAGCAATGCTACCagcc -3'
(R):5'- TCACAAAACATCAGTAAACCCTATCACATCAA -3'
Sequencing Primer
(F):5'- agtacctttaatcccagcactc -3'
(R):5'- ccacccacccacccatc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation