Incidental Mutation 'R0748:Nufip1'
| ID |
70234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nufip1
|
| Ensembl Gene |
ENSMUSG00000022009 |
| Gene Name |
nuclear FMR1 interacting protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0748 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
76348331-76374819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76348508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 46
(S46P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022585]
[ENSMUST00000022586]
|
| AlphaFold |
Q9QXX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022585
|
| SMART Domains |
Protein: ENSMUSP00000022585
Gene: ENSMUSG00000022008
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
117 |
N/A |
INTRINSIC |
|
Pfam:DUF3752
|
202 |
338 |
8.9e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022586
AA Change: S46P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
187 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
188 |
212 |
5.4e1 |
SMART |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,874 (GRCm39) |
V718A |
probably damaging |
Het |
| Amigo1 |
A |
G |
3: 108,095,946 (GRCm39) |
S482G |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,379 (GRCm39) |
Q202R |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,262,997 (GRCm39) |
V787A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,977 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,343 (GRCm39) |
E920G |
probably damaging |
Het |
| Gm9881 |
T |
C |
16: 90,967,313 (GRCm39) |
N137S |
unknown |
Het |
| Hps4 |
A |
G |
5: 112,522,780 (GRCm39) |
E546G |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,038,528 (GRCm39) |
I26T |
probably benign |
Het |
| Insr |
A |
C |
8: 3,308,841 (GRCm39) |
M65R |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,241 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,083 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
C |
2: 162,813,084 (GRCm39) |
|
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,558,359 (GRCm39) |
I175M |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,608,331 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
A |
8: 95,034,571 (GRCm39) |
Y629N |
probably damaging |
Het |
| Or10a49 |
C |
A |
7: 108,468,357 (GRCm39) |
M1I |
probably null |
Het |
| Pcsk6 |
T |
C |
7: 65,688,716 (GRCm39) |
|
probably benign |
Het |
| Rdx |
G |
C |
9: 51,976,160 (GRCm39) |
V33L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,364,306 (GRCm39) |
L4535P |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,164 (GRCm39) |
T66S |
probably damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,198 (GRCm39) |
D66G |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,446,714 (GRCm39) |
I2920T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,580 (GRCm39) |
N351S |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,241,164 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,216,988 (GRCm39) |
S489P |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,424 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nufip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03035:Nufip1
|
APN |
14 |
76,353,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Nufip1
|
UTSW |
14 |
76,372,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1641:Nufip1
|
UTSW |
14 |
76,363,692 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1992:Nufip1
|
UTSW |
14 |
76,372,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Nufip1
|
UTSW |
14 |
76,348,413 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5191:Nufip1
|
UTSW |
14 |
76,349,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Nufip1
|
UTSW |
14 |
76,370,538 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5282:Nufip1
|
UTSW |
14 |
76,351,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5635:Nufip1
|
UTSW |
14 |
76,363,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Nufip1
|
UTSW |
14 |
76,372,340 (GRCm39) |
makesense |
probably null |
|
|
R5990:Nufip1
|
UTSW |
14 |
76,351,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6328:Nufip1
|
UTSW |
14 |
76,348,494 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6333:Nufip1
|
UTSW |
14 |
76,349,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6697:Nufip1
|
UTSW |
14 |
76,370,513 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7129:Nufip1
|
UTSW |
14 |
76,372,325 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7585:Nufip1
|
UTSW |
14 |
76,348,427 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7670:Nufip1
|
UTSW |
14 |
76,349,414 (GRCm39) |
frame shift |
probably null |
|
|
R7848:Nufip1
|
UTSW |
14 |
76,351,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Nufip1
|
UTSW |
14 |
76,352,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7982:Nufip1
|
UTSW |
14 |
76,363,679 (GRCm39) |
missense |
probably benign |
|
|
R8202:Nufip1
|
UTSW |
14 |
76,348,604 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9141:Nufip1
|
UTSW |
14 |
76,370,413 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9558:Nufip1
|
UTSW |
14 |
76,348,481 (GRCm39) |
missense |
probably benign |
0.34 |
|
X0067:Nufip1
|
UTSW |
14 |
76,368,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCTGATGACGTAAGCCCGC -3'
(R):5'- TGGCCGCTGAACTGAGATTGAG -3'
Sequencing Primer
(F):5'- GTGACGCTTAATGATAGTTCCACAG -3'
(R):5'- CTGAACTGAGATTGAGCATCG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation