Incidental Mutation 'R6697:Nufip1'
| ID |
528629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nufip1
|
| Ensembl Gene |
ENSMUSG00000022009 |
| Gene Name |
nuclear FMR1 interacting protein 1 |
| Synonyms |
|
| MMRRC Submission |
044815-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6697 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
76348331-76374819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76370513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 405
(T405A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022586]
|
| AlphaFold |
Q9QXX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022586
AA Change: T405A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: T405A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,281,870 (GRCm39) |
S562* |
probably null |
Het |
| Arhgap9 |
T |
C |
10: 127,157,989 (GRCm39) |
F2S |
probably benign |
Het |
| C2cd6 |
ATGTGGCCTGTCTTCT |
A |
1: 59,090,247 (GRCm39) |
|
probably benign |
Het |
| Clk1 |
A |
G |
1: 58,453,781 (GRCm39) |
S298P |
probably benign |
Het |
| Col7a1 |
T |
A |
9: 108,799,601 (GRCm39) |
L1834Q |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,671,949 (GRCm39) |
L1007P |
probably damaging |
Het |
| Erich3 |
G |
T |
3: 154,469,907 (GRCm39) |
|
probably benign |
Het |
| Fam209 |
A |
G |
2: 172,316,123 (GRCm39) |
E166G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,376,599 (GRCm39) |
T12A |
probably benign |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,487,704 (GRCm39) |
D398G |
possibly damaging |
Het |
| Hmx2 |
T |
C |
7: 131,157,663 (GRCm39) |
L259P |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,410,991 (GRCm39) |
R586S |
possibly damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,890 (GRCm39) |
E634G |
probably benign |
Het |
| Mettl21e |
G |
T |
1: 44,249,327 (GRCm39) |
L110I |
probably damaging |
Het |
| Mgst1 |
A |
G |
6: 138,124,751 (GRCm39) |
I22V |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,587 (GRCm39) |
T4569A |
probably benign |
Het |
| Neu4 |
A |
G |
1: 93,952,752 (GRCm39) |
K374E |
probably benign |
Het |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Tial1 |
G |
T |
7: 128,046,593 (GRCm39) |
Q68K |
possibly damaging |
Het |
| Znrd2 |
A |
G |
19: 5,780,458 (GRCm39) |
L180P |
probably damaging |
Het |
| Zp1 |
T |
A |
19: 10,892,199 (GRCm39) |
I62L |
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 |
|
R0748:Nufip1
|
UTSW |
14 |
76,348,508 (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 |
|
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'- TTGGGCCATTCAGAGATGGC -3'
(R):5'- GTGACCCCACTTTTAGGACAC -3'
Sequencing Primer
(F):5'- GCCATTCAGAGATGGCTGTCTATTC -3'
(R):5'- CCCACTTTTAGGACACAACATG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation