Incidental Mutation 'R4636:Nifk'
| ID |
350720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nifk
|
| Ensembl Gene |
ENSMUSG00000026377 |
| Gene Name |
nucleolar protein interacting with the FHA domain of MKI67 |
| Synonyms |
Mki67ip, C130020J04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R4636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
118249569-118261552 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118257217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 117
(Y117N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027626]
[ENSMUST00000112688]
[ENSMUST00000161495]
|
| AlphaFold |
Q91VE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027626
AA Change: Y165N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027626
Gene: ENSMUSG00000026377
AA Change: Y165N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
RRM
|
48 |
121 |
1.88e-19 |
SMART |
|
low complexity region
|
168 |
181 |
N/A |
INTRINSIC |
|
Pfam:hNIFK_binding
|
250 |
288 |
4.8e-26 |
PFAM |
|
low complexity region
|
304 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112688
AA Change: Y117N
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108308
Gene: ENSMUSG00000026377
AA Change: Y117N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_1
|
20 |
71 |
2e-8 |
PFAM |
|
low complexity region
|
120 |
133 |
N/A |
INTRINSIC |
|
Pfam:hNIFK_binding
|
202 |
241 |
9.6e-29 |
PFAM |
|
low complexity region
|
256 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161495
|
| SMART Domains |
Protein: ENSMUSP00000125006
Gene: ENSMUSG00000026377
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
21 |
94 |
1.88e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcs |
T |
C |
1: 172,721,989 (GRCm39) |
E119G |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,251,876 (GRCm39) |
T876A |
probably benign |
Het |
| Arih2 |
A |
T |
9: 108,491,013 (GRCm39) |
C227S |
probably damaging |
Het |
| Bsn |
A |
T |
9: 107,992,623 (GRCm39) |
L1043Q |
probably damaging |
Het |
| Cyp2d34 |
G |
C |
15: 82,504,929 (GRCm39) |
P44A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,360,301 (GRCm39) |
N438K |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,170,098 (GRCm39) |
M447T |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,297,914 (GRCm39) |
S92P |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,509,836 (GRCm39) |
Y166N |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Mrpl1 |
G |
T |
5: 96,358,034 (GRCm39) |
V5L |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,053,420 (GRCm39) |
K2028E |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,482 (GRCm39) |
F558S |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,660 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
C |
T |
9: 96,426,390 (GRCm39) |
D819N |
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,009,340 (GRCm39) |
T732S |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,239,007 (GRCm39) |
V204A |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,643,937 (GRCm39) |
L13097R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,568 (GRCm39) |
E280G |
probably benign |
Het |
| Znhit6 |
G |
T |
3: 145,306,334 (GRCm39) |
V280L |
probably null |
Het |
| Znhit6 |
A |
G |
3: 145,306,333 (GRCm39) |
|
silent |
Het |
|
| Other mutations in Nifk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02718:Nifk
|
APN |
1 |
118,255,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Nifk
|
UTSW |
1 |
118,257,130 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3982:Nifk
|
UTSW |
1 |
118,257,282 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5061:Nifk
|
UTSW |
1 |
118,260,669 (GRCm39) |
makesense |
probably null |
|
|
R6913:Nifk
|
UTSW |
1 |
118,260,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6931:Nifk
|
UTSW |
1 |
118,260,078 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7471:Nifk
|
UTSW |
1 |
118,260,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Nifk
|
UTSW |
1 |
118,255,391 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8272:Nifk
|
UTSW |
1 |
118,260,134 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9566:Nifk
|
UTSW |
1 |
118,260,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nifk
|
UTSW |
1 |
118,249,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTTCATACCACAAGAAATGGC -3'
(R):5'- AACCCAACCTAGCGTGTGAG -3'
Sequencing Primer
(F):5'- CCACAAGAAATGGCTTTTTGGG -3'
(R):5'- AGGAGCACTGAGGTAGATTCTGTATC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation