Incidental Mutation 'R3982:Nifk'
| ID |
345291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nifk
|
| Ensembl Gene |
ENSMUSG00000026377 |
| Gene Name |
nucleolar protein interacting with the FHA domain of MKI67 |
| Synonyms |
Mki67ip, C130020J04Rik |
| MMRRC Submission |
041608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R3982 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
118249569-118261552 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118257282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 138
(S138R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027626]
[ENSMUST00000112688]
[ENSMUST00000161495]
|
| AlphaFold |
Q91VE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027626
AA Change: S186R
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000027626
Gene: ENSMUSG00000026377
AA Change: S186R
| 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: S138R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108308
Gene: ENSMUSG00000026377
AA Change: S138R
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
T |
C |
10: 14,324,589 (GRCm39) |
N445S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,842,373 (GRCm39) |
T902A |
possibly damaging |
Het |
| Atf4 |
T |
C |
15: 80,141,069 (GRCm39) |
V153A |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,365 (GRCm39) |
T3230A |
unknown |
Het |
| Cadps2 |
A |
G |
6: 23,263,530 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Cth |
A |
T |
3: 157,619,334 (GRCm39) |
L163* |
probably null |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,934,608 (GRCm39) |
L269P |
probably damaging |
Het |
| Gpr62 |
G |
A |
9: 106,342,085 (GRCm39) |
A281V |
probably benign |
Het |
| Hapln1 |
T |
A |
13: 89,753,560 (GRCm39) |
F242Y |
probably benign |
Het |
| Ighv1-39 |
A |
T |
12: 114,878,251 (GRCm39) |
S107T |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,305,774 (GRCm39) |
V72A |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,560,101 (GRCm39) |
C124* |
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,593,487 (GRCm39) |
M482K |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,971,164 (GRCm39) |
N734S |
probably benign |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mdga1 |
C |
A |
17: 30,150,238 (GRCm39) |
A125S |
unknown |
Het |
| Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,358 (GRCm39) |
V187A |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pigo |
A |
T |
4: 43,023,482 (GRCm39) |
S231T |
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,928,654 (GRCm39) |
T867M |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,055 (GRCm39) |
S379T |
probably damaging |
Het |
| Polg2 |
G |
A |
11: 106,670,028 (GRCm39) |
R81* |
probably null |
Het |
| Prpf4b |
C |
T |
13: 35,068,196 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,379,257 (GRCm39) |
I1981F |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,245,080 (GRCm39) |
E1307K |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,948 (GRCm39) |
M807K |
probably damaging |
Het |
| Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
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 |
|
R4636:Nifk
|
UTSW |
1 |
118,257,217 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- AAGACCTTTTCAGCCAGAGG -3'
(R):5'- ATGACGTATGCTCAGTGCC -3'
Sequencing Primer
(F):5'- TTTCAGCCAGAGGAATGCTC -3'
(R):5'- AGACCCCTTGCCTAGCATG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation