Incidental Mutation 'R8752:Nek11'
| ID |
663921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek11
|
| Ensembl Gene |
ENSMUSG00000035032 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 11 |
| Synonyms |
4932416N14Rik |
| MMRRC Submission |
068595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8752 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105225207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 102
(Q102K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038648]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000177029]
|
| AlphaFold |
Q8C0Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038648
AA Change: Q102K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: Q102K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
coiled coil region
|
348 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140851
AA Change: Q102K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
AA Change: Q102K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156256
AA Change: Q102K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
AA Change: Q102K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
30 |
177 |
8.9e-36 |
PFAM |
|
Pfam:Pkinase_Tyr
|
30 |
178 |
8.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177029
|
| SMART Domains |
Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1h8fa_
|
11 |
80 |
1e-6 |
SMART |
|
Blast:S_TKc
|
30 |
70 |
1e-11 |
BLAST |
|
| Meta Mutation Damage Score |
0.0999 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,396 (GRCm39) |
K82R |
probably damaging |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,328 (GRCm39) |
C375* |
probably null |
Het |
| Adat2 |
A |
T |
10: 13,432,604 (GRCm39) |
E35D |
probably benign |
Het |
| Afm |
A |
C |
5: 90,700,424 (GRCm39) |
E600D |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,992,901 (GRCm39) |
D4728E |
probably damaging |
Het |
| Ak7 |
AAGGAG |
AAG |
12: 105,713,476 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
C |
A |
14: 31,477,699 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
A |
T |
13: 96,916,879 (GRCm39) |
H131L |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,196,617 (GRCm39) |
F183L |
probably damaging |
Het |
| Asah1 |
G |
A |
8: 41,813,314 (GRCm39) |
S33L |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,818 (GRCm39) |
Y293H |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,102,529 (GRCm39) |
F30S |
probably damaging |
Het |
| Ces1c |
C |
G |
8: 93,846,964 (GRCm39) |
A243P |
probably damaging |
Het |
| Deptor |
A |
T |
15: 55,044,280 (GRCm39) |
T149S |
probably benign |
Het |
| Dnah14 |
G |
A |
1: 181,455,581 (GRCm39) |
R902H |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,290,365 (GRCm39) |
I1252V |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,711,701 (GRCm39) |
I2643V |
probably benign |
Het |
| Dnajc4 |
C |
T |
19: 6,966,801 (GRCm39) |
V177I |
probably benign |
Het |
| Efhc1 |
A |
T |
1: 21,059,692 (GRCm39) |
N581Y |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,214,759 (GRCm39) |
T767A |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,391 (GRCm39) |
E382G |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,878,094 (GRCm39) |
D35E |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,513 (GRCm39) |
V181A |
possibly damaging |
Het |
| Gm5114 |
A |
T |
7: 39,057,927 (GRCm39) |
M564K |
probably damaging |
Het |
| Gpr45 |
A |
T |
1: 43,071,842 (GRCm39) |
I162F |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,060,206 (GRCm39) |
F47S |
probably benign |
Het |
| Hsf1 |
C |
A |
15: 76,384,344 (GRCm39) |
S417* |
probably null |
Het |
| Id4 |
A |
T |
13: 48,415,065 (GRCm39) |
H31L |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,328,265 (GRCm39) |
S322G |
probably damaging |
Het |
| Lcn11 |
T |
C |
2: 25,668,138 (GRCm39) |
Y99H |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,367 (GRCm39) |
R142Q |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,976,129 (GRCm39) |
S10P |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,758 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,596,165 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,342,684 (GRCm39) |
R709Q |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,113 (GRCm39) |
N1416D |
probably benign |
Het |
| Or13p3 |
A |
C |
4: 118,567,083 (GRCm39) |
T160P |
probably damaging |
Het |
| Or2v1 |
T |
A |
11: 49,025,505 (GRCm39) |
V162E |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or5p72 |
T |
C |
7: 108,022,480 (GRCm39) |
I234T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,591 (GRCm39) |
I16T |
possibly damaging |
Het |
| Parp4 |
G |
T |
14: 56,886,073 (GRCm39) |
E1717D |
unknown |
Het |
| Pla2g4d |
A |
T |
2: 120,099,248 (GRCm39) |
|
probably null |
Het |
| Pramel52-ps |
A |
T |
5: 94,529,354 (GRCm39) |
R41S |
possibly damaging |
Het |
| Psmc2 |
A |
G |
5: 22,001,533 (GRCm39) |
I107V |
probably benign |
Het |
| Rhod |
G |
T |
19: 4,476,121 (GRCm39) |
T210N |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,048,992 (GRCm39) |
D2006V |
probably damaging |
Het |
| Sfpq |
T |
A |
4: 126,919,969 (GRCm39) |
M541K |
possibly damaging |
Het |
| Sorbs1 |
C |
T |
19: 40,349,872 (GRCm39) |
|
probably null |
Het |
| Sv2b |
C |
A |
7: 74,855,842 (GRCm39) |
M149I |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,060,366 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
G |
T |
13: 23,283,880 (GRCm39) |
V188F |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,018 (GRCm39) |
F313S |
probably benign |
Het |
| Vmn2r44 |
A |
G |
7: 8,370,805 (GRCm39) |
F747S |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,661,738 (GRCm39) |
S495P |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,547,838 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
A |
C |
4: 128,479,480 (GRCm39) |
C1004G |
probably damaging |
Het |
|
| Other mutations in Nek11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Nek11
|
APN |
9 |
105,270,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01369:Nek11
|
APN |
9 |
105,177,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01958:Nek11
|
APN |
9 |
105,177,502 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03099:Nek11
|
APN |
9 |
105,164,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03256:Nek11
|
APN |
9 |
105,121,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03400:Nek11
|
APN |
9 |
105,082,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0051:Nek11
|
UTSW |
9 |
105,095,738 (GRCm39) |
splice site |
probably benign |
|
|
R0051:Nek11
|
UTSW |
9 |
105,095,738 (GRCm39) |
splice site |
probably benign |
|
|
R0194:Nek11
|
UTSW |
9 |
105,270,151 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0942:Nek11
|
UTSW |
9 |
105,172,570 (GRCm39) |
splice site |
probably null |
|
|
R1226:Nek11
|
UTSW |
9 |
105,270,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Nek11
|
UTSW |
9 |
105,040,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Nek11
|
UTSW |
9 |
105,225,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Nek11
|
UTSW |
9 |
105,170,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2128:Nek11
|
UTSW |
9 |
105,177,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3754:Nek11
|
UTSW |
9 |
105,191,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Nek11
|
UTSW |
9 |
105,121,589 (GRCm39) |
nonsense |
probably null |
|
|
R4594:Nek11
|
UTSW |
9 |
105,270,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4650:Nek11
|
UTSW |
9 |
105,225,279 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4724:Nek11
|
UTSW |
9 |
105,270,169 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4846:Nek11
|
UTSW |
9 |
105,040,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Nek11
|
UTSW |
9 |
105,191,921 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4908:Nek11
|
UTSW |
9 |
105,175,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4912:Nek11
|
UTSW |
9 |
105,164,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4930:Nek11
|
UTSW |
9 |
105,177,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5827:Nek11
|
UTSW |
9 |
105,191,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Nek11
|
UTSW |
9 |
105,270,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6030:Nek11
|
UTSW |
9 |
105,082,087 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6030:Nek11
|
UTSW |
9 |
105,082,087 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6154:Nek11
|
UTSW |
9 |
105,200,368 (GRCm39) |
makesense |
probably null |
|
|
R6915:Nek11
|
UTSW |
9 |
105,270,256 (GRCm39) |
unclassified |
probably benign |
|
|
R7197:Nek11
|
UTSW |
9 |
105,121,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8059:Nek11
|
UTSW |
9 |
105,040,173 (GRCm39) |
makesense |
probably null |
|
|
R8140:Nek11
|
UTSW |
9 |
105,270,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8357:Nek11
|
UTSW |
9 |
105,225,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Nek11
|
UTSW |
9 |
105,225,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8536:Nek11
|
UTSW |
9 |
105,175,538 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8885:Nek11
|
UTSW |
9 |
105,172,571 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9098:Nek11
|
UTSW |
9 |
105,170,856 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9616:Nek11
|
UTSW |
9 |
105,082,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nek11
|
UTSW |
9 |
105,170,868 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGACTGATTTGCCAAAGG -3'
(R):5'- TGTACCACGTCCTTACAACAGAG -3'
Sequencing Primer
(F):5'- GGTCAGTTACTTAGAGAAGACTACTC -3'
(R):5'- AACAGACTTCTCAACTCTTGATGTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation