Incidental Mutation 'R8140:Nek11'
| ID |
632487 |
| 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 |
067568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8140 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105270156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 22
(P22Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000176350]
[ENSMUST00000176940]
[ENSMUST00000177029]
[ENSMUST00000177402]
[ENSMUST00000189758]
|
| AlphaFold |
Q8C0Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035181
|
| SMART Domains |
Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XPG_I_2
|
115 |
307 |
1e-18 |
PFAM |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038648
AA Change: P22Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: P22Q
| 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: ENSMUST00000123807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123807
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140851
AA Change: P22Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
AA Change: P22Q
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156256
AA Change: P22Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
AA Change: P22Q
| 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: ENSMUST00000176350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176940
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177029
AA Change: P22Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032
AA Change: P22Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1h8fa_
|
11 |
80 |
1e-6 |
SMART |
|
Blast:S_TKc
|
30 |
70 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177402
|
| SMART Domains |
Protein: ENSMUSP00000135318
Gene: ENSMUSG00000032567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189758
|
| SMART Domains |
Protein: ENSMUSP00000139854
Gene: ENSMUSG00000032567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2983 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 93.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,954 (GRCm39) |
V230E |
possibly damaging |
Het |
| Amotl1 |
G |
A |
9: 14,484,011 (GRCm39) |
|
probably null |
Het |
| Atp7b |
C |
A |
8: 22,518,576 (GRCm39) |
E87D |
probably damaging |
Het |
| Bcat2 |
C |
T |
7: 45,237,775 (GRCm39) |
P347L |
probably damaging |
Het |
| Brox |
A |
T |
1: 183,075,437 (GRCm39) |
|
probably null |
Het |
| Cd37 |
A |
G |
7: 44,887,959 (GRCm39) |
I58T |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,252,829 (GRCm39) |
M333K |
probably benign |
Het |
| Chtop |
A |
G |
3: 90,412,700 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
A |
T |
6: 30,544,904 (GRCm39) |
K54N |
probably benign |
Het |
| Cpa6 |
A |
G |
1: 10,395,519 (GRCm39) |
S383P |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,540,748 (GRCm39) |
I2542N |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,090,357 (GRCm39) |
V1179I |
probably benign |
Het |
| Erbin |
T |
C |
13: 104,056,802 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
T |
2: 130,457,170 (GRCm39) |
D473E |
possibly damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,097,395 (GRCm39) |
E372G |
probably damaging |
Het |
| Fgl1 |
T |
C |
8: 41,653,646 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
G |
18: 9,213,797 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,925 (GRCm39) |
H411L |
probably benign |
Het |
| Gm49380 |
G |
T |
9: 44,023,269 (GRCm39) |
D326E |
probably benign |
Het |
| Hcrtr1 |
G |
A |
4: 130,029,083 (GRCm39) |
R240C |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,088,181 (GRCm39) |
Y948N |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,295,167 (GRCm39) |
S301G |
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,520,574 (GRCm39) |
D362E |
possibly damaging |
Het |
| Ighv1-9 |
G |
A |
12: 114,547,361 (GRCm39) |
P60L |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,867,390 (GRCm39) |
I751T |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,941,402 (GRCm39) |
Y851C |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,531,499 (GRCm39) |
S470P |
probably benign |
Het |
| Mfsd2a |
C |
T |
4: 122,843,091 (GRCm39) |
V397I |
probably benign |
Het |
| Mroh1 |
C |
A |
15: 76,318,073 (GRCm39) |
H867N |
probably benign |
Het |
| Mthfd1l |
C |
T |
10: 3,957,745 (GRCm39) |
R261* |
probably null |
Het |
| Myo3a |
A |
G |
2: 22,412,157 (GRCm39) |
I725M |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,457 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or5k15 |
T |
C |
16: 58,709,948 (GRCm39) |
T212A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,603 (GRCm39) |
V124E |
possibly damaging |
Het |
| Peg10 |
C |
G |
6: 4,756,113 (GRCm39) |
Q230E |
unknown |
Het |
| Pipox |
T |
C |
11: 77,774,735 (GRCm39) |
D116G |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,774,236 (GRCm39) |
R993H |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,702,611 (GRCm39) |
N1108K |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,637,202 (GRCm39) |
R291Q |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,134,309 (GRCm39) |
Y277N |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,126,805 (GRCm39) |
S78P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,433,252 (GRCm39) |
L171Q |
probably damaging |
Het |
| Sfta2 |
A |
G |
17: 35,912,666 (GRCm39) |
E14G |
unknown |
Het |
| Sh3rf3 |
T |
A |
10: 58,885,177 (GRCm39) |
S353R |
possibly damaging |
Het |
| Slc37a1 |
A |
T |
17: 31,541,233 (GRCm39) |
I242F |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,621,762 (GRCm39) |
D274E |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,959,127 (GRCm39) |
S685R |
possibly damaging |
Het |
| Tenm4 |
A |
C |
7: 96,544,383 (GRCm39) |
D2170A |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,691,265 (GRCm39) |
T472A |
probably damaging |
Het |
| Tspan9 |
T |
C |
6: 127,942,241 (GRCm39) |
H203R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,601,995 (GRCm39) |
T18556A |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,868,569 (GRCm39) |
Y323* |
probably null |
Het |
| Usp31 |
G |
T |
7: 121,248,249 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,058 (GRCm39) |
T611S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,864,317 (GRCm39) |
V552A |
|
Het |
| Zap70 |
G |
T |
1: 36,810,262 (GRCm39) |
R124L |
possibly damaging |
Het |
| Zfand6 |
A |
T |
7: 84,281,957 (GRCm39) |
S91T |
possibly 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 |
|
|
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 |
|
R8752:Nek11
|
UTSW |
9 |
105,225,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGGAGGTGGGGCATCTATACAG -3'
(R):5'- TCTGGCATCAATCAACACTTCC -3'
Sequencing Primer
(F):5'- CAGAGTACAGATCAGATGTGACTCC -3'
(R):5'- AATCAACACTTCCCGTTTGAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation