Incidental Mutation 'R4594:Nek11'
| ID |
344265 |
| 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 |
041810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105162156-105395524 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 105392847 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[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 null
Transcript: ENSMUST00000038648
|
| SMART Domains |
Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
| 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 null
Transcript: ENSMUST00000140851
|
| SMART Domains |
Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140851
|
| SMART Domains |
Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156256
|
| SMART Domains |
Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
| 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 |
noncoding transcript
Transcript: ENSMUST00000176597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176940
|
| 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 |
|
| 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 |
0.9490 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,575,754 (GRCm38) |
T64A |
probably damaging |
Het |
| 4933427I04Rik |
A |
T |
4: 123,860,538 (GRCm38) |
T82S |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,921,447 (GRCm38) |
I264N |
probably damaging |
Het |
| Alpk1 |
G |
A |
3: 127,683,554 (GRCm38) |
A285V |
probably damaging |
Het |
| Auh |
T |
C |
13: 52,912,966 (GRCm38) |
|
probably benign |
Het |
| BC030499 |
T |
A |
11: 78,291,647 (GRCm38) |
V94D |
possibly damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,982,346 (GRCm38) |
F826S |
probably benign |
Het |
| Ccdc54 |
G |
T |
16: 50,590,017 (GRCm38) |
Y295* |
probably null |
Het |
| Ctnna3 |
G |
A |
10: 64,586,079 (GRCm38) |
V551I |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 86,986,037 (GRCm38) |
C347Y |
probably damaging |
Het |
| Dnajb5 |
A |
G |
4: 42,950,842 (GRCm38) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,717,996 (GRCm38) |
I847K |
possibly damaging |
Het |
| Fam8a1 |
T |
C |
13: 46,671,266 (GRCm38) |
F243S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,284,752 (GRCm38) |
I1712V |
possibly damaging |
Het |
| Fgfr1 |
T |
C |
8: 25,573,836 (GRCm38) |
V793A |
probably damaging |
Het |
| Got2 |
T |
C |
8: 95,872,186 (GRCm38) |
E196G |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,170,701 (GRCm38) |
C107Y |
possibly damaging |
Het |
| H2-M5 |
T |
C |
17: 36,987,805 (GRCm38) |
T250A |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,777,802 (GRCm38) |
T151S |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 133,108,868 (GRCm38) |
N279D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
| Kynu |
T |
A |
2: 43,679,890 (GRCm38) |
S395T |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,706,321 (GRCm38) |
T226I |
probably benign |
Het |
| Mael |
T |
A |
1: 166,235,487 (GRCm38) |
Q132L |
probably damaging |
Het |
| Mcpt1 |
A |
T |
14: 56,018,652 (GRCm38) |
R49S |
probably benign |
Het |
| Meioc |
G |
T |
11: 102,674,166 (GRCm38) |
G203C |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,007,317 (GRCm38) |
S46P |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,638,772 (GRCm38) |
T1996N |
possibly damaging |
Het |
| Mx2 |
C |
A |
16: 97,547,432 (GRCm38) |
Y268* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,100,074 (GRCm38) |
D1064G |
possibly damaging |
Het |
| Nfe2 |
A |
G |
15: 103,248,805 (GRCm38) |
L253S |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,196,489 (GRCm38) |
I478T |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,319,482 (GRCm38) |
D529G |
probably damaging |
Het |
| Oard1 |
T |
C |
17: 48,415,239 (GRCm38) |
S88P |
possibly damaging |
Het |
| Olfr1370 |
C |
T |
13: 21,072,522 (GRCm38) |
V260I |
probably benign |
Het |
| Olfr231 |
G |
T |
1: 174,117,320 (GRCm38) |
T232N |
probably damaging |
Het |
| Olfr639 |
T |
C |
7: 104,012,417 (GRCm38) |
D95G |
probably benign |
Het |
| Olfr678 |
T |
C |
7: 105,069,590 (GRCm38) |
V41A |
probably benign |
Het |
| Olfr732 |
G |
A |
14: 50,281,683 (GRCm38) |
T190I |
probably benign |
Het |
| Olfr741 |
A |
G |
14: 50,486,162 (GRCm38) |
R235G |
probably benign |
Het |
| Olfr906 |
A |
C |
9: 38,488,761 (GRCm38) |
H244P |
probably damaging |
Het |
| Osgin1 |
C |
T |
8: 119,445,253 (GRCm38) |
T262I |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 136,002,599 (GRCm38) |
M146L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,767,966 (GRCm38) |
E2456V |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,206,196 (GRCm38) |
A1004V |
probably damaging |
Het |
| Rab15 |
G |
A |
12: 76,800,671 (GRCm38) |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,457,880 (GRCm38) |
V601A |
probably benign |
Het |
| Rasef |
T |
A |
4: 73,780,389 (GRCm38) |
I12F |
possibly damaging |
Het |
| Rdh14 |
T |
A |
12: 10,394,567 (GRCm38) |
N139K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,480,417 (GRCm38) |
V46E |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,465,617 (GRCm38) |
L68H |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,796,380 (GRCm38) |
A238G |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,435,068 (GRCm38) |
I206T |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,836,948 (GRCm38) |
V995E |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,086,435 (GRCm38) |
I637S |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,073,969 (GRCm38) |
F773L |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,393,662 (GRCm38) |
D548V |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,445,794 (GRCm38) |
N1590D |
probably benign |
Het |
| Zbtb6 |
A |
T |
2: 37,429,042 (GRCm38) |
N291K |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 55,866,325 (GRCm38) |
R173C |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,464,182 (GRCm38) |
L335P |
probably damaging |
Het |
|
| Other mutations in Nek11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Nek11
|
APN |
9 |
105,392,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01369:Nek11
|
APN |
9 |
105,300,060 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01958:Nek11
|
APN |
9 |
105,300,303 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03099:Nek11
|
APN |
9 |
105,287,653 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03256:Nek11
|
APN |
9 |
105,244,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03400:Nek11
|
APN |
9 |
105,204,866 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0051:Nek11
|
UTSW |
9 |
105,218,539 (GRCm38) |
splice site |
probably benign |
|
|
R0051:Nek11
|
UTSW |
9 |
105,218,539 (GRCm38) |
splice site |
probably benign |
|
|
R0194:Nek11
|
UTSW |
9 |
105,392,952 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0942:Nek11
|
UTSW |
9 |
105,295,371 (GRCm38) |
splice site |
probably null |
|
|
R1226:Nek11
|
UTSW |
9 |
105,392,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1503:Nek11
|
UTSW |
9 |
105,163,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1709:Nek11
|
UTSW |
9 |
105,348,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1958:Nek11
|
UTSW |
9 |
105,293,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2128:Nek11
|
UTSW |
9 |
105,300,361 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3754:Nek11
|
UTSW |
9 |
105,314,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4027:Nek11
|
UTSW |
9 |
105,244,390 (GRCm38) |
nonsense |
probably null |
|
|
R4650:Nek11
|
UTSW |
9 |
105,348,080 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4724:Nek11
|
UTSW |
9 |
105,392,970 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4846:Nek11
|
UTSW |
9 |
105,163,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4903:Nek11
|
UTSW |
9 |
105,314,722 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R4908:Nek11
|
UTSW |
9 |
105,298,289 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4912:Nek11
|
UTSW |
9 |
105,287,658 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4930:Nek11
|
UTSW |
9 |
105,300,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5827:Nek11
|
UTSW |
9 |
105,314,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5860:Nek11
|
UTSW |
9 |
105,392,961 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6030:Nek11
|
UTSW |
9 |
105,204,888 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6030:Nek11
|
UTSW |
9 |
105,204,888 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6154:Nek11
|
UTSW |
9 |
105,323,169 (GRCm38) |
makesense |
probably null |
|
|
R6915:Nek11
|
UTSW |
9 |
105,393,057 (GRCm38) |
unclassified |
probably benign |
|
|
R7197:Nek11
|
UTSW |
9 |
105,244,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8059:Nek11
|
UTSW |
9 |
105,162,974 (GRCm38) |
makesense |
probably null |
|
|
R8140:Nek11
|
UTSW |
9 |
105,392,957 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8357:Nek11
|
UTSW |
9 |
105,347,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8457:Nek11
|
UTSW |
9 |
105,347,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8536:Nek11
|
UTSW |
9 |
105,298,339 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8752:Nek11
|
UTSW |
9 |
105,348,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8885:Nek11
|
UTSW |
9 |
105,295,372 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9098:Nek11
|
UTSW |
9 |
105,293,657 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9616:Nek11
|
UTSW |
9 |
105,204,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Nek11
|
UTSW |
9 |
105,293,669 (GRCm38) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAAAGCAAAGCCCTGTGAC -3'
(R):5'- GCCCAACTGTTGTTTCTGTG -3'
Sequencing Primer
(F):5'- GCCCTGTGACTTCAAGTAAAATGG -3'
(R):5'- GTTTGGAGCAATGCTGAAATTCC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation