Incidental Mutation 'R7198:Nek10'
| ID |
560101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek10
|
| Ensembl Gene |
ENSMUSG00000042567 |
| Gene Name |
NIMA (never in mitosis gene a)- related kinase 10 |
| Synonyms |
LOC238944 |
| MMRRC Submission |
045337-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7457704-7666183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14850947 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 331
(W331R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112630]
[ENSMUST00000112631]
[ENSMUST00000224491]
|
| AlphaFold |
Q3UGM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112630
AA Change: W331R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: W331R
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
197 |
238 |
8.23e1 |
SMART |
|
ARM
|
278 |
320 |
5.18e0 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
ARM
|
401 |
448 |
7.09e1 |
SMART |
|
S_TKc
|
519 |
791 |
2.36e-75 |
SMART |
|
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112631
AA Change: W331R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: W331R
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
197 |
238 |
8.23e1 |
SMART |
|
ARM
|
278 |
320 |
5.18e0 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
ARM
|
401 |
448 |
7.09e1 |
SMART |
|
S_TKc
|
519 |
791 |
2.36e-75 |
SMART |
|
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224491
AA Change: W331R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,969,481 (GRCm39) |
S365N |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,792,550 (GRCm39) |
L526P |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,945,043 (GRCm39) |
L376Q |
probably damaging |
Het |
| Bcl9 |
T |
A |
3: 97,112,511 (GRCm39) |
M1315L |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,183 (GRCm39) |
Q837R |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,889,029 (GRCm39) |
V490A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,148,378 (GRCm39) |
Y2663C |
possibly damaging |
Het |
| Chit1 |
A |
G |
1: 134,078,229 (GRCm39) |
K346E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,683,517 (GRCm39) |
Y781C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,557,314 (GRCm39) |
L1938R |
possibly damaging |
Het |
| Cpxm2 |
T |
A |
7: 131,681,813 (GRCm39) |
N239Y |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,519,330 (GRCm39) |
Y54H |
probably benign |
Het |
| Dclk1 |
A |
C |
3: 55,385,296 (GRCm39) |
D369A |
possibly damaging |
Het |
| Dnai4 |
A |
G |
4: 102,919,610 (GRCm39) |
V498A |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,449,190 (GRCm39) |
N71S |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,642,711 (GRCm39) |
N1111K |
probably benign |
Het |
| Fer |
T |
A |
17: 64,228,683 (GRCm39) |
V186E |
possibly damaging |
Het |
| Gm11042 |
T |
A |
12: 74,361,888 (GRCm39) |
H39L |
unknown |
Het |
| Gm14325 |
A |
G |
2: 177,473,798 (GRCm39) |
I428T |
probably benign |
Het |
| Gm47995 |
A |
G |
1: 151,074,404 (GRCm39) |
E69G |
possibly damaging |
Het |
| Gm6176 |
T |
A |
7: 21,750,596 (GRCm39) |
I112F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,710 (GRCm39) |
D769E |
probably benign |
Het |
| Hsdl1 |
C |
T |
8: 120,294,607 (GRCm39) |
V40I |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,183,882 (GRCm39) |
H34R |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,366,856 (GRCm39) |
L242P |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,316 (GRCm39) |
M181V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,582 (GRCm39) |
I716N |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,784,772 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,533,962 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,634,384 (GRCm39) |
S69T |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,702,617 (GRCm39) |
R115G |
possibly damaging |
Het |
| Msgn1 |
G |
T |
12: 11,258,902 (GRCm39) |
D16E |
probably benign |
Het |
| Mthfd2l |
T |
A |
5: 91,094,705 (GRCm39) |
I58K |
probably damaging |
Het |
| Mup18 |
G |
C |
4: 61,591,573 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,881,974 (GRCm39) |
Y148C |
probably damaging |
Het |
| Or4a47 |
T |
C |
2: 89,666,076 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,760 (GRCm39) |
C177S |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,980,459 (GRCm39) |
T325A |
possibly damaging |
Het |
| Pcdha4 |
T |
A |
18: 37,086,613 (GRCm39) |
N265K |
probably damaging |
Het |
| Pigq |
C |
T |
17: 26,153,199 (GRCm39) |
V331I |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,105,329 (GRCm39) |
E598G |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,303,748 (GRCm39) |
T120M |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,726 (GRCm39) |
T240S |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,723,649 (GRCm39) |
I15F |
probably damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,318 (GRCm39) |
D256E |
unknown |
Het |
| Scaf8 |
T |
A |
17: 3,213,373 (GRCm39) |
M154K |
unknown |
Het |
| Slc27a1 |
T |
C |
8: 72,032,071 (GRCm39) |
V64A |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,064 (GRCm39) |
R256* |
probably null |
Het |
| Snx31 |
A |
G |
15: 36,555,455 (GRCm39) |
F31L |
probably benign |
Het |
| Spag17 |
T |
C |
3: 100,002,888 (GRCm39) |
S1871P |
probably benign |
Het |
| Tdpoz4 |
T |
G |
3: 93,704,662 (GRCm39) |
S320A |
probably benign |
Het |
| Tmprss11c |
A |
T |
5: 86,379,691 (GRCm39) |
C406S |
probably damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,630 (GRCm39) |
A519V |
probably benign |
Het |
| Tssc4 |
T |
A |
7: 142,624,724 (GRCm39) |
|
probably null |
Het |
| Uba3 |
A |
T |
6: 97,182,512 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
GAACAAGTCCACAACAA |
GAACAA |
11: 84,913,681 (GRCm39) |
|
probably null |
Het |
| Wnt11 |
T |
C |
7: 98,496,588 (GRCm39) |
M176T |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,814,346 (GRCm39) |
G366D |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,255,807 (GRCm39) |
I793N |
probably damaging |
Het |
| Zfp677 |
T |
G |
17: 21,618,679 (GRCm39) |
C579G |
probably damaging |
Het |
| Zscan4-ps1 |
T |
A |
7: 10,799,626 (GRCm39) |
K421M |
probably damaging |
Het |
|
| Other mutations in Nek10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:Nek10
|
APN |
14 |
14,850,957 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02067:Nek10
|
APN |
14 |
14,861,639 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02361:Nek10
|
APN |
14 |
14,843,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02687:Nek10
|
APN |
14 |
14,840,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02929:Nek10
|
APN |
14 |
14,821,119 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL03229:Nek10
|
APN |
14 |
14,986,686 (GRCm38) |
missense |
probably benign |
0.10 |
|
P0041:Nek10
|
UTSW |
14 |
14,861,603 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0007:Nek10
|
UTSW |
14 |
14,840,574 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0007:Nek10
|
UTSW |
14 |
14,840,574 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0142:Nek10
|
UTSW |
14 |
14,861,560 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0433:Nek10
|
UTSW |
14 |
14,860,927 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0633:Nek10
|
UTSW |
14 |
14,857,782 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1087:Nek10
|
UTSW |
14 |
14,827,059 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R1184:Nek10
|
UTSW |
14 |
14,931,325 (GRCm38) |
splice site |
probably benign |
|
|
R1250:Nek10
|
UTSW |
14 |
14,853,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1371:Nek10
|
UTSW |
14 |
14,850,983 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1506:Nek10
|
UTSW |
14 |
14,999,078 (GRCm38) |
splice site |
probably benign |
|
|
R1829:Nek10
|
UTSW |
14 |
14,863,454 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1831:Nek10
|
UTSW |
14 |
14,842,789 (GRCm38) |
missense |
probably benign |
|
|
R1833:Nek10
|
UTSW |
14 |
14,842,789 (GRCm38) |
missense |
probably benign |
|
|
R1990:Nek10
|
UTSW |
14 |
14,860,764 (GRCm38) |
missense |
probably benign |
|
|
R1997:Nek10
|
UTSW |
14 |
14,827,003 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2011:Nek10
|
UTSW |
14 |
14,885,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2158:Nek10
|
UTSW |
14 |
14,885,047 (GRCm38) |
splice site |
probably null |
|
|
R2288:Nek10
|
UTSW |
14 |
14,853,956 (GRCm38) |
nonsense |
probably null |
|
|
R2568:Nek10
|
UTSW |
14 |
14,999,112 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2907:Nek10
|
UTSW |
14 |
14,980,613 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2965:Nek10
|
UTSW |
14 |
14,836,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3922:Nek10
|
UTSW |
14 |
14,861,585 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4032:Nek10
|
UTSW |
14 |
14,853,877 (GRCm38) |
splice site |
probably null |
|
|
R4700:Nek10
|
UTSW |
14 |
14,842,841 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4742:Nek10
|
UTSW |
14 |
14,861,624 (GRCm38) |
missense |
probably null |
0.03 |
|
R4785:Nek10
|
UTSW |
14 |
14,855,714 (GRCm38) |
missense |
probably benign |
|
|
R4890:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4891:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4920:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4924:Nek10
|
UTSW |
14 |
14,846,594 (GRCm38) |
splice site |
probably null |
|
|
R4928:Nek10
|
UTSW |
14 |
14,930,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4948:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4952:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4953:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5092:Nek10
|
UTSW |
14 |
14,820,851 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5097:Nek10
|
UTSW |
14 |
14,857,851 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5593:Nek10
|
UTSW |
14 |
14,980,544 (GRCm38) |
nonsense |
probably null |
|
|
R5696:Nek10
|
UTSW |
14 |
14,860,736 (GRCm38) |
splice site |
probably null |
|
|
R5813:Nek10
|
UTSW |
14 |
14,986,704 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5829:Nek10
|
UTSW |
14 |
14,865,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5872:Nek10
|
UTSW |
14 |
14,850,896 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5939:Nek10
|
UTSW |
14 |
14,931,290 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R6025:Nek10
|
UTSW |
14 |
14,865,633 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6235:Nek10
|
UTSW |
14 |
14,821,113 (GRCm38) |
nonsense |
probably null |
|
|
R6539:Nek10
|
UTSW |
14 |
14,860,789 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6542:Nek10
|
UTSW |
14 |
14,999,108 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6561:Nek10
|
UTSW |
14 |
14,828,448 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6659:Nek10
|
UTSW |
14 |
14,861,684 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7039:Nek10
|
UTSW |
14 |
14,986,700 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7039:Nek10
|
UTSW |
14 |
14,826,946 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7102:Nek10
|
UTSW |
14 |
14,828,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7185:Nek10
|
UTSW |
14 |
14,846,621 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7202:Nek10
|
UTSW |
14 |
14,836,171 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7251:Nek10
|
UTSW |
14 |
14,853,965 (GRCm38) |
missense |
probably benign |
|
|
R7345:Nek10
|
UTSW |
14 |
14,955,503 (GRCm38) |
missense |
probably benign |
|
|
R7590:Nek10
|
UTSW |
14 |
15,006,693 (GRCm38) |
makesense |
probably null |
|
|
R7593:Nek10
|
UTSW |
14 |
14,826,955 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7616:Nek10
|
UTSW |
14 |
14,937,759 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7635:Nek10
|
UTSW |
14 |
14,850,932 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7817:Nek10
|
UTSW |
14 |
15,001,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7826:Nek10
|
UTSW |
14 |
14,860,846 (GRCm38) |
splice site |
probably null |
|
|
R7986:Nek10
|
UTSW |
14 |
15,001,020 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8765:Nek10
|
UTSW |
14 |
14,999,104 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8856:Nek10
|
UTSW |
14 |
14,937,610 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8973:Nek10
|
UTSW |
14 |
14,931,321 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9002:Nek10
|
UTSW |
14 |
14,980,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9088:Nek10
|
UTSW |
14 |
14,931,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9195:Nek10
|
UTSW |
14 |
14,821,139 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9464:Nek10
|
UTSW |
14 |
14,937,766 (GRCm38) |
missense |
probably benign |
|
|
R9511:Nek10
|
UTSW |
14 |
14,828,511 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9529:Nek10
|
UTSW |
14 |
14,850,833 (GRCm38) |
missense |
probably benign |
|
|
R9590:Nek10
|
UTSW |
14 |
14,853,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Nek10
|
UTSW |
14 |
15,001,157 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Nek10
|
UTSW |
14 |
14,853,948 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGCTTTGTGCTGAGC -3'
(R):5'- TCCCAAACATGGTAGCAATTTGTGT -3'
Sequencing Primer
(F):5'- TTGTGCTGAGCCCCAGATCAAG -3'
(R):5'- TACCCGTGGTTCCAGATGTAGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation