Incidental Mutation 'R3717:Mink1'
ID |
259969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mink1
|
Ensembl Gene |
ENSMUSG00000020827 |
Gene Name |
misshapen-like kinase 1 (zebrafish) |
Synonyms |
Misshapen/NIKs-related kinase, Map4k6, Ysk2, MINK |
MMRRC Submission |
040709-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70453707-70505309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70498587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 584
(L584Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102558]
[ENSMUST00000102559]
|
AlphaFold |
Q9JM52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072237
AA Change: L584Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000072091 Gene: ENSMUSG00000020827 AA Change: L584Q
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
low complexity region
|
837 |
874 |
N/A |
INTRINSIC |
CNH
|
1026 |
1324 |
1.58e-113 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072873
AA Change: L584Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000072649 Gene: ENSMUSG00000020827 AA Change: L584Q
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
low complexity region
|
829 |
853 |
N/A |
INTRINSIC |
CNH
|
1019 |
1317 |
1.58e-113 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079244
AA Change: L581Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078234 Gene: ENSMUSG00000020827 AA Change: L581Q
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
314 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
348 |
493 |
N/A |
INTRINSIC |
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
low complexity region
|
643 |
656 |
N/A |
INTRINSIC |
low complexity region
|
716 |
735 |
N/A |
INTRINSIC |
low complexity region
|
826 |
850 |
N/A |
INTRINSIC |
CNH
|
1016 |
1314 |
1.58e-113 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102558
AA Change: L584Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099618 Gene: ENSMUSG00000020827 AA Change: L584Q
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
792 |
816 |
N/A |
INTRINSIC |
CNH
|
982 |
1280 |
1.58e-113 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102559
AA Change: L584Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099619 Gene: ENSMUSG00000020827 AA Change: L584Q
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
low complexity region
|
800 |
824 |
N/A |
INTRINSIC |
CNH
|
990 |
1288 |
1.58e-113 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125853
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153503
|
Predicted Effect |
unknown
Transcript: ENSMUST00000136663
AA Change: L437Q
|
SMART Domains |
Protein: ENSMUSP00000117959 Gene: ENSMUSG00000020827 AA Change: L437Q
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
1 |
140 |
2.3e-22 |
PFAM |
Pfam:Pkinase
|
1 |
143 |
1.6e-30 |
PFAM |
low complexity region
|
161 |
192 |
N/A |
INTRINSIC |
coiled coil region
|
204 |
349 |
N/A |
INTRINSIC |
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
low complexity region
|
474 |
487 |
N/A |
INTRINSIC |
low complexity region
|
500 |
513 |
N/A |
INTRINSIC |
low complexity region
|
573 |
592 |
N/A |
INTRINSIC |
low complexity region
|
691 |
728 |
N/A |
INTRINSIC |
CNH
|
880 |
1178 |
1.58e-113 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142650
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133310
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152857
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149845
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178764
|
Meta Mutation Damage Score |
0.0603 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
Hoxd10 |
C |
T |
2: 74,524,474 (GRCm39) |
T262I |
probably damaging |
Het |
Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
Kbtbd3 |
A |
T |
9: 4,330,598 (GRCm39) |
H324L |
probably benign |
Het |
Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
Het |
Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
St8sia6 |
T |
C |
2: 13,661,745 (GRCm39) |
N362S |
possibly damaging |
Het |
Tmub2 |
G |
T |
11: 102,175,887 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
Vps51 |
G |
A |
19: 6,127,198 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
probably benign |
Het |
|
Other mutations in Mink1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Mink1
|
APN |
11 |
70,494,638 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00709:Mink1
|
APN |
11 |
70,503,845 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01064:Mink1
|
APN |
11 |
70,494,307 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02612:Mink1
|
APN |
11 |
70,488,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02797:Mink1
|
APN |
11 |
70,501,176 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03056:Mink1
|
APN |
11 |
70,503,409 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03066:Mink1
|
APN |
11 |
70,499,715 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03185:Mink1
|
APN |
11 |
70,494,686 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4498001:Mink1
|
UTSW |
11 |
70,489,714 (GRCm39) |
missense |
probably benign |
0.05 |
R0025:Mink1
|
UTSW |
11 |
70,503,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Mink1
|
UTSW |
11 |
70,503,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R0488:Mink1
|
UTSW |
11 |
70,488,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Mink1
|
UTSW |
11 |
70,492,502 (GRCm39) |
missense |
probably damaging |
0.96 |
R0828:Mink1
|
UTSW |
11 |
70,500,971 (GRCm39) |
nonsense |
probably null |
|
R1081:Mink1
|
UTSW |
11 |
70,497,861 (GRCm39) |
missense |
probably benign |
0.07 |
R1175:Mink1
|
UTSW |
11 |
70,502,166 (GRCm39) |
missense |
probably benign |
0.02 |
R1441:Mink1
|
UTSW |
11 |
70,497,940 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1532:Mink1
|
UTSW |
11 |
70,492,833 (GRCm39) |
missense |
probably null |
1.00 |
R1545:Mink1
|
UTSW |
11 |
70,489,717 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1634:Mink1
|
UTSW |
11 |
70,499,706 (GRCm39) |
missense |
probably benign |
0.00 |
R1932:Mink1
|
UTSW |
11 |
70,499,254 (GRCm39) |
critical splice donor site |
probably null |
|
R2033:Mink1
|
UTSW |
11 |
70,503,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Mink1
|
UTSW |
11 |
70,494,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:Mink1
|
UTSW |
11 |
70,492,550 (GRCm39) |
splice site |
probably null |
|
R2268:Mink1
|
UTSW |
11 |
70,492,550 (GRCm39) |
splice site |
probably null |
|
R2859:Mink1
|
UTSW |
11 |
70,503,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R3713:Mink1
|
UTSW |
11 |
70,499,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3714:Mink1
|
UTSW |
11 |
70,499,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3715:Mink1
|
UTSW |
11 |
70,499,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3716:Mink1
|
UTSW |
11 |
70,498,587 (GRCm39) |
missense |
probably damaging |
0.98 |
R4607:Mink1
|
UTSW |
11 |
70,496,893 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4735:Mink1
|
UTSW |
11 |
70,500,086 (GRCm39) |
splice site |
probably null |
|
R4790:Mink1
|
UTSW |
11 |
70,489,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R4847:Mink1
|
UTSW |
11 |
70,492,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Mink1
|
UTSW |
11 |
70,502,418 (GRCm39) |
missense |
probably damaging |
0.98 |
R4860:Mink1
|
UTSW |
11 |
70,502,418 (GRCm39) |
missense |
probably damaging |
0.98 |
R5081:Mink1
|
UTSW |
11 |
70,495,970 (GRCm39) |
missense |
probably damaging |
0.98 |
R5310:Mink1
|
UTSW |
11 |
70,498,169 (GRCm39) |
missense |
probably benign |
0.33 |
R5677:Mink1
|
UTSW |
11 |
70,495,991 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5767:Mink1
|
UTSW |
11 |
70,496,901 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5795:Mink1
|
UTSW |
11 |
70,498,616 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5888:Mink1
|
UTSW |
11 |
70,500,885 (GRCm39) |
unclassified |
probably benign |
|
R5950:Mink1
|
UTSW |
11 |
70,500,412 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6024:Mink1
|
UTSW |
11 |
70,489,915 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6034:Mink1
|
UTSW |
11 |
70,497,866 (GRCm39) |
small deletion |
probably benign |
|
R6034:Mink1
|
UTSW |
11 |
70,497,866 (GRCm39) |
small deletion |
probably benign |
|
R6058:Mink1
|
UTSW |
11 |
70,502,546 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6144:Mink1
|
UTSW |
11 |
70,501,478 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6154:Mink1
|
UTSW |
11 |
70,500,927 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6218:Mink1
|
UTSW |
11 |
70,489,720 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6262:Mink1
|
UTSW |
11 |
70,494,151 (GRCm39) |
splice site |
probably null |
|
R6269:Mink1
|
UTSW |
11 |
70,489,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Mink1
|
UTSW |
11 |
70,502,261 (GRCm39) |
nonsense |
probably null |
|
R6301:Mink1
|
UTSW |
11 |
70,503,120 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6603:Mink1
|
UTSW |
11 |
70,500,419 (GRCm39) |
missense |
probably damaging |
0.96 |
R6876:Mink1
|
UTSW |
11 |
70,498,261 (GRCm39) |
missense |
probably benign |
0.02 |
R7030:Mink1
|
UTSW |
11 |
70,498,601 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7050:Mink1
|
UTSW |
11 |
70,503,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7094:Mink1
|
UTSW |
11 |
70,500,901 (GRCm39) |
splice site |
probably null |
|
R7135:Mink1
|
UTSW |
11 |
70,494,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R7238:Mink1
|
UTSW |
11 |
70,502,305 (GRCm39) |
critical splice donor site |
probably null |
|
R7320:Mink1
|
UTSW |
11 |
70,489,899 (GRCm39) |
missense |
probably benign |
0.23 |
R7396:Mink1
|
UTSW |
11 |
70,495,994 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7446:Mink1
|
UTSW |
11 |
70,500,455 (GRCm39) |
missense |
probably benign |
0.18 |
R7723:Mink1
|
UTSW |
11 |
70,503,736 (GRCm39) |
missense |
probably benign |
0.16 |
R7896:Mink1
|
UTSW |
11 |
70,503,108 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8058:Mink1
|
UTSW |
11 |
70,494,594 (GRCm39) |
nonsense |
probably null |
|
R8082:Mink1
|
UTSW |
11 |
70,504,103 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8160:Mink1
|
UTSW |
11 |
70,496,907 (GRCm39) |
nonsense |
probably null |
|
R8335:Mink1
|
UTSW |
11 |
70,500,401 (GRCm39) |
missense |
probably damaging |
0.97 |
R8353:Mink1
|
UTSW |
11 |
70,501,154 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8453:Mink1
|
UTSW |
11 |
70,501,154 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8732:Mink1
|
UTSW |
11 |
70,500,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9072:Mink1
|
UTSW |
11 |
70,499,207 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9073:Mink1
|
UTSW |
11 |
70,499,207 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9324:Mink1
|
UTSW |
11 |
70,502,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R9596:Mink1
|
UTSW |
11 |
70,497,915 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGTCTTCTGCGCACTAC -3'
(R):5'- TCATTATCAGGCCGAACCCAG -3'
Sequencing Primer
(F):5'- TCTTCTGCGCACTACAGGGC -3'
(R):5'- TCTGAATTCTGGCGGATGAC -3'
|
Posted On |
2015-01-23 |