Incidental Mutation 'R6262:Mink1'
ID |
506775 |
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 |
045016-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6262 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70453707-70505309 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 70494151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102558]
[ENSMUST00000102559]
|
AlphaFold |
Q9JM52 |
Predicted Effect |
probably null
Transcript: ENSMUST00000072237
|
SMART Domains |
Protein: ENSMUSP00000072091 Gene: ENSMUSG00000020827
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 |
probably null
Transcript: ENSMUST00000072873
|
SMART Domains |
Protein: ENSMUSP00000072649 Gene: ENSMUSG00000020827
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 |
probably null
Transcript: ENSMUST00000079244
|
SMART Domains |
Protein: ENSMUSP00000078234 Gene: ENSMUSG00000020827
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 |
probably null
Transcript: ENSMUST00000102558
|
SMART Domains |
Protein: ENSMUSP00000099618 Gene: ENSMUSG00000020827
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 |
probably null
Transcript: ENSMUST00000102559
|
SMART Domains |
Protein: ENSMUSP00000099619 Gene: ENSMUSG00000020827
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: ENSMUST00000133310
|
Predicted Effect |
probably null
Transcript: ENSMUST00000136663
|
SMART Domains |
Protein: ENSMUSP00000117959 Gene: ENSMUSG00000020827
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: ENSMUST00000153503
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178764
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152857
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149845
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
97% (58/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,092,917 (GRCm39) |
T289I |
probably benign |
Het |
Abca2 |
T |
C |
2: 25,334,922 (GRCm39) |
Y1965H |
possibly damaging |
Het |
Adam26a |
T |
C |
8: 44,022,125 (GRCm39) |
N455S |
possibly damaging |
Het |
Art5 |
C |
T |
7: 101,747,338 (GRCm39) |
G147D |
probably benign |
Het |
Atp5f1a |
G |
A |
18: 77,868,912 (GRCm39) |
V429M |
probably damaging |
Het |
Calr4 |
A |
T |
4: 109,108,564 (GRCm39) |
N213I |
probably damaging |
Het |
Cchcr1 |
T |
C |
17: 35,841,413 (GRCm39) |
S810P |
probably benign |
Het |
Cdh4 |
A |
T |
2: 179,439,419 (GRCm39) |
R189W |
probably damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,212,606 (GRCm39) |
D84G |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,705,420 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
T |
A |
6: 45,037,046 (GRCm39) |
|
probably null |
Het |
Cntnap4 |
T |
C |
8: 113,529,843 (GRCm39) |
Y684H |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,011,655 (GRCm39) |
V292E |
probably damaging |
Het |
Dap |
A |
G |
15: 31,235,960 (GRCm39) |
T10A |
probably benign |
Het |
Dnah11 |
G |
A |
12: 117,894,913 (GRCm39) |
R3645C |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,772,631 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,784,579 (GRCm39) |
M2787K |
probably benign |
Het |
Efr3a |
T |
C |
15: 65,729,323 (GRCm39) |
S675P |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,133,680 (GRCm39) |
K451E |
probably damaging |
Het |
Grin3b |
A |
T |
10: 79,810,203 (GRCm39) |
M570L |
probably benign |
Het |
Hs2st1 |
A |
G |
3: 144,140,374 (GRCm39) |
F316L |
probably damaging |
Het |
Hs6st3 |
A |
G |
14: 119,376,403 (GRCm39) |
T193A |
possibly damaging |
Het |
Hspg2 |
A |
T |
4: 137,246,997 (GRCm39) |
D1108V |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,653,720 (GRCm39) |
L86Q |
probably damaging |
Het |
Inpp5j |
A |
G |
11: 3,452,615 (GRCm39) |
S212P |
probably benign |
Het |
Junb |
A |
G |
8: 85,704,359 (GRCm39) |
S234P |
possibly damaging |
Het |
Lhx3 |
GTGTTGT |
GTGT |
2: 26,092,435 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,366,983 (GRCm39) |
S1028P |
possibly damaging |
Het |
Met |
C |
A |
6: 17,553,403 (GRCm39) |
A1063E |
probably benign |
Het |
Mtor |
A |
G |
4: 148,610,552 (GRCm39) |
E1621G |
possibly damaging |
Het |
Mug2 |
T |
C |
6: 122,052,214 (GRCm39) |
Y991H |
probably damaging |
Het |
Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
Nkx6-3 |
T |
C |
8: 23,643,863 (GRCm39) |
V88A |
probably benign |
Het |
Nr3c2 |
A |
G |
8: 77,635,262 (GRCm39) |
Q121R |
possibly damaging |
Het |
Nup155 |
T |
C |
15: 8,186,225 (GRCm39) |
V1329A |
probably benign |
Het |
Or2d36 |
T |
C |
7: 106,746,918 (GRCm39) |
Y132H |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,738 (GRCm39) |
V224A |
probably benign |
Het |
Pcdhb17 |
T |
A |
18: 37,619,751 (GRCm39) |
F514I |
probably damaging |
Het |
Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
Prl8a1 |
A |
T |
13: 27,758,126 (GRCm39) |
H194Q |
possibly damaging |
Het |
Sh3tc1 |
C |
G |
5: 35,857,117 (GRCm39) |
E1241Q |
probably damaging |
Het |
Slc6a6 |
A |
T |
6: 91,732,013 (GRCm39) |
H614L |
possibly damaging |
Het |
Sort1 |
A |
G |
3: 108,217,527 (GRCm39) |
Y143C |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,141,360 (GRCm39) |
W569R |
probably null |
Het |
Taco1 |
A |
T |
11: 105,962,693 (GRCm39) |
K127* |
probably null |
Het |
Tas2r110 |
T |
C |
6: 132,845,638 (GRCm39) |
I223T |
probably damaging |
Het |
Tex21 |
A |
G |
12: 76,259,306 (GRCm39) |
I329T |
probably damaging |
Het |
Tmprss11b |
T |
C |
5: 86,810,119 (GRCm39) |
H287R |
probably benign |
Het |
Trim30a |
A |
G |
7: 104,060,741 (GRCm39) |
L345P |
probably benign |
Het |
Vmn1r62 |
G |
A |
7: 5,678,556 (GRCm39) |
C79Y |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,606,351 (GRCm39) |
K421R |
probably benign |
Het |
Vwde |
C |
T |
6: 13,205,020 (GRCm39) |
S287N |
probably damaging |
Het |
Xrcc4 |
A |
T |
13: 89,926,906 (GRCm39) |
M300K |
probably benign |
Het |
Zan |
A |
T |
5: 137,427,747 (GRCm39) |
|
probably null |
Het |
Zbtb7c |
A |
G |
18: 76,270,413 (GRCm39) |
D167G |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,249,881 (GRCm39) |
Y1165C |
probably damaging |
Het |
Zfp326 |
T |
A |
5: 106,036,353 (GRCm39) |
L88Q |
probably damaging |
Het |
Zfp667 |
A |
G |
7: 6,307,973 (GRCm39) |
T214A |
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 |
R3717: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 |
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'- TGGGTGAAGGGAGTTACTATGTAATAC -3'
(R):5'- AAGCCTTCCCTGACAGACTG -3'
Sequencing Primer
(F):5'- ACTATGTAATACTGTCAGGAAGGTG -3'
(R):5'- GACATACCATTTCTTTGACTTGAGC -3'
|
Posted On |
2018-03-15 |