Incidental Mutation 'R0488:Mink1'
ID |
42423 |
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 |
038687-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0488 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70453707-70505309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 70488030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 32
(G32C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102558]
[ENSMUST00000102559]
|
AlphaFold |
Q9JM52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072237
AA Change: G32C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072091 Gene: ENSMUSG00000020827 AA Change: G32C
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 damaging
Transcript: ENSMUST00000072873
AA Change: G32C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072649 Gene: ENSMUSG00000020827 AA Change: G32C
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 damaging
Transcript: ENSMUST00000079244
AA Change: G32C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078234 Gene: ENSMUSG00000020827 AA Change: G32C
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 damaging
Transcript: ENSMUST00000102558
AA Change: G32C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099618 Gene: ENSMUSG00000020827 AA Change: G32C
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 damaging
Transcript: ENSMUST00000102559
AA Change: G32C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099619 Gene: ENSMUSG00000020827 AA Change: G32C
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 benign
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 |
|
Meta Mutation Damage Score |
0.9625 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (54/54) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
G |
11: 46,029,757 (GRCm39) |
L734R |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,621,302 (GRCm39) |
I513T |
probably damaging |
Het |
Adgrl2 |
A |
G |
3: 148,552,541 (GRCm39) |
V654A |
probably damaging |
Het |
Agl |
A |
T |
3: 116,548,611 (GRCm39) |
Y1249* |
probably null |
Het |
Ankar |
T |
A |
1: 72,697,891 (GRCm39) |
Q996H |
probably damaging |
Het |
Aqp12 |
T |
C |
1: 92,936,378 (GRCm39) |
Y235H |
probably damaging |
Het |
Arsb |
T |
C |
13: 94,077,013 (GRCm39) |
V460A |
probably benign |
Het |
Baiap3 |
A |
G |
17: 25,467,444 (GRCm39) |
|
probably null |
Het |
Cd44 |
T |
C |
2: 102,664,564 (GRCm39) |
|
probably benign |
Het |
Clec4b1 |
T |
A |
6: 123,048,441 (GRCm39) |
I192N |
probably damaging |
Het |
Cplane2 |
A |
G |
4: 140,941,712 (GRCm39) |
D14G |
probably benign |
Het |
Cps1 |
A |
C |
1: 67,187,967 (GRCm39) |
|
probably benign |
Het |
Dab2 |
T |
C |
15: 6,454,135 (GRCm39) |
L215S |
probably damaging |
Het |
E2f4 |
G |
A |
8: 106,025,171 (GRCm39) |
V84I |
probably damaging |
Het |
Edem2 |
T |
C |
2: 155,558,043 (GRCm39) |
T197A |
probably damaging |
Het |
Eno2 |
T |
A |
6: 124,740,837 (GRCm39) |
M121L |
probably benign |
Het |
Ephb1 |
A |
G |
9: 101,841,207 (GRCm39) |
V757A |
probably damaging |
Het |
Etv5 |
T |
A |
16: 22,231,695 (GRCm39) |
I106F |
probably damaging |
Het |
Foxj3 |
T |
A |
4: 119,477,187 (GRCm39) |
Y298* |
probably null |
Het |
Gm12185 |
A |
G |
11: 48,798,666 (GRCm39) |
L609S |
probably damaging |
Het |
Gm5884 |
T |
C |
6: 128,623,031 (GRCm39) |
|
noncoding transcript |
Het |
Havcr1 |
A |
G |
11: 46,643,398 (GRCm39) |
Y106C |
probably damaging |
Het |
Jmjd1c |
A |
G |
10: 67,076,506 (GRCm39) |
N2110S |
probably damaging |
Het |
Kif2b |
T |
C |
11: 91,467,798 (GRCm39) |
K162E |
probably benign |
Het |
Micu2 |
T |
C |
14: 58,169,699 (GRCm39) |
Y217C |
probably benign |
Het |
Mnat1 |
T |
A |
12: 73,217,413 (GRCm39) |
N96K |
probably damaging |
Het |
Mpp2 |
G |
T |
11: 101,952,427 (GRCm39) |
R349S |
possibly damaging |
Het |
Mrpl13 |
T |
A |
15: 55,402,544 (GRCm39) |
I59F |
probably benign |
Het |
Mybl2 |
T |
C |
2: 162,914,534 (GRCm39) |
|
probably benign |
Het |
Otogl |
T |
C |
10: 107,639,466 (GRCm39) |
E1382G |
probably benign |
Het |
Pclo |
A |
G |
5: 14,719,313 (GRCm39) |
E1150G |
unknown |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
Pla2g4a |
G |
A |
1: 149,747,196 (GRCm39) |
T322M |
probably damaging |
Het |
Pramel11 |
A |
T |
4: 143,621,973 (GRCm39) |
Y461N |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Ptprg |
A |
T |
14: 12,220,653 (GRCm38) |
D455V |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,395,745 (GRCm39) |
T1162A |
probably damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,911,723 (GRCm39) |
N55D |
possibly damaging |
Het |
Rc3h2 |
T |
C |
2: 37,279,600 (GRCm39) |
E543G |
probably damaging |
Het |
Rimklb |
G |
A |
6: 122,437,934 (GRCm39) |
T103I |
probably benign |
Het |
Samd4b |
T |
C |
7: 28,113,662 (GRCm39) |
Y101C |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tubgcp5 |
T |
A |
7: 55,479,086 (GRCm39) |
S979T |
probably damaging |
Het |
Vmn2r93 |
G |
A |
17: 18,546,311 (GRCm39) |
E728K |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,146,087 (GRCm39) |
|
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,067,591 (GRCm39) |
Y1457C |
probably damaging |
Het |
Wsb1 |
T |
C |
11: 79,135,326 (GRCm39) |
D225G |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,345,165 (GRCm39) |
S2469P |
possibly damaging |
Het |
Zeb1 |
T |
A |
18: 5,772,455 (GRCm39) |
C915S |
probably damaging |
Het |
Znfx1 |
C |
A |
2: 166,884,483 (GRCm39) |
R923L |
possibly damaging |
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 |
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 |
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'- TTTGAAAAGCCCTCTGGGCTATGAC -3'
(R):5'- CTGAATTTCCAGGTGAGCCCTGAC -3'
Sequencing Primer
(F):5'- GGGCTATGACTACCATGTTCC -3'
(R):5'- AGACTGGTTCCTGCCACAC -3'
|
Posted On |
2013-05-23 |