Incidental Mutation 'R3714:Mink1'
ID |
259806 |
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 |
040707-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3714 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70453707-70505309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 70499776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 773
(R773L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102558]
[ENSMUST00000102559]
|
AlphaFold |
Q9JM52 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072237
AA Change: R773L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072091 Gene: ENSMUSG00000020827 AA Change: R773L
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: R773L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000072649 Gene: ENSMUSG00000020827 AA Change: R773L
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: R770L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000078234 Gene: ENSMUSG00000020827 AA Change: R770L
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: R736L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099618 Gene: ENSMUSG00000020827 AA Change: R736L
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: R736L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099619 Gene: ENSMUSG00000020827 AA Change: R736L
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 |
unknown
Transcript: ENSMUST00000136663
AA Change: R626L
|
SMART Domains |
Protein: ENSMUSP00000117959 Gene: ENSMUSG00000020827 AA Change: R626L
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: ENSMUST00000133310
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153503
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152857
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142650
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178764
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149845
|
Meta Mutation Damage Score |
0.0796 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
Adck5 |
G |
A |
15: 76,478,138 (GRCm39) |
V229I |
probably damaging |
Het |
Afg2a |
G |
A |
3: 37,487,358 (GRCm39) |
V407I |
probably benign |
Het |
Ankk1 |
T |
G |
9: 49,333,013 (GRCm39) |
D157A |
possibly damaging |
Het |
Atp1a2 |
A |
G |
1: 172,106,551 (GRCm39) |
I817T |
probably damaging |
Het |
Ccdc87 |
A |
G |
19: 4,890,287 (GRCm39) |
S260G |
probably benign |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Cibar2 |
C |
T |
8: 120,901,576 (GRCm39) |
R43H |
probably damaging |
Het |
Cntnap5c |
C |
T |
17: 58,199,062 (GRCm39) |
Q119* |
probably null |
Het |
Cpb2 |
T |
A |
14: 75,520,657 (GRCm39) |
|
probably null |
Het |
Ddx47 |
T |
A |
6: 134,996,025 (GRCm39) |
I329K |
probably damaging |
Het |
Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
Fcsk |
G |
T |
8: 111,613,891 (GRCm39) |
D723E |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
Garem1 |
T |
A |
18: 21,281,947 (GRCm39) |
E136D |
probably damaging |
Het |
Haus6 |
A |
G |
4: 86,521,104 (GRCm39) |
I178T |
probably benign |
Het |
Igkv3-2 |
T |
G |
6: 70,675,480 (GRCm39) |
V10G |
possibly damaging |
Het |
Jrkl |
A |
C |
9: 13,244,236 (GRCm39) |
I475R |
possibly damaging |
Het |
Lcmt1 |
C |
T |
7: 123,003,683 (GRCm39) |
H146Y |
probably damaging |
Het |
Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
Mb |
A |
G |
15: 76,901,789 (GRCm39) |
V102A |
probably benign |
Het |
Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
Ndufs7 |
T |
C |
10: 80,088,255 (GRCm39) |
I14T |
probably benign |
Het |
Nlrp4b |
T |
C |
7: 10,448,808 (GRCm39) |
V337A |
probably benign |
Het |
Npm2 |
T |
C |
14: 70,890,060 (GRCm39) |
|
probably null |
Het |
Or10ab4 |
T |
C |
7: 107,654,642 (GRCm39) |
F151S |
probably damaging |
Het |
Or2h2c |
A |
G |
17: 37,422,227 (GRCm39) |
Y216H |
probably damaging |
Het |
Or4a68 |
G |
A |
2: 89,269,727 (GRCm39) |
L299F |
probably damaging |
Het |
Prdm9 |
T |
A |
17: 15,777,623 (GRCm39) |
K154* |
probably null |
Het |
Prkch |
C |
T |
12: 73,822,290 (GRCm39) |
P630S |
probably damaging |
Het |
Ptprn |
T |
C |
1: 75,229,411 (GRCm39) |
|
probably null |
Het |
Rnf31 |
T |
A |
14: 55,840,851 (GRCm39) |
D884E |
probably damaging |
Het |
Semp2l2a |
T |
G |
8: 13,886,736 (GRCm39) |
I452L |
probably benign |
Het |
Slc22a27 |
A |
T |
19: 7,903,815 (GRCm39) |
N107K |
possibly damaging |
Het |
Tln1 |
G |
T |
4: 43,540,597 (GRCm39) |
A1468D |
probably damaging |
Het |
Tmem185b |
T |
A |
1: 119,454,781 (GRCm39) |
F181I |
possibly damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,958,351 (GRCm39) |
|
probably benign |
Het |
Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
probably 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 |
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 |
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'- TCTAGGTAATGGAGTTGCCCC -3'
(R):5'- TATCTACAGAATGGGCCCGG -3'
Sequencing Primer
(F):5'- TAATGGAGTTGCCCCCTGAC -3'
(R):5'- GGTCCTAGGCCACCAAA -3'
|
Posted On |
2015-01-23 |