Incidental Mutation 'R2859:Mink1'
| ID |
252665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mink1
|
| Ensembl Gene |
ENSMUSG00000020827 |
| Gene Name |
misshapen-like kinase 1 (zebrafish) |
| Synonyms |
Map4k6, Ysk2, MINK, Misshapen/NIKs-related kinase |
| MMRRC Submission |
040449-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70562881-70614483 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70612508 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1143
(V1143A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014753]
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102556]
[ENSMUST00000102558]
[ENSMUST00000102559]
[ENSMUST00000135865]
[ENSMUST00000180052]
[ENSMUST00000144960]
|
| AlphaFold |
Q9JM52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014753
|
| SMART Domains |
Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
24 |
240 |
2.9e-65 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
475 |
6.5e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072237
AA Change: V1143A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: V1143A
| 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: V1136A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: V1136A
| 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: V1133A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: V1133A
| 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 benign
Transcript: ENSMUST00000102556
|
| SMART Domains |
Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
24 |
240 |
5.4e-65 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
474 |
2.9e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102558
AA Change: V1099A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: V1099A
| 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: V1107A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: V1107A
| 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: ENSMUST00000125387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135865
|
| SMART Domains |
Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135920
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136663
AA Change: V996A
|
| SMART Domains |
Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: V996A
| 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: ENSMUST00000152857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153503
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180052
|
| SMART Domains |
Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144960
|
| SMART Domains |
Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6917 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,281,314 |
Y1301C |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,005,214 |
N11K |
probably damaging |
Het |
| C87977 |
A |
G |
4: 144,209,622 |
S23P |
probably benign |
Het |
| Cadm3 |
A |
G |
1: 173,346,545 |
S34P |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,382,653 |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,474,017 |
I249F |
probably damaging |
Het |
| Cuzd1 |
C |
T |
7: 131,316,134 |
V246M |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,964,129 |
V61E |
probably damaging |
Het |
| Fam71b |
T |
C |
11: 46,405,212 |
I137T |
probably damaging |
Het |
| Fibin |
C |
T |
2: 110,362,197 |
R200H |
probably damaging |
Het |
| Fmo9 |
A |
C |
1: 166,673,667 |
F237C |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,128,969 |
T437K |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,107,596 |
S873* |
probably null |
Het |
| Ism2 |
T |
C |
12: 87,299,663 |
M15V |
unknown |
Het |
| Itk |
T |
G |
11: 46,344,835 |
|
probably benign |
Het |
| Mastl |
C |
A |
2: 23,139,967 |
C249F |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 48,198,336 |
R281S |
possibly damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,288,925 |
Y258H |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,822,365 |
H140R |
probably damaging |
Het |
| Olfr139 |
C |
T |
11: 74,044,827 |
G149D |
possibly damaging |
Het |
| Olfr311 |
T |
A |
11: 58,841,882 |
V256E |
probably benign |
Het |
| Olfr340 |
T |
C |
2: 36,453,130 |
S182P |
probably benign |
Het |
| Olfr401 |
T |
C |
11: 74,121,982 |
I231T |
probably damaging |
Het |
| Parm1 |
A |
G |
5: 91,594,306 |
T178A |
possibly damaging |
Het |
| Patl1 |
T |
C |
19: 11,923,831 |
F282L |
probably damaging |
Het |
| Phospho2 |
T |
C |
2: 69,795,851 |
V117A |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,042,647 |
|
probably null |
Het |
| Rbm17 |
A |
G |
2: 11,590,704 |
F230S |
possibly damaging |
Het |
| Robo3 |
C |
A |
9: 37,428,104 |
G196* |
probably null |
Het |
| Samhd1 |
A |
G |
2: 157,106,229 |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,154,061 |
1814 |
probably null |
Het |
| Thbs4 |
A |
G |
13: 92,790,708 |
F91S |
probably benign |
Het |
| Trim34b |
A |
T |
7: 104,336,232 |
N358I |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,794,629 |
L255P |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,048,193 |
I5F |
possibly damaging |
Het |
| Vrk2 |
C |
A |
11: 26,483,324 |
S286I |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,820,389 |
L263P |
probably damaging |
Het |
|
| Other mutations in Mink1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Mink1
|
APN |
11 |
70603812 |
missense |
probably damaging |
0.99 |
|
IGL00709:Mink1
|
APN |
11 |
70613019 |
missense |
probably damaging |
0.99 |
|
IGL01064:Mink1
|
APN |
11 |
70603481 |
missense |
probably benign |
0.05 |
|
IGL02612:Mink1
|
APN |
11 |
70597226 |
missense |
probably damaging |
1.00 |
|
IGL02797:Mink1
|
APN |
11 |
70610350 |
missense |
probably damaging |
1.00 |
|
IGL03056:Mink1
|
APN |
11 |
70612583 |
critical splice donor site |
probably null |
|
|
IGL03066:Mink1
|
APN |
11 |
70608889 |
missense |
probably benign |
0.01 |
|
IGL03185:Mink1
|
APN |
11 |
70603860 |
missense |
probably damaging |
1.00 |
|
PIT4498001:Mink1
|
UTSW |
11 |
70598888 |
missense |
probably benign |
0.05 |
|
R0025:Mink1
|
UTSW |
11 |
70613042 |
missense |
probably damaging |
1.00 |
|
R0025:Mink1
|
UTSW |
11 |
70613042 |
missense |
probably damaging |
1.00 |
|
R0488:Mink1
|
UTSW |
11 |
70597204 |
missense |
probably damaging |
1.00 |
|
R0637:Mink1
|
UTSW |
11 |
70601676 |
missense |
probably damaging |
0.96 |
|
R0828:Mink1
|
UTSW |
11 |
70610145 |
nonsense |
probably null |
|
|
R1081:Mink1
|
UTSW |
11 |
70607035 |
missense |
probably benign |
0.07 |
|
R1175:Mink1
|
UTSW |
11 |
70611340 |
missense |
probably benign |
0.02 |
|
R1441:Mink1
|
UTSW |
11 |
70607114 |
missense |
possibly damaging |
0.72 |
|
R1532:Mink1
|
UTSW |
11 |
70602007 |
missense |
probably null |
1.00 |
|
R1545:Mink1
|
UTSW |
11 |
70598891 |
missense |
possibly damaging |
0.60 |
|
R1634:Mink1
|
UTSW |
11 |
70608880 |
missense |
probably benign |
0.00 |
|
R1932:Mink1
|
UTSW |
11 |
70608428 |
critical splice donor site |
probably null |
|
|
R2033:Mink1
|
UTSW |
11 |
70612508 |
missense |
probably damaging |
1.00 |
|
R2184:Mink1
|
UTSW |
11 |
70603797 |
missense |
probably damaging |
1.00 |
|
R2267:Mink1
|
UTSW |
11 |
70601724 |
splice site |
probably null |
|
|
R2268:Mink1
|
UTSW |
11 |
70601724 |
splice site |
probably null |
|
|
R3713:Mink1
|
UTSW |
11 |
70608950 |
missense |
possibly damaging |
0.93 |
|
R3714:Mink1
|
UTSW |
11 |
70608950 |
missense |
possibly damaging |
0.93 |
|
R3715:Mink1
|
UTSW |
11 |
70608950 |
missense |
possibly damaging |
0.93 |
|
R3716:Mink1
|
UTSW |
11 |
70607761 |
missense |
probably damaging |
0.98 |
|
R3717:Mink1
|
UTSW |
11 |
70607761 |
missense |
probably damaging |
0.98 |
|
R4607:Mink1
|
UTSW |
11 |
70606067 |
missense |
possibly damaging |
0.72 |
|
R4735:Mink1
|
UTSW |
11 |
70609260 |
splice site |
probably null |
|
|
R4790:Mink1
|
UTSW |
11 |
70599041 |
missense |
probably damaging |
0.99 |
|
R4847:Mink1
|
UTSW |
11 |
70602028 |
missense |
probably damaging |
1.00 |
|
R4860:Mink1
|
UTSW |
11 |
70611592 |
missense |
probably damaging |
0.98 |
|
R4860:Mink1
|
UTSW |
11 |
70611592 |
missense |
probably damaging |
0.98 |
|
R5081:Mink1
|
UTSW |
11 |
70605144 |
missense |
probably damaging |
0.98 |
|
R5310:Mink1
|
UTSW |
11 |
70607343 |
missense |
probably benign |
0.33 |
|
R5677:Mink1
|
UTSW |
11 |
70605165 |
missense |
possibly damaging |
0.66 |
|
R5767:Mink1
|
UTSW |
11 |
70606075 |
missense |
possibly damaging |
0.53 |
|
R5795:Mink1
|
UTSW |
11 |
70607790 |
missense |
possibly damaging |
0.86 |
|
R5888:Mink1
|
UTSW |
11 |
70610059 |
unclassified |
probably benign |
|
|
R5950:Mink1
|
UTSW |
11 |
70609586 |
missense |
possibly damaging |
0.81 |
|
R6024:Mink1
|
UTSW |
11 |
70599089 |
missense |
possibly damaging |
0.71 |
|
R6034:Mink1
|
UTSW |
11 |
70607040 |
small deletion |
probably benign |
|
|
R6034:Mink1
|
UTSW |
11 |
70607040 |
small deletion |
probably benign |
|
|
R6058:Mink1
|
UTSW |
11 |
70611720 |
missense |
possibly damaging |
0.96 |
|
R6144:Mink1
|
UTSW |
11 |
70610652 |
missense |
possibly damaging |
0.66 |
|
R6154:Mink1
|
UTSW |
11 |
70610101 |
missense |
possibly damaging |
0.46 |
|
R6218:Mink1
|
UTSW |
11 |
70598894 |
missense |
possibly damaging |
0.94 |
|
R6262:Mink1
|
UTSW |
11 |
70603325 |
splice site |
probably null |
|
|
R6269:Mink1
|
UTSW |
11 |
70598987 |
missense |
probably damaging |
1.00 |
|
R6273:Mink1
|
UTSW |
11 |
70611435 |
nonsense |
probably null |
|
|
R6301:Mink1
|
UTSW |
11 |
70612294 |
missense |
possibly damaging |
0.71 |
|
R6603:Mink1
|
UTSW |
11 |
70609593 |
missense |
probably damaging |
0.96 |
|
R6876:Mink1
|
UTSW |
11 |
70607435 |
missense |
probably benign |
0.02 |
|
R7030:Mink1
|
UTSW |
11 |
70607775 |
missense |
possibly damaging |
0.46 |
|
R7050:Mink1
|
UTSW |
11 |
70612332 |
missense |
possibly damaging |
0.93 |
|
R7094:Mink1
|
UTSW |
11 |
70610075 |
splice site |
probably null |
|
|
R7135:Mink1
|
UTSW |
11 |
70603503 |
missense |
probably damaging |
1.00 |
|
R7238:Mink1
|
UTSW |
11 |
70611479 |
critical splice donor site |
probably null |
|
|
R7320:Mink1
|
UTSW |
11 |
70599073 |
missense |
probably benign |
0.23 |
|
R7396:Mink1
|
UTSW |
11 |
70605168 |
missense |
possibly damaging |
0.73 |
|
R7446:Mink1
|
UTSW |
11 |
70609629 |
missense |
probably benign |
0.18 |
|
R7723:Mink1
|
UTSW |
11 |
70612910 |
missense |
probably benign |
0.16 |
|
R7896:Mink1
|
UTSW |
11 |
70612282 |
missense |
possibly damaging |
0.71 |
|
R8058:Mink1
|
UTSW |
11 |
70603768 |
nonsense |
probably null |
|
|
R8082:Mink1
|
UTSW |
11 |
70613277 |
missense |
possibly damaging |
0.71 |
|
R8160:Mink1
|
UTSW |
11 |
70606081 |
nonsense |
probably null |
|
|
R8335:Mink1
|
UTSW |
11 |
70609575 |
missense |
probably damaging |
0.97 |
|
R8353:Mink1
|
UTSW |
11 |
70610328 |
missense |
possibly damaging |
0.70 |
|
R8453:Mink1
|
UTSW |
11 |
70610328 |
missense |
possibly damaging |
0.70 |
|
R8732:Mink1
|
UTSW |
11 |
70610076 |
critical splice acceptor site |
probably null |
|
|
R9072:Mink1
|
UTSW |
11 |
70608381 |
missense |
possibly damaging |
0.86 |
|
R9073:Mink1
|
UTSW |
11 |
70608381 |
missense |
possibly damaging |
0.86 |
|
R9324:Mink1
|
UTSW |
11 |
70611651 |
missense |
probably damaging |
0.98 |
|
R9596:Mink1
|
UTSW |
11 |
70607089 |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGCTTCGGAACAAGATC -3'
(R):5'- ACTGTCAGGTCCACCAGTAG -3'
Sequencing Primer
(F):5'- TGGCTTCGGAACAAGATCCTACAC -3'
(R):5'- TCAGGTCCACCAGTAGAGGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation