Incidental Mutation 'R0025:Mink1'
| ID |
15122 |
| 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 |
038320-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0025 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70562881-70614483 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70613042 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1263
(W1263R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014753]
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102556]
[ENSMUST00000102558]
[ENSMUST00000102559]
[ENSMUST00000135865]
[ENSMUST00000144960]
[ENSMUST00000180052]
|
| 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: W1263R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: W1263R
| 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: W1256R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: W1256R
| 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: W1253R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: W1253R
| 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 |
probably damaging
Transcript: ENSMUST00000102558
AA Change: W1219R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: W1219R
| 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: W1227R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: W1227R
| 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 |
unknown
Transcript: ENSMUST00000136663
AA Change: W1116R
|
| SMART Domains |
Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: W1116R
| 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: ENSMUST00000135920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142650
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9716 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 62.5%
- 10x: 33.3%
- 20x: 15.9%
|
| Validation Efficiency |
95% (69/73) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
T |
7: 119,658,315 |
T435S |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,500,200 |
T602I |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,785,534 |
D231V |
probably damaging |
Het |
| Ampd3 |
G |
A |
7: 110,793,669 |
D215N |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,503,793 |
S332P |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,271,885 |
E161G |
probably benign |
Het |
| Ces2g |
A |
G |
8: 104,965,996 |
|
probably benign |
Het |
| Cntnap4 |
T |
G |
8: 112,803,164 |
L668R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,748,644 |
V245A |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,550,137 |
Y302C |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,534,783 |
H158Y |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,186,183 |
I428V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,969,955 |
|
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,913,268 |
Q1419K |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,066,000 |
K268E |
probably damaging |
Het |
| Eps15l1 |
T |
G |
8: 72,381,497 |
|
probably benign |
Het |
| Gm10800 |
C |
A |
2: 98,666,580 |
M209I |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,874,308 |
P514L |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,285,922 |
D160G |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,844,568 |
|
probably null |
Het |
| Nlrp14 |
A |
T |
7: 107,181,258 |
|
probably benign |
Het |
| Osbp |
T |
C |
19: 11,983,958 |
Y454H |
probably damaging |
Het |
| Pak7 |
T |
C |
2: 136,100,784 |
K479E |
possibly damaging |
Het |
| Pard3 |
C |
A |
8: 127,161,308 |
D73E |
probably damaging |
Het |
| Pmp22 |
A |
T |
11: 63,158,250 |
|
probably null |
Het |
| Scn4a |
C |
T |
11: 106,324,560 |
V1197I |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,162,795 |
L339P |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 118,212,443 |
T104I |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,092,564 |
Y74N |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,762,748 |
H1102Q |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,230,134 |
K450E |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,100,390 |
Q497R |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,631,004 |
|
probably benign |
Het |
| Vit |
G |
A |
17: 78,599,835 |
G229R |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,682,812 |
I2658N |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,859,307 |
D632E |
probably damaging |
Het |
| Zcchc6 |
A |
T |
13: 59,805,328 |
D99E |
probably benign |
Het |
| Zfp654 |
A |
G |
16: 64,784,818 |
V466A |
probably benign |
Het |
| Zfp941 |
T |
C |
7: 140,813,272 |
D58G |
probably benign |
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 |
|
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 |
|
|
R2859:Mink1
|
UTSW |
11 |
70612508 |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-12 |
Incidental Mutation