Incidental Mutation 'R1081:Mink1'
| ID |
152714 |
| 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 |
039167-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1081 (G1)
|
| Quality Score |
89 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70453707-70505309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70497861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 488
(L488P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102558]
[ENSMUST00000102559]
|
| AlphaFold |
Q9JM52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072237
AA Change: L488P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: L488P
| 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 benign
Transcript: ENSMUST00000072873
AA Change: L488P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: L488P
| 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 |
unknown
Transcript: ENSMUST00000079244
AA Change: L485P
|
| SMART Domains |
Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: L485P
| 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 |
unknown
Transcript: ENSMUST00000102558
AA Change: L488P
|
| SMART Domains |
Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: L488P
| 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 |
unknown
Transcript: ENSMUST00000102559
AA Change: L488P
|
| SMART Domains |
Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: L488P
| 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: ENSMUST00000178764
AA Change: L195P
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136663
AA Change: L341P
|
| SMART Domains |
Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: L341P
| 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 |
noncoding transcript
Transcript: ENSMUST00000152857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142650
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149845
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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 |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
| Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
| Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
| Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
| Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
| Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
| Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
| P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
| Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
| Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
| Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
| Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
| Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
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 |
|
|
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'- CCTCGGGAAAATGCCATCCTGAAC -3'
(R):5'- AGTGCTTGTTACAACATCCCAGCC -3'
Sequencing Primer
(F):5'- CTTTCCTACACTGGGATGGGAAC -3'
(R):5'- GGCTTGTCAGCAGGATTAATGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation