Incidental Mutation 'IGL03066:Mink1'
| ID |
409712 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mink1
|
| Ensembl Gene |
ENSMUSG00000020827 |
| Gene Name |
misshapen-like kinase 1 (zebrafish) |
| Synonyms |
Misshapen/NIKs-related kinase, Map4k6, Ysk2, MINK |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70453707-70505309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70499715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 750
(V750F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102558]
[ENSMUST00000102559]
|
| AlphaFold |
Q9JM52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072237
AA Change: V753F
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: V753F
| 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: V753F
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: V753F
| 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 benign
Transcript: ENSMUST00000079244
AA Change: V750F
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: V750F
| 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: ENSMUST00000102558
AA Change: V716F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: V716F
| 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 benign
Transcript: ENSMUST00000102559
AA Change: V716F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: V716F
| 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: V606F
|
| SMART Domains |
Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: V606F
| 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: ENSMUST00000133310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153503
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149845
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation