Incidental Mutation 'R3716:Mink1'
ID 259925
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3716 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70562881-70614483 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70607761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 584 (L584Q)
Ref Sequence ENSEMBL: ENSMUSP00000072091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102558] [ENSMUST00000102559]
AlphaFold Q9JM52
Predicted Effect probably damaging
Transcript: ENSMUST00000072237
AA Change: L584Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: L584Q

DomainStartEndE-ValueType
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: L584Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: L584Q

DomainStartEndE-ValueType
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: L581Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: L581Q

DomainStartEndE-ValueType
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: L584Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: L584Q

DomainStartEndE-ValueType
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: L584Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: L584Q

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000133310
Predicted Effect unknown
Transcript: ENSMUST00000136663
AA Change: L437Q
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: L437Q

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000149845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153503
Predicted Effect probably benign
Transcript: ENSMUST00000178764
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 49,019,536 (GRCm38) L690H probably damaging Het
Abtb3 C T 10: 85,561,528 (GRCm38) H442Y probably damaging Het
Acaa1b A G 9: 119,156,641 (GRCm38) V72A probably benign Het
Actl7a T C 4: 56,744,295 (GRCm38) L274P possibly damaging Het
Ankrd50 T C 3: 38,454,150 (GRCm38) E433G probably damaging Het
Ano6 A G 15: 95,913,379 (GRCm38) D120G probably damaging Het
Bbs10 A G 10: 111,301,134 (GRCm38) K703E probably benign Het
Canx A G 11: 50,304,474 (GRCm38) S256P probably benign Het
Caps2 A G 10: 112,200,732 (GRCm38) H399R probably benign Het
Col6a6 A C 9: 105,782,174 (GRCm38) L524R probably damaging Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dglucy A T 12: 100,850,116 (GRCm38) N339I probably damaging Het
Dhrs4 G T 14: 55,478,905 (GRCm38) M1I probably null Het
Disp1 A T 1: 183,087,751 (GRCm38) L1035Q probably damaging Het
Ephb1 T C 9: 102,194,800 (GRCm38) E260G probably damaging Het
Fetub T A 16: 22,935,693 (GRCm38) C217S probably damaging Het
Firrm T C 1: 163,956,888 (GRCm38) I779M probably damaging Het
Frem2 T C 3: 53,572,360 (GRCm38) S1971G probably damaging Het
Gria2 A G 3: 80,741,004 (GRCm38) Y142H possibly damaging Het
Hivep1 C T 13: 42,158,495 (GRCm38) H1404Y probably damaging Het
Il21r A G 7: 125,632,269 (GRCm38) K290E probably damaging Het
Inpp5f C G 7: 128,690,670 (GRCm38) L17V probably damaging Het
Kcnh3 A G 15: 99,232,765 (GRCm38) N421S possibly damaging Het
Krt33a A C 11: 100,014,165 (GRCm38) C172G probably benign Het
Lrp6 A T 6: 134,507,447 (GRCm38) H404Q probably damaging Het
Macf1 T C 4: 123,473,502 (GRCm38) T924A probably benign Het
Mepe C A 5: 104,337,428 (GRCm38) H145N probably benign Het
Mesp2 T G 7: 79,812,794 (GRCm38) L366R possibly damaging Het
Mms19 A G 19: 41,944,735 (GRCm38) V997A probably damaging Het
Mroh7 T C 4: 106,704,210 (GRCm38) E612G probably benign Het
Myo15b G T 11: 115,863,413 (GRCm38) C913F probably benign Het
Nav1 A T 1: 135,450,630 (GRCm38) I1653K probably damaging Het
Neb T C 2: 52,277,470 (GRCm38) E1948G probably damaging Het
Nelfcd T C 2: 174,423,005 (GRCm38) V179A possibly damaging Het
Obscn C T 11: 59,082,661 (GRCm38) C2157Y probably damaging Het
Or8i2 A T 2: 87,022,363 (GRCm38) Y60* probably null Het
Orc1 C T 4: 108,614,459 (GRCm38) A836V probably damaging Het
Pcdhb6 G T 18: 37,336,206 (GRCm38) V43L probably benign Het
Prkcd G T 14: 30,599,712 (GRCm38) D393E probably benign Het
Rb1cc1 G C 1: 6,270,690 (GRCm38) probably null Het
Rp1 T A 1: 4,349,765 (GRCm38) T375S probably benign Het
Slc9c1 A T 16: 45,580,219 (GRCm38) M731L probably benign Het
Sox21 A T 14: 118,235,430 (GRCm38) M69K probably benign Het
Spata18 A T 5: 73,666,850 (GRCm38) probably null Het
Taok1 A G 11: 77,541,810 (GRCm38) F726L probably benign Het
Ttn G A 2: 76,745,214 (GRCm38) P25112S probably damaging Het
Ubac1 C T 2: 26,014,941 (GRCm38) R95H probably damaging Het
Usp32 A G 11: 85,042,563 (GRCm38) Y40H probably damaging Het
Usp37 A T 1: 74,492,986 (GRCm38) S83T possibly damaging Het
Vps13d A G 4: 145,075,726 (GRCm38) I405T probably damaging Het
Other mutations in Mink1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Mink1 APN 11 70,603,812 (GRCm38) missense probably damaging 0.99
IGL00709:Mink1 APN 11 70,613,019 (GRCm38) missense probably damaging 0.99
IGL01064:Mink1 APN 11 70,603,481 (GRCm38) missense probably benign 0.05
IGL02612:Mink1 APN 11 70,597,226 (GRCm38) missense probably damaging 1.00
IGL02797:Mink1 APN 11 70,610,350 (GRCm38) missense probably damaging 1.00
IGL03056:Mink1 APN 11 70,612,583 (GRCm38) critical splice donor site probably null
IGL03066:Mink1 APN 11 70,608,889 (GRCm38) missense probably benign 0.01
IGL03185:Mink1 APN 11 70,603,860 (GRCm38) missense probably damaging 1.00
PIT4498001:Mink1 UTSW 11 70,598,888 (GRCm38) missense probably benign 0.05
R0025:Mink1 UTSW 11 70,613,042 (GRCm38) missense probably damaging 1.00
R0025:Mink1 UTSW 11 70,613,042 (GRCm38) missense probably damaging 1.00
R0488:Mink1 UTSW 11 70,597,204 (GRCm38) missense probably damaging 1.00
R0637:Mink1 UTSW 11 70,601,676 (GRCm38) missense probably damaging 0.96
R0828:Mink1 UTSW 11 70,610,145 (GRCm38) nonsense probably null
R1081:Mink1 UTSW 11 70,607,035 (GRCm38) missense probably benign 0.07
R1175:Mink1 UTSW 11 70,611,340 (GRCm38) missense probably benign 0.02
R1441:Mink1 UTSW 11 70,607,114 (GRCm38) missense possibly damaging 0.72
R1532:Mink1 UTSW 11 70,602,007 (GRCm38) missense probably null 1.00
R1545:Mink1 UTSW 11 70,598,891 (GRCm38) missense possibly damaging 0.60
R1634:Mink1 UTSW 11 70,608,880 (GRCm38) missense probably benign 0.00
R1932:Mink1 UTSW 11 70,608,428 (GRCm38) critical splice donor site probably null
R2033:Mink1 UTSW 11 70,612,508 (GRCm38) missense probably damaging 1.00
R2184:Mink1 UTSW 11 70,603,797 (GRCm38) missense probably damaging 1.00
R2267:Mink1 UTSW 11 70,601,724 (GRCm38) splice site probably null
R2268:Mink1 UTSW 11 70,601,724 (GRCm38) splice site probably null
R2859:Mink1 UTSW 11 70,612,508 (GRCm38) missense probably damaging 1.00
R3713:Mink1 UTSW 11 70,608,950 (GRCm38) missense possibly damaging 0.93
R3714:Mink1 UTSW 11 70,608,950 (GRCm38) missense possibly damaging 0.93
R3715:Mink1 UTSW 11 70,608,950 (GRCm38) missense possibly damaging 0.93
R3717:Mink1 UTSW 11 70,607,761 (GRCm38) missense probably damaging 0.98
R4607:Mink1 UTSW 11 70,606,067 (GRCm38) missense possibly damaging 0.72
R4735:Mink1 UTSW 11 70,609,260 (GRCm38) splice site probably null
R4790:Mink1 UTSW 11 70,599,041 (GRCm38) missense probably damaging 0.99
R4847:Mink1 UTSW 11 70,602,028 (GRCm38) missense probably damaging 1.00
R4860:Mink1 UTSW 11 70,611,592 (GRCm38) missense probably damaging 0.98
R4860:Mink1 UTSW 11 70,611,592 (GRCm38) missense probably damaging 0.98
R5081:Mink1 UTSW 11 70,605,144 (GRCm38) missense probably damaging 0.98
R5310:Mink1 UTSW 11 70,607,343 (GRCm38) missense probably benign 0.33
R5677:Mink1 UTSW 11 70,605,165 (GRCm38) missense possibly damaging 0.66
R5767:Mink1 UTSW 11 70,606,075 (GRCm38) missense possibly damaging 0.53
R5795:Mink1 UTSW 11 70,607,790 (GRCm38) missense possibly damaging 0.86
R5888:Mink1 UTSW 11 70,610,059 (GRCm38) unclassified probably benign
R5950:Mink1 UTSW 11 70,609,586 (GRCm38) missense possibly damaging 0.81
R6024:Mink1 UTSW 11 70,599,089 (GRCm38) missense possibly damaging 0.71
R6034:Mink1 UTSW 11 70,607,040 (GRCm38) small deletion probably benign
R6034:Mink1 UTSW 11 70,607,040 (GRCm38) small deletion probably benign
R6058:Mink1 UTSW 11 70,611,720 (GRCm38) missense possibly damaging 0.96
R6144:Mink1 UTSW 11 70,610,652 (GRCm38) missense possibly damaging 0.66
R6154:Mink1 UTSW 11 70,610,101 (GRCm38) missense possibly damaging 0.46
R6218:Mink1 UTSW 11 70,598,894 (GRCm38) missense possibly damaging 0.94
R6262:Mink1 UTSW 11 70,603,325 (GRCm38) splice site probably null
R6269:Mink1 UTSW 11 70,598,987 (GRCm38) missense probably damaging 1.00
R6273:Mink1 UTSW 11 70,611,435 (GRCm38) nonsense probably null
R6301:Mink1 UTSW 11 70,612,294 (GRCm38) missense possibly damaging 0.71
R6603:Mink1 UTSW 11 70,609,593 (GRCm38) missense probably damaging 0.96
R6876:Mink1 UTSW 11 70,607,435 (GRCm38) missense probably benign 0.02
R7030:Mink1 UTSW 11 70,607,775 (GRCm38) missense possibly damaging 0.46
R7050:Mink1 UTSW 11 70,612,332 (GRCm38) missense possibly damaging 0.93
R7094:Mink1 UTSW 11 70,610,075 (GRCm38) splice site probably null
R7135:Mink1 UTSW 11 70,603,503 (GRCm38) missense probably damaging 1.00
R7238:Mink1 UTSW 11 70,611,479 (GRCm38) critical splice donor site probably null
R7320:Mink1 UTSW 11 70,599,073 (GRCm38) missense probably benign 0.23
R7396:Mink1 UTSW 11 70,605,168 (GRCm38) missense possibly damaging 0.73
R7446:Mink1 UTSW 11 70,609,629 (GRCm38) missense probably benign 0.18
R7723:Mink1 UTSW 11 70,612,910 (GRCm38) missense probably benign 0.16
R7896:Mink1 UTSW 11 70,612,282 (GRCm38) missense possibly damaging 0.71
R8058:Mink1 UTSW 11 70,603,768 (GRCm38) nonsense probably null
R8082:Mink1 UTSW 11 70,613,277 (GRCm38) missense possibly damaging 0.71
R8160:Mink1 UTSW 11 70,606,081 (GRCm38) nonsense probably null
R8335:Mink1 UTSW 11 70,609,575 (GRCm38) missense probably damaging 0.97
R8353:Mink1 UTSW 11 70,610,328 (GRCm38) missense possibly damaging 0.70
R8453:Mink1 UTSW 11 70,610,328 (GRCm38) missense possibly damaging 0.70
R8732:Mink1 UTSW 11 70,610,076 (GRCm38) critical splice acceptor site probably null
R9072:Mink1 UTSW 11 70,608,381 (GRCm38) missense possibly damaging 0.86
R9073:Mink1 UTSW 11 70,608,381 (GRCm38) missense possibly damaging 0.86
R9324:Mink1 UTSW 11 70,611,651 (GRCm38) missense probably damaging 0.98
R9596:Mink1 UTSW 11 70,607,089 (GRCm38) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGGTGTCTTCTGCGCACTAC -3'
(R):5'- ATTATCAGGCCGAACCCAGG -3'

Sequencing Primer
(F):5'- TCTTCTGCGCACTACAGGGC -3'
(R):5'- TCTGAATTCTGGCGGATGAC -3'
Posted On 2015-01-23