Incidental Mutation 'R1532:Mink1'
ID 166678
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 039571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1532 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70453707-70505309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70492833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 153 (D153G)
Ref Sequence ENSEMBL: ENSMUSP00000099619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102558] [ENSMUST00000102559]
AlphaFold Q9JM52
Predicted Effect probably null
Transcript: ENSMUST00000072237
AA Change: D153G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: D153G

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 probably null
Transcript: ENSMUST00000072873
AA Change: D153G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: D153G

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 probably null
Transcript: ENSMUST00000079244
AA Change: D153G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: D153G

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 probably null
Transcript: ENSMUST00000102558
AA Change: D153G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: D153G

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 probably null
Transcript: ENSMUST00000102559
AA Change: D153G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: D153G

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: ENSMUST00000133310
Predicted Effect probably null
Transcript: ENSMUST00000136663
AA Change: D6G
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: D6G

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: ENSMUST00000153503
Predicted Effect probably benign
Transcript: ENSMUST00000178764
Predicted Effect probably benign
Transcript: ENSMUST00000149845
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C A 4: 86,166,302 (GRCm39) H394N probably benign Het
Ahrr A G 13: 74,361,826 (GRCm39) S558P probably benign Het
Ankrd26 T C 6: 118,499,919 (GRCm39) N1184S probably damaging Het
Anpep A T 7: 79,476,696 (GRCm39) C14* probably null Het
Arhgap18 A G 10: 26,736,718 (GRCm39) D187G possibly damaging Het
Arhgef5 A G 6: 43,250,337 (GRCm39) T363A probably benign Het
Atxn1 A T 13: 45,720,386 (GRCm39) L503Q possibly damaging Het
Babam1 A G 8: 71,852,277 (GRCm39) D155G possibly damaging Het
Bbs9 A G 9: 22,798,945 (GRCm39) T858A probably benign Het
Cacna1g C A 11: 94,334,157 (GRCm39) G828V probably damaging Het
Ccar2 T C 14: 70,380,405 (GRCm39) T392A probably benign Het
Cd163 T C 6: 124,289,689 (GRCm39) V469A possibly damaging Het
Cdh23 G T 10: 60,150,110 (GRCm39) N2576K probably damaging Het
Coro2b A G 9: 62,396,705 (GRCm39) Y18H probably damaging Het
Crispld2 G T 8: 120,750,311 (GRCm39) K238N probably benign Het
Ctnnd2 T C 15: 30,922,014 (GRCm39) I880T probably damaging Het
Cubn C A 2: 13,292,472 (GRCm39) C3237F probably damaging Het
Ddx31 A G 2: 28,771,171 (GRCm39) M519V probably benign Het
Dhx32 A T 7: 133,350,753 (GRCm39) C106S possibly damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnaaf1 T C 8: 120,304,162 (GRCm39) F67L probably benign Het
Duox1 T G 2: 122,175,204 (GRCm39) L1334R probably damaging Het
Dync1li2 A T 8: 105,152,667 (GRCm39) I322N probably damaging Het
Eml6 T C 11: 29,742,256 (GRCm39) probably null Het
Entpd6 A G 2: 150,600,670 (GRCm39) Q126R probably benign Het
Entpd7 C G 19: 43,679,516 (GRCm39) P23R possibly damaging Het
Epha3 T C 16: 63,366,541 (GRCm39) I970V probably benign Het
Fras1 A T 5: 96,861,855 (GRCm39) H2163L probably damaging Het
Gse1 C G 8: 121,294,949 (GRCm39) probably benign Het
Heatr5a A G 12: 51,999,301 (GRCm39) V300A probably damaging Het
Hsd3b1 T A 3: 98,760,214 (GRCm39) D259V probably damaging Het
Hspbap1 T C 16: 35,645,673 (GRCm39) S453P probably damaging Het
Ifnl3 A G 7: 28,223,652 (GRCm39) T163A probably benign Het
Igbp1b T A 6: 138,635,442 (GRCm39) M1L possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lpxn T C 19: 12,781,456 (GRCm39) probably null Het
Mast1 G A 8: 85,655,238 (GRCm39) Q249* probably null Het
Mllt10 G A 2: 18,097,646 (GRCm39) probably null Het
Mpl C T 4: 118,305,765 (GRCm39) G420E possibly damaging Het
Ms4a1 T A 19: 11,230,557 (GRCm39) T215S probably benign Het
Ncapd3 C T 9: 26,994,656 (GRCm39) Q1179* probably null Het
Nr3c2 A G 8: 77,635,733 (GRCm39) H278R probably damaging Het
Or10v5 T C 19: 11,805,983 (GRCm39) I136V probably benign Het
Or52e18 T C 7: 104,609,472 (GRCm39) I156V probably benign Het
Or5b102 A G 19: 13,041,639 (GRCm39) Y288C probably damaging Het
Os9 C T 10: 126,934,771 (GRCm39) V353M probably damaging Het
Osbpl5 A T 7: 143,248,817 (GRCm39) M589K probably benign Het
Phf20 G T 2: 156,144,969 (GRCm39) G859V possibly damaging Het
Pkhd1 G A 1: 20,187,625 (GRCm39) T3561I probably benign Het
Prss46 G A 9: 110,679,236 (GRCm39) V146I probably benign Het
Ptprk G A 10: 28,461,626 (GRCm39) V1139M probably damaging Het
Ranbp10 A G 8: 106,500,963 (GRCm39) L396P probably benign Het
Rb1cc1 A G 1: 6,319,958 (GRCm39) T1126A probably benign Het
Rbl2 G A 8: 91,833,045 (GRCm39) A659T probably benign Het
Rdm1 T C 11: 101,524,643 (GRCm39) L192P probably damaging Het
Reln A C 5: 22,239,742 (GRCm39) W842G probably damaging Het
Scn5a C T 9: 119,362,913 (GRCm39) R569H probably damaging Het
Sele A G 1: 163,881,420 (GRCm39) K509R probably benign Het
Slc15a1 A T 14: 121,713,396 (GRCm39) I377N possibly damaging Het
Slc17a3 G A 13: 24,040,483 (GRCm39) G269D probably damaging Het
Slc35a5 T C 16: 44,971,920 (GRCm39) T115A probably benign Het
Slc5a12 T G 2: 110,440,483 (GRCm39) N157K possibly damaging Het
Sphkap A G 1: 83,234,924 (GRCm39) V1634A probably damaging Het
Spta1 T C 1: 174,074,919 (GRCm39) S2382P probably damaging Het
Synj2 C A 17: 6,084,194 (GRCm39) S1100R probably benign Het
Tcf23 A G 5: 31,130,901 (GRCm39) T180A probably benign Het
Tnxb T C 17: 34,929,804 (GRCm39) V2846A probably damaging Het
Tpr T A 1: 150,293,751 (GRCm39) I915K probably damaging Het
Uba1y C T Y: 828,862 (GRCm39) H557Y probably benign Het
Unc45b T A 11: 82,827,700 (GRCm39) D730E probably benign Het
Unc5b A T 10: 60,605,011 (GRCm39) L734Q probably damaging Het
Vmn1r167 G T 7: 23,204,204 (GRCm39) H271N probably benign Het
Vmn2r76 A G 7: 85,879,454 (GRCm39) V282A probably benign Het
Xirp2 A G 2: 67,344,283 (GRCm39) K2175E probably benign Het
Other mutations in Mink1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACTCTGCCTGTACTCAGGCTGTG -3'
(R):5'- TCAGGATTTTCAGCAGGAGGCAAG -3'

Sequencing Primer
(F):5'- ACTCAGGCTGTGGGTGG -3'
(R):5'- CAAGACTCTCAGGGTGGGTG -3'
Posted On 2014-04-13