Incidental Mutation 'R4847:Mink1'
ID 373319
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 042460-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4847 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70453707-70505309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70492854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 160 (L160Q)
Ref Sequence ENSEMBL: ENSMUSP00000099619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102558] [ENSMUST00000102559]
AlphaFold Q9JM52
Predicted Effect probably damaging
Transcript: ENSMUST00000072237
AA Change: L160Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: L160Q

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 damaging
Transcript: ENSMUST00000072873
AA Change: L160Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: L160Q

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 damaging
Transcript: ENSMUST00000079244
AA Change: L160Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: L160Q

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 damaging
Transcript: ENSMUST00000102558
AA Change: L160Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: L160Q

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 damaging
Transcript: ENSMUST00000102559
AA Change: L160Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: L160Q

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 unknown
Transcript: ENSMUST00000136663
AA Change: L13Q
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: L13Q

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: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik C T 11: 80,264,940 (GRCm39) V171M probably damaging Het
Abhd3 A G 18: 10,647,786 (GRCm39) S328P possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aldh1b1 G T 4: 45,802,625 (GRCm39) K54N possibly damaging Het
Amacr C T 15: 10,994,958 (GRCm39) Q257* probably null Het
Ankrd12 A T 17: 66,331,087 (GRCm39) D309E probably benign Het
Anks6 T C 4: 47,033,266 (GRCm39) T600A probably benign Het
Ap3b1 A G 13: 94,608,287 (GRCm39) E586G probably benign Het
Atad2b A G 12: 4,994,901 (GRCm39) probably null Het
Cant1 G A 11: 118,300,936 (GRCm39) Q240* probably null Het
Cep152 T C 2: 125,460,394 (GRCm39) Y186C possibly damaging Het
Cep76 C A 18: 67,752,639 (GRCm39) R603I probably benign Het
Chad T C 11: 94,459,153 (GRCm39) S352P probably benign Het
Ckap2 T C 8: 22,665,084 (GRCm39) E460G probably damaging Het
Col22a1 T C 15: 71,671,348 (GRCm39) Y1004C unknown Het
Col9a3 G A 2: 180,257,318 (GRCm39) G480S probably damaging Het
Cpsf2 A G 12: 101,963,561 (GRCm39) D430G probably benign Het
Cramp1 T C 17: 25,204,063 (GRCm39) D305G probably damaging Het
Ctnnd1 C A 2: 84,452,396 (GRCm39) E76* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c39 A T 19: 39,549,340 (GRCm39) N286I probably damaging Het
Ddx11 A G 17: 66,437,796 (GRCm39) E174G probably damaging Het
Ddx19a T C 8: 111,703,677 (GRCm39) E369G probably damaging Het
Dnai7 T A 6: 145,120,911 (GRCm39) H636L probably damaging Het
Epha1 T A 6: 42,338,848 (GRCm39) D687V possibly damaging Het
Fgr T C 4: 132,721,959 (GRCm39) W132R probably damaging Het
Fras1 A T 5: 96,692,851 (GRCm39) D170V possibly damaging Het
Gas2l1 A G 11: 5,014,173 (GRCm39) S96P probably damaging Het
Gfy G A 7: 44,827,020 (GRCm39) P359S probably damaging Het
Hexim2 A G 11: 103,029,767 (GRCm39) N273S probably benign Het
Hr A T 14: 70,793,916 (GRCm39) T59S probably benign Het
Ift70a2 A T 2: 75,808,058 (GRCm39) N151K probably benign Het
Impdh2 A G 9: 108,441,870 (GRCm39) Y166C probably damaging Het
Impdh2 T A 9: 108,442,714 (GRCm39) F514Y probably benign Het
Iqgap2 A G 13: 95,810,251 (GRCm39) F731S probably benign Het
Klhl17 A T 4: 156,316,054 (GRCm39) H433Q probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kntc1 A C 5: 123,940,337 (GRCm39) N1645T probably benign Het
Mcm8 A G 2: 132,661,923 (GRCm39) I114V probably benign Het
Mipol1 A T 12: 57,350,282 (GRCm39) S27C probably damaging Het
Mthfr T C 4: 148,132,596 (GRCm39) V217A probably damaging Het
Or5b105 A G 19: 13,079,898 (GRCm39) Y257H probably damaging Het
Or5p53 T A 7: 107,533,034 (GRCm39) C102* probably null Het
Pde1c T C 6: 56,100,019 (GRCm39) K614E possibly damaging Het
Pds5b A T 5: 150,671,577 (GRCm39) E407V probably damaging Het
Pdzph1 A G 17: 59,280,525 (GRCm39) S586P possibly damaging Het
Prkcb C T 7: 122,167,372 (GRCm39) R361W probably benign Het
Psen2 T A 1: 180,073,197 (GRCm39) probably null Het
Ptk2 T A 15: 73,103,805 (GRCm39) M82L probably benign Het
Ptk2b T C 14: 66,411,331 (GRCm39) D400G probably damaging Het
Samd8 G A 14: 21,842,503 (GRCm39) R275Q possibly damaging Het
Senp2 A G 16: 21,857,386 (GRCm39) T403A possibly damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Skap2 T A 6: 51,980,649 (GRCm39) I52L probably benign Het
Slc5a7 T C 17: 54,584,168 (GRCm39) D374G possibly damaging Het
Slmap A T 14: 26,147,763 (GRCm39) L699M possibly damaging Het
Sntg1 A C 1: 8,665,706 (GRCm39) C203G possibly damaging Het
Stard9 T C 2: 120,533,594 (GRCm39) S3284P probably benign Het
Tbx21 T C 11: 97,005,857 (GRCm39) Y36C probably damaging Het
Tecpr2 A G 12: 110,906,311 (GRCm39) Y971C probably damaging Het
Trpm5 T A 7: 142,641,500 (GRCm39) I137F possibly damaging Het
Unk A G 11: 115,945,232 (GRCm39) K426E probably damaging Het
Zc3hc1 T C 6: 30,375,981 (GRCm39) D193G 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
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
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'- GCAACTCTGCCTGTACTCAG -3'
(R):5'- CAGGATTTTCAGCAGGAGGC -3'

Sequencing Primer
(F):5'- GGTCTGTACCTCAGCTTCAC -3'
(R):5'- CAAGACTCTCAGGGTGGGTG -3'
Posted On 2016-03-01