Incidental Mutation 'R6058:Mink1'
ID 483068
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 044224-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 70453707-70505309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70502546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1086 (T1086A)
Ref Sequence ENSEMBL: ENSMUSP00000072091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014753] [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102556] [ENSMUST00000102558] [ENSMUST00000102559] [ENSMUST00000180052] [ENSMUST00000135865] [ENSMUST00000144960]
AlphaFold Q9JM52
Predicted Effect probably benign
Transcript: ENSMUST00000014753
SMART Domains Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 2.9e-65 PFAM
Pfam:Neur_chan_memb 247 475 6.5e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000072237
AA Change: T1086A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: T1086A

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 benign
Transcript: ENSMUST00000072873
AA Change: T1079A

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: T1079A

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 benign
Transcript: ENSMUST00000079244
AA Change: T1076A

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: T1076A

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 benign
Transcript: ENSMUST00000102556
SMART Domains Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 240 5.4e-65 PFAM
Pfam:Neur_chan_memb 247 474 2.9e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102558
AA Change: T1042A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: T1042A

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: T1050A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: T1050A

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 unknown
Transcript: ENSMUST00000136663
AA Change: T939A
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: T939A

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 noncoding transcript
Transcript: ENSMUST00000132208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134836
Predicted Effect probably benign
Transcript: ENSMUST00000180052
SMART Domains Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135865
SMART Domains Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 101 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144960
SMART Domains Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149845
Predicted Effect probably benign
Transcript: ENSMUST00000178764
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adamts20 G A 15: 94,227,928 (GRCm39) R1040* probably null Het
Akt1 A G 12: 112,628,634 (GRCm39) L52P probably damaging Het
Alk T A 17: 72,176,742 (GRCm39) T1521S probably benign Het
Armt1 A G 10: 4,403,488 (GRCm39) N191S probably damaging Het
Ascl1 T G 10: 87,328,562 (GRCm39) N130T probably damaging Het
Bahcc1 T G 11: 120,178,211 (GRCm39) S2257A probably damaging Het
Cd86 T C 16: 36,449,377 (GRCm39) M7V possibly damaging Het
Cep57 A T 9: 13,722,057 (GRCm39) S304R possibly damaging Het
Cep57l1 A T 10: 41,616,918 (GRCm39) I123N possibly damaging Het
Cers6 A G 2: 68,692,008 (GRCm39) N10S probably benign Het
Chrng A G 1: 87,139,074 (GRCm39) D475G probably damaging Het
Crabp1 T A 9: 54,680,129 (GRCm39) V128E probably damaging Het
Csnk2a1-ps3 T C 1: 156,352,425 (GRCm39) Y209H probably damaging Het
Dcdc2a T C 13: 25,240,354 (GRCm39) V34A possibly damaging Het
Eeig1 G A 2: 32,450,102 (GRCm39) V117I probably benign Het
Fbn1 A G 2: 125,308,532 (GRCm39) C177R possibly damaging Het
Fras1 A G 5: 96,857,844 (GRCm39) D2046G probably benign Het
Glul T C 1: 153,783,087 (GRCm39) I220T probably benign Het
Gpc6 C T 14: 118,202,182 (GRCm39) T464M probably damaging Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
H2-K2 G T 17: 34,218,304 (GRCm39) T204K probably benign Het
H2-K2 T C 17: 34,218,305 (GRCm39) T204A probably benign Het
Hecw2 T C 1: 53,963,135 (GRCm39) H792R possibly damaging Het
Herc4 T A 10: 63,110,821 (GRCm39) I244K possibly damaging Het
Hsd11b2 G T 8: 106,249,966 (GRCm39) R359L possibly damaging Het
Igsf9 G A 1: 172,312,456 (GRCm39) E56K probably damaging Het
Il9 T C 13: 56,628,495 (GRCm39) T65A possibly damaging Het
Kcnip1 T C 11: 33,592,478 (GRCm39) T102A probably damaging Het
L3mbtl2 T C 15: 81,551,555 (GRCm39) S74P probably benign Het
Lamc2 C T 1: 153,012,575 (GRCm39) D700N probably benign Het
Ldb2 T C 5: 44,633,905 (GRCm39) T322A possibly damaging Het
Lix1 A T 17: 17,664,012 (GRCm39) I117F probably damaging Het
Map2 T A 1: 66,454,573 (GRCm39) D1154E probably benign Het
Marco A T 1: 120,404,435 (GRCm39) I425N probably damaging Het
Mark4 T C 7: 19,160,310 (GRCm39) E650G probably benign Het
Nxf1 G A 19: 8,745,186 (GRCm39) V479M probably damaging Het
Or10v1 T A 19: 11,873,388 (GRCm39) M1K probably null Het
Or11g2 T C 14: 50,856,158 (GRCm39) F160L probably benign Het
Or2n1e A G 17: 38,586,150 (GRCm39) T163A probably damaging Het
Or5h23 T C 16: 58,906,273 (GRCm39) D191G probably damaging Het
Or5h23 A G 16: 58,906,792 (GRCm39) V18A probably benign Het
Or6c5 T C 10: 129,074,329 (GRCm39) S104P probably damaging Het
Otx2 T C 14: 48,896,215 (GRCm39) D281G probably damaging Het
Pcdhga3 A T 18: 37,808,141 (GRCm39) D198V probably damaging Het
Ppp1r13l T C 7: 19,104,500 (GRCm39) V273A probably benign Het
Ppp6r2 T C 15: 89,137,455 (GRCm39) probably null Het
Pramel51 T A 12: 88,143,995 (GRCm39) I273F possibly damaging Het
Prg4 C T 1: 150,327,197 (GRCm39) G873D probably damaging Het
Ptprq T C 10: 107,471,135 (GRCm39) N1422S probably benign Het
Rbm27 A T 18: 42,460,570 (GRCm39) K839M probably damaging Het
Rere A T 4: 150,553,255 (GRCm39) N149I probably damaging Het
Ret A G 6: 118,156,280 (GRCm39) L340S probably benign Het
Sel1l2 T A 2: 140,082,889 (GRCm39) D583V possibly damaging Het
Shroom1 A T 11: 53,354,308 (GRCm39) D76V possibly damaging Het
Slc5a3 C A 16: 91,875,963 (GRCm39) S673R probably benign Het
Spink1 A T 18: 43,861,247 (GRCm39) I74N probably damaging Het
Tbc1d1 T A 5: 64,435,352 (GRCm39) S497T probably damaging Het
Trim3 C T 7: 105,260,278 (GRCm39) R741Q probably damaging Het
Ttn A G 2: 76,747,022 (GRCm39) C4676R probably benign Het
Ubqlnl G A 7: 103,797,959 (GRCm39) P513S probably benign Het
Unc13d C T 11: 115,964,394 (GRCm39) probably null Het
Vmn1r125 TGG TG 7: 21,006,144 (GRCm39) probably null Het
Vmn2r7 A T 3: 64,632,436 (GRCm39) C9S probably benign Het
Xdh T A 17: 74,213,264 (GRCm39) M829L probably damaging Het
Zcrb1 A G 15: 93,285,463 (GRCm39) F173L probably benign Het
Zfp41 T C 15: 75,490,372 (GRCm39) V108A probably damaging Het
Zfp438 T C 18: 5,213,209 (GRCm39) E583G probably damaging Het
Zfp628 T C 7: 4,923,917 (GRCm39) L713P probably damaging Het
Zfp664 T A 5: 124,963,042 (GRCm39) C145* probably null Het
Zfp683 T C 4: 133,786,042 (GRCm39) C390R probably damaging Het
Zfp941 G A 7: 140,392,010 (GRCm39) P450S probably damaging 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
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
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'- GTAGAGCTTGGATCTGCCTC -3'
(R):5'- TGGACAGACATATGTGGACAC -3'

Sequencing Primer
(F):5'- GGATCTGCCTCTGACCTATCCAAG -3'
(R):5'- ATACACTGTACGCTGTAGCTG -3'
Posted On 2017-07-14