Incidental Mutation 'R1569:Mark3'
ID 177141
Institutional Source Beutler Lab
Gene Symbol Mark3
Ensembl Gene ENSMUSG00000007411
Gene Name MAP/microtubule affinity regulating kinase 3
Synonyms 1600015G02Rik, C-TAK1, ETK-1, A430080F22Rik
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 111540957-111622655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 111600180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 465 (I465S)
Ref Sequence ENSEMBL: ENSMUSP00000152727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075281] [ENSMUST00000084953] [ENSMUST00000221459] [ENSMUST00000221753]
AlphaFold Q03141
Predicted Effect probably benign
Transcript: ENSMUST00000075281
AA Change: I465S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074757
Gene: ENSMUSG00000007411
AA Change: I465S

DomainStartEndE-ValueType
S_TKc 56 307 7.4e-109 SMART
UBA 328 365 6.91e-9 SMART
low complexity region 368 385 N/A INTRINSIC
low complexity region 406 419 N/A INTRINSIC
Pfam:KA1 683 729 3.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084953
AA Change: I465S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082017
Gene: ENSMUSG00000007411
AA Change: I465S

DomainStartEndE-ValueType
S_TKc 56 307 7.4e-109 SMART
UBA 328 365 6.91e-9 SMART
low complexity region 368 385 N/A INTRINSIC
low complexity region 406 419 N/A INTRINSIC
Pfam:KA1 700 744 4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220971
Predicted Effect probably benign
Transcript: ENSMUST00000221459
AA Change: I465S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221753
AA Change: I465S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222080
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous disruption of this gene results in decreased body weight, increased energy expenditure, reduced adiposity, and protection from high-fat diet induced obesity. On a high-fat diet, mice show resistance to hepatic steatosis, improved glucose tolerance, and decreased insulin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging Het
Other mutations in Mark3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Mark3 APN 12 111,593,956 (GRCm39) missense probably damaging 0.99
IGL02047:Mark3 APN 12 111,584,797 (GRCm39) missense probably damaging 1.00
IGL02345:Mark3 APN 12 111,593,541 (GRCm39) missense probably damaging 0.99
IGL02637:Mark3 APN 12 111,559,090 (GRCm39) missense probably damaging 0.98
IGL03310:Mark3 APN 12 111,614,104 (GRCm39) missense probably benign
IGL03349:Mark3 APN 12 111,594,684 (GRCm39) missense probably benign 0.19
R0377:Mark3 UTSW 12 111,595,463 (GRCm39) missense probably damaging 0.96
R0551:Mark3 UTSW 12 111,600,068 (GRCm39) missense probably benign
R0846:Mark3 UTSW 12 111,593,658 (GRCm39) missense possibly damaging 0.85
R1104:Mark3 UTSW 12 111,584,831 (GRCm39) splice site probably benign
R1305:Mark3 UTSW 12 111,581,880 (GRCm39) critical splice donor site probably null
R1344:Mark3 UTSW 12 111,594,271 (GRCm39) missense possibly damaging 0.94
R1418:Mark3 UTSW 12 111,594,271 (GRCm39) missense possibly damaging 0.94
R1434:Mark3 UTSW 12 111,589,759 (GRCm39) splice site probably benign
R1556:Mark3 UTSW 12 111,594,275 (GRCm39) missense probably damaging 0.98
R1582:Mark3 UTSW 12 111,621,744 (GRCm39) missense probably benign 0.12
R1936:Mark3 UTSW 12 111,584,799 (GRCm39) missense probably damaging 0.99
R1975:Mark3 UTSW 12 111,581,875 (GRCm39) missense probably damaging 1.00
R2507:Mark3 UTSW 12 111,593,676 (GRCm39) missense probably damaging 1.00
R4394:Mark3 UTSW 12 111,570,957 (GRCm39) missense possibly damaging 0.91
R4912:Mark3 UTSW 12 111,559,087 (GRCm39) missense probably benign 0.42
R4926:Mark3 UTSW 12 111,584,758 (GRCm39) nonsense probably null
R5060:Mark3 UTSW 12 111,584,760 (GRCm39) missense probably damaging 0.98
R5133:Mark3 UTSW 12 111,621,762 (GRCm39) missense probably damaging 1.00
R5813:Mark3 UTSW 12 111,621,877 (GRCm39) missense probably damaging 1.00
R5834:Mark3 UTSW 12 111,590,921 (GRCm39) missense probably damaging 0.99
R5926:Mark3 UTSW 12 111,559,168 (GRCm39) missense probably damaging 1.00
R6523:Mark3 UTSW 12 111,593,669 (GRCm39) missense probably damaging 1.00
R6663:Mark3 UTSW 12 111,541,517 (GRCm39) missense probably benign 0.42
R6719:Mark3 UTSW 12 111,581,876 (GRCm39) missense probably damaging 1.00
R6942:Mark3 UTSW 12 111,559,088 (GRCm39) missense probably null 0.02
R6966:Mark3 UTSW 12 111,606,458 (GRCm39) missense probably damaging 0.96
R6978:Mark3 UTSW 12 111,593,582 (GRCm39) missense probably benign
R7303:Mark3 UTSW 12 111,621,970 (GRCm39) missense probably damaging 1.00
R7408:Mark3 UTSW 12 111,600,223 (GRCm39) missense probably damaging 0.99
R7454:Mark3 UTSW 12 111,570,961 (GRCm39) missense probably damaging 1.00
R7680:Mark3 UTSW 12 111,613,207 (GRCm39) missense probably benign 0.01
R8194:Mark3 UTSW 12 111,559,117 (GRCm39) missense probably damaging 1.00
R8243:Mark3 UTSW 12 111,613,956 (GRCm39) missense possibly damaging 0.73
R8385:Mark3 UTSW 12 111,621,808 (GRCm39) missense possibly damaging 0.68
R8788:Mark3 UTSW 12 111,613,124 (GRCm39) missense probably benign 0.00
R9144:Mark3 UTSW 12 111,606,376 (GRCm39) missense probably benign
R9562:Mark3 UTSW 12 111,570,960 (GRCm39) missense probably damaging 0.99
R9565:Mark3 UTSW 12 111,570,960 (GRCm39) missense probably damaging 0.99
R9735:Mark3 UTSW 12 111,621,882 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGATGTGCTCTCCTAAAGCATGGC -3'
(R):5'- ACCCTCCAATGTAGGCAGGGAATG -3'

Sequencing Primer
(F):5'- AAGTTGTTTCCAAAGACCGCTC -3'
(R):5'- AATGGATGGATGCAAAGATAtagc -3'
Posted On 2014-04-24