Incidental Mutation 'R6523:Mark3'
ID 521538
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 044649-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R6523 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 111540957-111622655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111593669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 234 (V234I)
Ref Sequence ENSEMBL: ENSMUSP00000152727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075281] [ENSMUST00000084953] [ENSMUST00000221448] [ENSMUST00000221459] [ENSMUST00000221753] [ENSMUST00000222870]
AlphaFold Q03141
Predicted Effect possibly damaging
Transcript: ENSMUST00000075281
AA Change: V234I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074757
Gene: ENSMUSG00000007411
AA Change: V234I

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 possibly damaging
Transcript: ENSMUST00000084953
AA Change: V234I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082017
Gene: ENSMUSG00000007411
AA Change: V234I

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 noncoding transcript
Transcript: ENSMUST00000221009
Predicted Effect probably benign
Transcript: ENSMUST00000221448
Predicted Effect possibly damaging
Transcript: ENSMUST00000221459
AA Change: V234I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000221753
AA Change: V234I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000222870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221923
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,160,120 (GRCm39) probably null Het
Alg2 A T 4: 47,472,071 (GRCm39) S246T possibly damaging Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Arid4a A G 12: 71,114,115 (GRCm39) probably null Het
AU040320 G A 4: 126,762,553 (GRCm39) probably null Het
B430306N03Rik A G 17: 48,626,193 (GRCm39) T129A possibly damaging Het
Blvrb C A 7: 27,165,142 (GRCm39) probably null Het
Ccdc175 T C 12: 72,191,565 (GRCm39) N337S probably benign Het
Ccdc28b A C 4: 129,514,780 (GRCm39) F110V probably damaging Het
Cd200 A G 16: 45,220,633 (GRCm39) Y16H probably benign Het
Cfh T G 1: 140,029,445 (GRCm39) E950A possibly damaging Het
Clec3a A T 8: 115,152,345 (GRCm39) Y117F probably damaging Het
CN725425 A G 15: 91,115,784 (GRCm39) S9G probably benign Het
Coasy T A 11: 100,976,944 (GRCm39) W535R probably damaging Het
Cox4i1 T A 8: 121,399,480 (GRCm39) S30R probably benign Het
Csnk1a1 G A 18: 61,688,829 (GRCm39) S3N probably benign Het
Dcst2 C G 3: 89,280,808 (GRCm39) L669V probably benign Het
Dnah14 A G 1: 181,471,186 (GRCm39) I1346V probably benign Het
Fbxw24 G A 9: 109,434,048 (GRCm39) R421* probably null Het
Fstl5 G A 3: 76,443,641 (GRCm39) V329I probably benign Het
Gli3 T C 13: 15,888,235 (GRCm39) probably null Het
Gna11 A T 10: 81,380,688 (GRCm39) I25N probably damaging Het
Greb1 C T 12: 16,734,374 (GRCm39) V1539I possibly damaging Het
Hipk3 T A 2: 104,269,753 (GRCm39) T479S possibly damaging Het
Hspa1b A G 17: 35,176,167 (GRCm39) I606T probably benign Het
Idnk T A 13: 58,311,457 (GRCm39) F141L probably damaging Het
Ifit3 A G 19: 34,565,555 (GRCm39) N367S probably benign Het
Kcnn1 A T 8: 71,299,169 (GRCm39) D448E possibly damaging Het
Krt14 T C 11: 100,095,923 (GRCm39) T212A possibly damaging Het
Ldlr G A 9: 21,648,549 (GRCm39) C285Y probably damaging Het
Meikin T A 11: 54,289,327 (GRCm39) Y233* probably null Het
Mtcl2 G A 2: 156,902,263 (GRCm39) Q251* probably null Het
Muc20 T C 16: 32,613,820 (GRCm39) D519G possibly damaging Het
Nalcn T A 14: 123,555,255 (GRCm39) H876L probably benign Het
Ncaph A T 2: 126,947,809 (GRCm39) I698K probably damaging Het
Nipal1 A T 5: 72,824,951 (GRCm39) I215F probably damaging Het
Nrde2 A T 12: 100,100,664 (GRCm39) D607E possibly damaging Het
Nt5dc2 T C 14: 30,857,662 (GRCm39) F217S probably damaging Het
Ntsr2 T A 12: 16,706,697 (GRCm39) S156T probably benign Het
Or13c9 A T 4: 52,935,500 (GRCm39) I261N probably damaging Het
Or5b110-ps1 A C 19: 13,259,728 (GRCm39) D231E probably benign Het
Or5p4 A C 7: 107,680,762 (GRCm39) T254P probably benign Het
Pfas A T 11: 68,881,283 (GRCm39) I1028K probably benign Het
Pnpla5 C A 15: 83,999,912 (GRCm39) R329L possibly damaging Het
Pramel30 T C 4: 144,058,218 (GRCm39) V275A probably benign Het
Rhot2 A G 17: 26,058,394 (GRCm39) V393A possibly damaging Het
Rigi T A 4: 40,205,947 (GRCm39) T882S probably benign Het
Rnase9 T A 14: 51,276,684 (GRCm39) Y98F possibly damaging Het
Sacs C A 14: 61,440,410 (GRCm39) L819I probably damaging Het
Sall3 C T 18: 81,016,403 (GRCm39) M508I possibly damaging Het
Scube3 G A 17: 28,381,362 (GRCm39) C301Y probably damaging Het
Sgo2b G T 8: 64,380,538 (GRCm39) H765N probably benign Het
Sh3gl1 A T 17: 56,324,617 (GRCm39) Y344N possibly damaging Het
Slc15a2 A G 16: 36,572,683 (GRCm39) V635A probably benign Het
Slc1a4 T A 11: 20,282,114 (GRCm39) Y40F probably damaging Het
Slc4a10 A T 2: 62,117,305 (GRCm39) K755* probably null Het
Slco1a5 C T 6: 142,212,121 (GRCm39) G38R probably damaging Het
Snx25 T A 8: 46,508,892 (GRCm39) D564V probably damaging Het
Spon1 T A 7: 113,486,018 (GRCm39) D189E probably benign Het
Sptbn5 T C 2: 119,896,095 (GRCm39) probably null Het
Ssbp2 A G 13: 91,841,170 (GRCm39) I317V probably benign Het
Stil AAGATTTCCAG A 4: 114,889,911 (GRCm39) probably null Het
Strn3 A T 12: 51,689,881 (GRCm39) probably null Het
Tcaf2 A T 6: 42,619,953 (GRCm39) F25I probably benign Het
Themis C T 10: 28,657,894 (GRCm39) T154I possibly damaging Het
Ttn T C 2: 76,626,390 (GRCm39) R13176G probably damaging Het
Utp4 G A 8: 107,625,095 (GRCm39) V125M probably damaging Het
Vmn1r119 T A 7: 20,745,777 (GRCm39) M202L possibly damaging Het
Zfp292 G C 4: 34,816,301 (GRCm39) F329L probably benign Het
Zfp541 C T 7: 15,829,445 (GRCm39) P1281L probably damaging Het
Zfp616 A T 11: 73,973,968 (GRCm39) Q79L possibly 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
R1569:Mark3 UTSW 12 111,600,180 (GRCm39) missense probably benign 0.01
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
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'- TGGAGAGTTCTCTTTCCCAAGG -3'
(R):5'- CCTTTGGGGAAGTAGGAACC -3'

Sequencing Primer
(F):5'- GAGAGTTCTCTTTCCCAAGGAATACC -3'
(R):5'- GGAACCAAACAAGAGTTCATTTTTAG -3'
Posted On 2018-06-06