Incidental Mutation 'R9735:Mark3'
ID 731645
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R9735 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 111540957-111622655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111621882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 675 (F675L)
Ref Sequence ENSEMBL: ENSMUSP00000074757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075281] [ENSMUST00000084953] [ENSMUST00000221459] [ENSMUST00000221753]
AlphaFold Q03141
Predicted Effect probably benign
Transcript: ENSMUST00000075281
AA Change: F675L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074757
Gene: ENSMUSG00000007411
AA Change: F675L

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: F690L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082017
Gene: ENSMUSG00000007411
AA Change: F690L

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 probably benign
Transcript: ENSMUST00000221459
AA Change: F699L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221753
AA Change: F743L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.1%
  • 20x: 98.2%
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 T C 8: 89,037,262 (GRCm39) V215A probably benign Het
Arhgef12 G A 9: 42,882,399 (GRCm39) R1482* probably null Het
Atp9b A T 18: 80,838,629 (GRCm39) D428E Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cd6 A G 19: 10,775,235 (GRCm39) S296P probably benign Het
Cpt1a A G 19: 3,420,825 (GRCm39) R428G probably benign Het
Csmd2 A C 4: 128,402,901 (GRCm39) T2330P Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dcaf4 T A 12: 83,572,939 (GRCm39) I18N probably benign Het
Ern1 A T 11: 106,312,708 (GRCm39) Y224* probably null Het
Ero1a T A 14: 45,533,435 (GRCm39) S224C possibly damaging Het
Fcgbpl1 T A 7: 27,856,435 (GRCm39) V2074E probably damaging Het
Flg2 A G 3: 93,127,669 (GRCm39) S2194G unknown Het
Fnip1 A T 11: 54,394,273 (GRCm39) D903V probably damaging Het
Lss G T 10: 76,382,615 (GRCm39) A497S probably benign Het
Mylk T C 16: 34,735,179 (GRCm39) F720L probably benign Het
Nup210 A C 6: 91,030,630 (GRCm39) S884A probably benign Het
Or2j6 T A 7: 139,980,378 (GRCm39) M194L probably benign Het
Or4p20 A T 2: 88,253,501 (GRCm39) N289K probably damaging Het
Osbpl5 C T 7: 143,248,673 (GRCm39) V630I possibly damaging Het
Pkd1l2 A G 8: 117,772,820 (GRCm39) I1069T possibly damaging Het
Rnaseh2a C T 8: 85,686,661 (GRCm39) V163M probably damaging Het
Septin9 T A 11: 117,245,680 (GRCm39) V434E probably damaging Het
Slc36a3 A T 11: 55,026,104 (GRCm39) I238N probably damaging Het
Spin1 T A 13: 51,293,521 (GRCm39) L77Q probably damaging Het
Spint1 A G 2: 119,076,897 (GRCm39) D327G probably damaging Het
Tmub2 A G 11: 102,178,352 (GRCm39) D123G Het
Vps13a A T 19: 16,701,111 (GRCm39) L686Q probably damaging Het
Zfp51 C A 17: 21,685,413 (GRCm39) S676* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGTGTCTTCAGAGCAGAAGG -3'
(R):5'- TCCATCAGTGCTCTGGAAAAC -3'

Sequencing Primer
(F):5'- TGTGTCTTCAGAGCAGAAGGATGAG -3'
(R):5'- GTGCTCTGGAAAACACCTTAAATTGC -3'
Posted On 2022-11-14