Incidental Mutation 'R5811:Mark4'
ID 447515
Institutional Source Beutler Lab
Gene Symbol Mark4
Ensembl Gene ENSMUSG00000030397
Gene Name MAP/microtubule affinity regulating kinase 4
Synonyms 2410090P21Rik, Markl1
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 19158700-19192746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19182564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000082862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085715] [ENSMUST00000209058]
AlphaFold Q8CIP4
Predicted Effect probably damaging
Transcript: ENSMUST00000085715
AA Change: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: D91G

DomainStartEndE-ValueType
S_TKc 59 310 1.4e-109 SMART
UBA 331 368 9.62e-8 SMART
low complexity region 391 408 N/A INTRINSIC
low complexity region 463 474 N/A INTRINSIC
low complexity region 540 553 N/A INTRINSIC
low complexity region 580 586 N/A INTRINSIC
low complexity region 672 690 N/A INTRINSIC
Pfam:KA1 709 752 1.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209011
Predicted Effect probably benign
Transcript: ENSMUST00000209058
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit insulin hypersensitivity and resistance to diet-induced obersity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Mark4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Mark4 APN 7 19,165,749 (GRCm39) missense possibly damaging 0.50
IGL02321:Mark4 APN 7 19,160,314 (GRCm39) missense probably benign
IGL02813:Mark4 APN 7 19,181,181 (GRCm39) splice site probably null
IGL03088:Mark4 APN 7 19,185,509 (GRCm39) missense probably damaging 1.00
breakfast UTSW 7 19,177,151 (GRCm39) missense probably damaging 1.00
R3828_Mark4_841 UTSW 7 19,177,112 (GRCm39) missense possibly damaging 0.65
Towncar UTSW 7 19,181,168 (GRCm39) missense possibly damaging 0.95
R0555:Mark4 UTSW 7 19,182,598 (GRCm39) splice site probably benign
R1278:Mark4 UTSW 7 19,165,695 (GRCm39) missense probably damaging 0.99
R1385:Mark4 UTSW 7 19,159,952 (GRCm39) splice site probably null
R3415:Mark4 UTSW 7 19,185,650 (GRCm39) missense probably benign 0.00
R3828:Mark4 UTSW 7 19,177,112 (GRCm39) missense possibly damaging 0.65
R4281:Mark4 UTSW 7 19,167,371 (GRCm39) missense probably benign 0.09
R4682:Mark4 UTSW 7 19,179,097 (GRCm39) splice site probably null
R4791:Mark4 UTSW 7 19,185,582 (GRCm39) missense probably benign 0.19
R5184:Mark4 UTSW 7 19,181,168 (GRCm39) missense possibly damaging 0.95
R5319:Mark4 UTSW 7 19,170,886 (GRCm39) missense possibly damaging 0.95
R5330:Mark4 UTSW 7 19,170,908 (GRCm39) missense probably damaging 1.00
R5488:Mark4 UTSW 7 19,163,532 (GRCm39) splice site probably null
R6058:Mark4 UTSW 7 19,160,310 (GRCm39) missense probably benign 0.10
R6148:Mark4 UTSW 7 19,163,441 (GRCm39) missense probably benign 0.00
R6333:Mark4 UTSW 7 19,177,208 (GRCm39) missense probably damaging 0.98
R6698:Mark4 UTSW 7 19,163,362 (GRCm39) missense probably benign 0.01
R7265:Mark4 UTSW 7 19,185,650 (GRCm39) missense probably benign 0.00
R7429:Mark4 UTSW 7 19,160,092 (GRCm39) missense probably damaging 0.99
R7664:Mark4 UTSW 7 19,177,151 (GRCm39) missense probably damaging 1.00
R8027:Mark4 UTSW 7 19,181,164 (GRCm39) missense possibly damaging 0.71
R9321:Mark4 UTSW 7 19,170,901 (GRCm39) missense probably benign 0.11
R9610:Mark4 UTSW 7 19,167,338 (GRCm39) missense possibly damaging 0.46
R9611:Mark4 UTSW 7 19,167,338 (GRCm39) missense possibly damaging 0.46
R9649:Mark4 UTSW 7 19,160,015 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- CTTCTCTGAACAGCTGGGCAAG -3'
(R):5'- CACCACACCTGGGATAAGATTC -3'

Sequencing Primer
(F):5'- CAAGGCCAGGAAGGAAGAGC -3'
(R):5'- TGTAGACCAGGCTAGTCTCTGAC -3'
Posted On 2016-12-15