Incidental Mutation 'R7265:Mark4'
ID 564869
Institutional Source Beutler Lab
Gene Symbol Mark4
Ensembl Gene ENSMUSG00000030397
Gene Name MAP/microtubule affinity regulating kinase 4
Synonyms 2410090P21Rik, Markl1
MMRRC Submission 045355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7265 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 19158700-19192746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19185650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 28 (D28G)
Ref Sequence ENSEMBL: ENSMUSP00000082862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085715] [ENSMUST00000209058]
AlphaFold Q8CIP4
Predicted Effect probably benign
Transcript: ENSMUST00000085715
AA Change: D28G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: D28G

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 silent
Transcript: ENSMUST00000209058
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb3 A G 11: 30,948,495 (GRCm39) E57G probably benign Het
B3glct A G 5: 149,632,785 (GRCm39) D45G probably benign Het
BC034090 C A 1: 155,101,073 (GRCm39) C397F probably damaging Het
Bicd1 A G 6: 149,415,374 (GRCm39) K696E probably damaging Het
Btnl4 C T 17: 34,694,868 (GRCm39) C15Y probably benign Het
Cabin1 T C 10: 75,557,257 (GRCm39) N300S Het
Chia1 T A 3: 106,036,239 (GRCm39) L273Q probably damaging Het
Coq2 A G 5: 100,808,136 (GRCm39) S222P possibly damaging Het
Dgkb T C 12: 38,234,931 (GRCm39) V432A possibly damaging Het
Dpp3 A G 19: 4,973,797 (GRCm39) F92S probably damaging Het
Elapor2 T C 5: 9,496,975 (GRCm39) V813A possibly damaging Het
Emcn T C 3: 137,122,839 (GRCm39) S183P probably damaging Het
Emcn T A 3: 137,124,837 (GRCm39) W217R probably damaging Het
Enpp2 A C 15: 54,773,429 (GRCm39) probably null Het
Epb41 T C 4: 131,695,145 (GRCm39) E14G unknown Het
Fhip1b G T 7: 105,033,432 (GRCm39) R609S probably benign Het
Grk4 A G 5: 34,873,608 (GRCm39) R225G probably damaging Het
Insl6 A T 19: 29,298,945 (GRCm39) W156R possibly damaging Het
Ints3 A T 3: 90,311,290 (GRCm39) probably null Het
Jarid2 G A 13: 45,055,748 (GRCm39) G318D probably benign Het
Kif16b A T 2: 142,556,650 (GRCm39) L596H probably damaging Het
Lctl T A 9: 64,034,203 (GRCm39) Y281N probably damaging Het
Letm1 A T 5: 33,935,992 (GRCm39) C34S possibly damaging Het
Lrrc32 T C 7: 98,148,644 (GRCm39) S475P probably damaging Het
Lrrc37a T A 11: 103,389,767 (GRCm39) D1886V probably benign Het
Macf1 A T 4: 123,301,670 (GRCm39) I944K probably benign Het
Mecom C A 3: 30,034,282 (GRCm39) A465S possibly damaging Het
Muc16 A G 9: 18,567,768 (GRCm39) S1584P unknown Het
Mycbp2 A G 14: 103,434,679 (GRCm39) probably null Het
Myo18b G A 5: 112,959,938 (GRCm39) R1372W probably damaging Het
Myo1c T C 11: 75,560,616 (GRCm39) I706T possibly damaging Het
Myo1g T C 11: 6,460,933 (GRCm39) T704A possibly damaging Het
Nwd1 A G 8: 73,419,556 (GRCm39) K914E probably benign Het
Or5ac20 T A 16: 59,104,287 (GRCm39) D191V probably damaging Het
Or8b101 A T 9: 38,020,227 (GRCm39) I77L possibly damaging Het
Or8k23 C T 2: 86,186,088 (GRCm39) V213I probably benign Het
Otub2 C T 12: 103,366,480 (GRCm39) S99L probably damaging Het
Pak5 G A 2: 135,943,105 (GRCm39) S345L probably benign Het
Pcdhb20 A T 18: 37,638,616 (GRCm39) I381F possibly damaging Het
Pcdhga7 A G 18: 37,849,969 (GRCm39) T659A probably damaging Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Pik3c2a T A 7: 115,987,321 (GRCm39) K533N probably damaging Het
Pkd1l1 T A 11: 8,879,402 (GRCm39) Q933L Het
Ppp4r3a A T 12: 101,019,770 (GRCm39) M395K possibly damaging Het
Pramel11 C A 4: 143,621,991 (GRCm39) V455L probably benign Het
Ptpn20 A G 14: 33,336,481 (GRCm39) T107A probably benign Het
Scaf8 T A 17: 3,227,900 (GRCm39) D376E unknown Het
Scn11a C A 9: 119,644,331 (GRCm39) C143F probably damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Sec13 A T 6: 113,712,097 (GRCm39) Y79* probably null Het
Sez6 T A 11: 77,853,691 (GRCm39) I287N probably damaging Het
Slc52a3 T A 2: 151,846,336 (GRCm39) I99K possibly damaging Het
Slco4c1 T G 1: 96,799,518 (GRCm39) H106P probably damaging Het
Tada2b A G 5: 36,633,952 (GRCm39) Y209H probably damaging Het
Tas1r2 T A 4: 139,396,963 (GRCm39) D796E probably benign Het
Tdrd12 A T 7: 35,187,147 (GRCm39) M581K Het
Thnsl1 A G 2: 21,217,269 (GRCm39) E341G probably damaging Het
Tlk2 C T 11: 105,075,070 (GRCm39) R11* probably null Het
Tmco6 T C 18: 36,872,396 (GRCm39) probably null Het
Trmt44 A T 5: 35,721,647 (GRCm39) H505Q probably benign Het
Trpc1 T C 9: 95,590,328 (GRCm39) M710V probably benign Het
Ttc21b T C 2: 66,040,517 (GRCm39) E858G possibly damaging Het
Twsg1 C T 17: 66,236,782 (GRCm39) D83N possibly damaging Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Vmn2r6 T C 3: 64,464,195 (GRCm39) N213S probably benign Het
Vmn2r88 G A 14: 51,655,776 (GRCm39) V662I Het
Zfp414 C A 17: 33,850,253 (GRCm39) D217E probably benign 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
R5811:Mark4 UTSW 7 19,182,564 (GRCm39) missense probably damaging 1.00
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
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'- ACATCACATCTTGCCTCGTG -3'
(R):5'- AAGGATGCCCATTCCTTGG -3'

Sequencing Primer
(F):5'- AACCTCAGCCCCTCGGTC -3'
(R):5'- TCCTTGGCCCAAGTTTGCAAAAG -3'
Posted On 2019-06-26