Incidental Mutation 'IGL00952:Mark4'
ID 27866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mark4
Ensembl Gene ENSMUSG00000030397
Gene Name MAP/microtubule affinity regulating kinase 4
Synonyms 2410090P21Rik, Markl1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00952
Quality Score
Status
Chromosome 7
Chromosomal Location 19158700-19192746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19165749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 515 (T515A)
Ref Sequence ENSEMBL: ENSMUSP00000082862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085715] [ENSMUST00000209058]
AlphaFold Q8CIP4
Predicted Effect possibly damaging
Transcript: ENSMUST00000085715
AA Change: T515A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: T515A

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: ENSMUST00000208650
Predicted Effect probably benign
Transcript: ENSMUST00000209058
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,941,733 (GRCm39) I4S probably benign Het
Abca8b A G 11: 109,859,886 (GRCm39) probably null Het
Aftph A T 11: 20,677,483 (GRCm39) V42E probably damaging Het
AI467606 A G 7: 126,691,874 (GRCm39) S150G probably damaging Het
Art4 T C 6: 136,831,818 (GRCm39) N108D possibly damaging Het
B9d1 G A 11: 61,403,504 (GRCm39) V167I possibly damaging Het
Ccdc47 A T 11: 106,094,358 (GRCm39) probably null Het
Ccdc96 T A 5: 36,642,424 (GRCm39) probably benign Het
Cfap44 A G 16: 44,241,638 (GRCm39) I670V probably benign Het
Col18a1 T G 10: 76,905,813 (GRCm39) K909Q possibly damaging Het
Col8a2 A G 4: 126,203,584 (GRCm39) Y59C probably damaging Het
Coro6 A T 11: 77,359,291 (GRCm39) D288V probably damaging Het
Cul4a C T 8: 13,196,562 (GRCm39) L739F probably damaging Het
Dmxl2 C T 9: 54,324,166 (GRCm39) V1073I probably damaging Het
Dnah11 T C 12: 118,160,386 (GRCm39) T115A possibly damaging Het
Fdx2 A G 9: 20,984,558 (GRCm39) probably null Het
Flnc C T 6: 29,459,546 (GRCm39) Q2549* probably null Het
Foxn2 T C 17: 88,783,308 (GRCm39) C188R probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilf3 T C 9: 21,307,347 (GRCm39) L343P probably damaging Het
Itgb2l C T 16: 96,227,950 (GRCm39) G518S probably damaging Het
Itpr2 T A 6: 146,060,459 (GRCm39) I2486F probably damaging Het
Kat2a A G 11: 100,596,977 (GRCm39) V681A probably damaging Het
Kif17 A G 4: 137,990,019 (GRCm39) N69S possibly damaging Het
Kif26b G A 1: 178,759,770 (GRCm39) D2106N probably damaging Het
Klf6 A G 13: 5,911,680 (GRCm39) T15A probably benign Het
Lyst A G 13: 13,852,692 (GRCm39) T2231A probably benign Het
Mast3 A T 8: 71,233,327 (GRCm39) probably benign Het
Nalcn T C 14: 123,586,201 (GRCm39) K722R probably benign Het
Ncf2 G A 1: 152,711,857 (GRCm39) E524K probably benign Het
Or56a3b A G 7: 104,771,614 (GRCm39) probably null Het
Or5p81 A G 7: 108,267,445 (GRCm39) N274S possibly damaging Het
Or5w12 A T 2: 87,502,159 (GRCm39) I184N probably damaging Het
Or8c17 A T 9: 38,179,801 (GRCm39) probably benign Het
Plcg2 A T 8: 118,333,956 (GRCm39) M910L probably benign Het
Pramel14 T C 4: 143,719,894 (GRCm39) H157R probably benign Het
Rai1 A T 11: 60,078,818 (GRCm39) K961* probably null Het
Rsph14 T C 10: 74,865,601 (GRCm39) D112G probably benign Het
Sgo1 T A 17: 53,994,275 (GRCm39) D59V probably damaging Het
Slc22a29 A T 19: 8,195,221 (GRCm39) V138E probably damaging Het
Slc9a1 T A 4: 133,143,693 (GRCm39) V393D probably damaging Het
Smg6 A G 11: 74,819,974 (GRCm39) R82G probably benign Het
Sppl3 T C 5: 115,212,935 (GRCm39) S55P probably benign Het
Srsf12 A C 4: 33,226,103 (GRCm39) Q122P possibly damaging Het
Tas1r2 T C 4: 139,382,563 (GRCm39) M67T probably benign Het
Thnsl1 G A 2: 21,216,767 (GRCm39) V174I possibly damaging Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Tnxb T G 17: 34,932,102 (GRCm39) Y2212D probably damaging Het
Trim40 T C 17: 37,193,289 (GRCm39) *213W probably null Het
Ttc16 T C 2: 32,660,259 (GRCm39) D183G probably damaging Het
Other mutations in Mark4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17