Incidental Mutation 'R3625:Map6'
ID 473187
Institutional Source Beutler Lab
Gene Symbol Map6
Ensembl Gene ENSMUSG00000055407
Gene Name microtubule-associated protein 6
Synonyms Mtap6, 2810411E12Rik, F-STOP, STOP
MMRRC Submission 040679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R3625 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 98916654-98986344 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98918402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 189 (T189S)
Ref Sequence ENSEMBL: ENSMUSP00000146954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068973] [ENSMUST00000107100] [ENSMUST00000122101] [ENSMUST00000127492] [ENSMUST00000207883] [ENSMUST00000208605] [ENSMUST00000208924]
AlphaFold Q7TSJ2
Predicted Effect probably benign
Transcript: ENSMUST00000068973
AA Change: T392S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: T392S

DomainStartEndE-ValueType
low complexity region 42 57 N/A INTRINSIC
low complexity region 93 117 N/A INTRINSIC
internal_repeat_1 191 306 6.21e-27 PROSPERO
internal_repeat_1 302 398 6.21e-27 PROSPERO
low complexity region 501 525 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107100
AA Change: T189S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407
AA Change: T189S

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
internal_repeat_1 28 103 5.9e-29 PROSPERO
internal_repeat_1 120 195 5.9e-29 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000122101
AA Change: T392S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: T392S

DomainStartEndE-ValueType
Pfam:STOP 1 184 1.2e-18 PFAM
internal_repeat_1 191 306 1.99e-35 PROSPERO
internal_repeat_1 302 398 1.99e-35 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000127492
AA Change: T392S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180761
Predicted Effect probably benign
Transcript: ENSMUST00000207883
AA Change: T392S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208605
AA Change: T189S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208924
AA Change: T189S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209094
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are devoid of cold-stable microtubules, and exhibit impaired synaptic plasticity, associated with severe behavioral abnormalities that are specifically ameliorated by long-term administration of neuroleptics. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,425,591 (GRCm39) V80A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg3 T A 16: 44,995,624 (GRCm39) I119N probably benign Het
Cdh12 G C 15: 21,358,842 (GRCm39) V89L probably damaging Het
Cdh3 C A 8: 107,270,310 (GRCm39) H396N probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dab2ip C A 2: 35,533,903 (GRCm39) S43* probably null Het
Dmxl2 A G 9: 54,300,927 (GRCm39) S2394P probably benign Het
F13a1 T G 13: 37,082,067 (GRCm39) N546H probably benign Het
Fbn2 T C 18: 58,194,814 (GRCm39) N1449S probably damaging Het
Flywch1 T C 17: 23,979,175 (GRCm39) probably benign Het
Grxcr2 T A 18: 42,131,883 (GRCm39) D62V probably damaging Het
H2bc8 T C 13: 23,755,625 (GRCm39) probably benign Het
Ifnab A T 4: 88,609,016 (GRCm39) I150N probably damaging Het
Igsf8 T C 1: 172,145,336 (GRCm39) V284A probably benign Het
Kdm1a T C 4: 136,288,419 (GRCm39) E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 (GRCm39) R376C probably damaging Het
Mms22l T A 4: 24,505,357 (GRCm39) S206T probably damaging Het
N4bp1 A G 8: 87,578,337 (GRCm39) L676S probably damaging Het
Nkx6-2 A G 7: 139,162,106 (GRCm39) F117S possibly damaging Het
Ociad2 C T 5: 73,481,173 (GRCm39) C72Y probably damaging Het
Or10w1 T A 19: 13,632,346 (GRCm39) C184* probably null Het
Or52e15 A T 7: 104,645,191 (GRCm39) F307I probably benign Het
Pcdhb6 G T 18: 37,469,193 (GRCm39) V21L probably damaging Het
Pogk G A 1: 166,231,081 (GRCm39) T82I probably damaging Het
Pramel51 T C 12: 88,142,731 (GRCm39) S296G probably benign Het
Prkcsh A G 9: 21,922,548 (GRCm39) E283G probably null Het
Prkd3 C T 17: 79,292,733 (GRCm39) R113H probably damaging Het
Rabgef1 T C 5: 130,240,961 (GRCm39) probably null Het
Rec8 T C 14: 55,859,954 (GRCm39) I234T possibly damaging Het
Sim1 A T 10: 50,857,432 (GRCm39) H394L probably benign Het
Thy1 A G 9: 43,958,028 (GRCm39) E52G probably damaging Het
Trav14n-3 A T 14: 53,607,543 (GRCm39) I4F probably damaging Het
Trim15 T C 17: 37,177,768 (GRCm39) T76A possibly damaging Het
Ttn A G 2: 76,599,145 (GRCm39) I19288T probably damaging Het
Vmn1r6 C T 6: 56,979,920 (GRCm39) T172I probably damaging Het
Vmn2r52 A T 7: 9,893,105 (GRCm39) L678Q probably damaging Het
Vpreb1a T C 16: 16,686,668 (GRCm39) H74R probably benign Het
Yeats4 T C 10: 117,056,273 (GRCm39) I100V probably benign Het
Zfp36 C A 7: 28,077,681 (GRCm39) A76S probably benign Het
Other mutations in Map6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0035:Map6 UTSW 7 98,966,815 (GRCm39) missense probably damaging 1.00
R0035:Map6 UTSW 7 98,966,815 (GRCm39) missense probably damaging 1.00
R0118:Map6 UTSW 7 98,966,824 (GRCm39) missense possibly damaging 0.53
R0125:Map6 UTSW 7 98,985,187 (GRCm39) splice site probably null
R0244:Map6 UTSW 7 98,986,043 (GRCm39) missense probably benign 0.00
R0973:Map6 UTSW 7 98,985,950 (GRCm39) missense possibly damaging 0.78
R0973:Map6 UTSW 7 98,985,950 (GRCm39) missense possibly damaging 0.78
R0974:Map6 UTSW 7 98,985,950 (GRCm39) missense possibly damaging 0.78
R1455:Map6 UTSW 7 98,917,421 (GRCm39) missense probably damaging 1.00
R1678:Map6 UTSW 7 98,917,305 (GRCm39) missense probably damaging 1.00
R1696:Map6 UTSW 7 98,966,664 (GRCm39) splice site probably null
R1866:Map6 UTSW 7 98,965,083 (GRCm39) missense probably damaging 1.00
R2061:Map6 UTSW 7 98,966,679 (GRCm39) missense probably damaging 1.00
R3236:Map6 UTSW 7 98,986,031 (GRCm39) missense probably damaging 1.00
R4044:Map6 UTSW 7 98,917,256 (GRCm39) missense probably damaging 1.00
R4570:Map6 UTSW 7 98,985,763 (GRCm39) missense possibly damaging 0.49
R5056:Map6 UTSW 7 98,985,859 (GRCm39) missense probably benign 0.05
R5065:Map6 UTSW 7 98,985,917 (GRCm39) missense probably benign 0.02
R5656:Map6 UTSW 7 98,985,505 (GRCm39) missense probably damaging 1.00
R6101:Map6 UTSW 7 98,917,314 (GRCm39) missense probably damaging 1.00
R6105:Map6 UTSW 7 98,917,314 (GRCm39) missense probably damaging 1.00
R6302:Map6 UTSW 7 98,985,314 (GRCm39) missense probably damaging 0.99
R6450:Map6 UTSW 7 98,917,245 (GRCm39) missense probably damaging 1.00
R6915:Map6 UTSW 7 98,917,454 (GRCm39) missense probably damaging 1.00
R7205:Map6 UTSW 7 98,918,257 (GRCm39) missense probably benign 0.00
R7223:Map6 UTSW 7 98,917,232 (GRCm39) missense probably damaging 1.00
R7293:Map6 UTSW 7 98,985,740 (GRCm39) missense possibly damaging 0.49
R7481:Map6 UTSW 7 98,918,345 (GRCm39) missense possibly damaging 0.57
R7489:Map6 UTSW 7 98,917,268 (GRCm39) missense probably damaging 1.00
R7691:Map6 UTSW 7 98,985,499 (GRCm39) missense possibly damaging 0.95
R7693:Map6 UTSW 7 98,985,499 (GRCm39) missense possibly damaging 0.95
R7695:Map6 UTSW 7 98,985,499 (GRCm39) missense possibly damaging 0.95
R8341:Map6 UTSW 7 98,917,647 (GRCm39) missense possibly damaging 0.75
R8865:Map6 UTSW 7 98,918,192 (GRCm39) missense probably benign 0.37
R8953:Map6 UTSW 7 98,965,078 (GRCm39) missense probably damaging 1.00
R9108:Map6 UTSW 7 98,986,103 (GRCm39) missense probably damaging 1.00
R9173:Map6 UTSW 7 98,917,935 (GRCm39) missense probably damaging 1.00
R9613:Map6 UTSW 7 98,918,384 (GRCm39) missense possibly damaging 0.90
R9654:Map6 UTSW 7 98,986,166 (GRCm39) missense probably damaging 1.00
Z1176:Map6 UTSW 7 98,966,867 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14