Incidental Mutation 'IGL02901:Misp'
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ID363597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Misp
Ensembl Gene ENSMUSG00000035852
Gene Namemitotic spindle positioning
Synonyms9130017N09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL02901
Quality Score
Status
Chromosome10
Chromosomal Location79820989-79830490 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79826937 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 396 (Y396F)
Ref Sequence ENSEMBL: ENSMUSP00000151529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046833] [ENSMUST00000169041] [ENSMUST00000218687] [ENSMUST00000219305] [ENSMUST00000219734]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046833
AA Change: Y396F

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048893
Gene: ENSMUSG00000035852
AA Change: Y396F

DomainStartEndE-ValueType
low complexity region 262 284 N/A INTRINSIC
Pfam:AKAP2_C 294 643 2.2e-140 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169041
AA Change: Y396F

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852
AA Change: Y396F

DomainStartEndE-ValueType
low complexity region 262 284 N/A INTRINSIC
Pfam:AKAP2_C 294 643 1.7e-150 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218531
Predicted Effect probably benign
Transcript: ENSMUST00000218687
Predicted Effect possibly damaging
Transcript: ENSMUST00000219305
AA Change: Y396F

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000219734
Coding Region Coverage
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 an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,561,604 Y189N probably damaging Het
Ahdc1 A G 4: 133,064,934 D1162G possibly damaging Het
Alpk2 A G 18: 65,306,411 M637T probably benign Het
Arvcf G A 16: 18,398,242 A440T probably damaging Het
BC051665 A T 13: 60,784,718 V51E probably damaging Het
Clca3a2 A T 3: 144,816,768 V164E probably damaging Het
Cox6a2 A C 7: 128,206,282 L5R probably damaging Het
Cpsf1 A T 15: 76,599,496 L849* probably null Het
Dclk1 A G 3: 55,487,787 probably benign Het
Fam120b T A 17: 15,407,702 probably benign Het
Iqub A G 6: 24,454,195 L563P probably damaging Het
Itgb3 A T 11: 104,637,946 I300F probably benign Het
Mdga2 A G 12: 66,797,809 probably benign Het
Mfsd6 A G 1: 52,708,473 I411T probably benign Het
Nhsl2 T A X: 102,079,243 V884D probably benign Het
Nxf7 A T X: 135,587,235 probably null Het
Olfr120 T A 17: 37,726,420 I132K probably damaging Het
Olfr1271 G A 2: 90,265,708 H241Y probably damaging Het
Palld T A 8: 61,876,995 K283* probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Proc T G 18: 32,123,625 T330P possibly damaging Het
Prpf38a T C 4: 108,568,418 D221G probably damaging Het
Prss55 T A 14: 64,077,127 N198I probably damaging Het
Rabggta A G 14: 55,721,681 S10P probably benign Het
Sbk2 A G 7: 4,957,290 Y294H possibly damaging Het
Smyd1 A G 6: 71,238,630 V115A probably benign Het
Trpm7 A G 2: 126,807,287 probably null Het
Ttc21a A G 9: 119,958,281 N751S probably damaging Het
Upk1a A T 7: 30,603,779 M241K possibly damaging Het
Vmn2r71 A C 7: 85,619,262 E224D probably benign Het
Vmn2r81 C T 10: 79,270,730 T514I probably damaging Het
Zkscan16 T C 4: 58,946,283 W53R probably damaging Het
Other mutations in Misp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02419:Misp APN 10 79827871 unclassified probably benign
IGL02565:Misp APN 10 79826343 missense probably benign 0.33
R1118:Misp UTSW 10 79827135 missense probably benign 0.01
R1421:Misp UTSW 10 79826847 missense probably damaging 1.00
R1656:Misp UTSW 10 79825943 missense possibly damaging 0.75
R2864:Misp UTSW 10 79827038 missense probably benign 0.05
R3786:Misp UTSW 10 79825961 missense probably benign 0.23
R5035:Misp UTSW 10 79827956 missense probably benign 0.01
R5503:Misp UTSW 10 79826718 missense probably damaging 1.00
R5594:Misp UTSW 10 79827143 missense probably damaging 1.00
R5982:Misp UTSW 10 79827894 nonsense probably null
R6066:Misp UTSW 10 79826312 missense possibly damaging 0.66
R6236:Misp UTSW 10 79827122 missense probably benign 0.00
R7103:Misp UTSW 10 79827165 missense probably damaging 1.00
Posted On2015-12-18