Incidental Mutation 'R1118:Misp'
ID 97581
Institutional Source Beutler Lab
Gene Symbol Misp
Ensembl Gene ENSMUSG00000035852
Gene Name mitotic spindle positioning
Synonyms 9130017N09Rik
MMRRC Submission 039191-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1118 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79656853-79666286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79662969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 462 (V462A)
Ref Sequence ENSEMBL: ENSMUSP00000151529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046833] [ENSMUST00000169041] [ENSMUST00000218687] [ENSMUST00000219305] [ENSMUST00000219734]
AlphaFold Q9D279
Predicted Effect probably benign
Transcript: ENSMUST00000046833
AA Change: V462A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000048893
Gene: ENSMUSG00000035852
AA Change: V462A

DomainStartEndE-ValueType
low complexity region 262 284 N/A INTRINSIC
Pfam:AKAP2_C 294 643 2.2e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169041
AA Change: V462A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852
AA Change: V462A

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 probably benign
Transcript: ENSMUST00000219305
AA Change: V462A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000219734
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apcdd1 A G 18: 63,085,095 (GRCm39) T431A probably benign Het
Bcan T A 3: 87,896,534 (GRCm39) I721F probably damaging Het
Card10 T C 15: 78,686,643 (GRCm39) D58G possibly damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Celsr1 T C 15: 85,916,248 (GRCm39) D575G probably damaging Het
Ces1f A G 8: 93,993,870 (GRCm39) probably benign Het
Cped1 A T 6: 22,237,698 (GRCm39) H938L probably benign Het
Creld1 A G 6: 113,468,656 (GRCm39) D259G probably benign Het
Cubn T C 2: 13,341,053 (GRCm39) I2223V possibly damaging Het
Dop1a A G 9: 86,397,459 (GRCm39) D921G probably damaging Het
Dusp7 T C 9: 106,250,849 (GRCm39) S325P possibly damaging Het
Fat4 A T 3: 39,037,091 (GRCm39) D3581V possibly damaging Het
Fhl3 T C 4: 124,599,584 (GRCm39) probably null Het
Gap43 T C 16: 42,112,167 (GRCm39) E198G probably benign Het
Garin4 G A 1: 190,896,682 (GRCm39) probably benign Het
Grina T C 15: 76,132,779 (GRCm39) F182S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Haus6 A G 4: 86,503,563 (GRCm39) probably null Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itih4 C A 14: 30,618,124 (GRCm39) probably benign Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Kif22 A G 7: 126,631,916 (GRCm39) S384P probably benign Het
Lbr A C 1: 181,648,233 (GRCm39) probably benign Het
Mei1 G A 15: 82,000,068 (GRCm39) probably benign Het
Mrgpra3 A C 7: 47,239,039 (GRCm39) L296V possibly damaging Het
Ndufa9 A T 6: 126,799,031 (GRCm39) L362Q probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Or4f14 T A 2: 111,743,222 (GRCm39) T18S probably benign Het
Otud4 C T 8: 80,379,980 (GRCm39) probably benign Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb15 T A 18: 37,606,815 (GRCm39) F16I probably benign Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pdxdc1 T A 16: 13,697,278 (GRCm39) probably benign Het
Pgc T A 17: 48,039,828 (GRCm39) probably null Het
Phf11a T C 14: 59,521,778 (GRCm39) D131G probably benign Het
Prdm2 G A 4: 142,858,953 (GRCm39) H1446Y possibly damaging Het
Rad54b T C 4: 11,563,352 (GRCm39) S4P probably damaging Het
Slc52a2 T C 15: 76,423,808 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,623,490 (GRCm39) probably benign Het
Smad4 T C 18: 73,773,333 (GRCm39) D551G probably benign Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sspo A G 6: 48,436,352 (GRCm39) Y1234C probably damaging Het
Stab2 A T 10: 86,721,582 (GRCm39) probably null Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Stmn4 T G 14: 66,591,844 (GRCm39) probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tex14 A T 11: 87,413,343 (GRCm39) R1031S probably benign Het
Tia1 G A 6: 86,396,091 (GRCm39) V96I probably benign Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trpm7 A G 2: 126,664,406 (GRCm39) M991T possibly damaging Het
Ttc3 T A 16: 94,217,127 (GRCm39) probably benign Het
Vcan G A 13: 89,853,782 (GRCm39) P393S probably damaging Het
Vmn2r107 G A 17: 20,576,860 (GRCm39) R286Q probably benign Het
Wdr87-ps G A 7: 29,233,669 (GRCm39) noncoding transcript Het
Wrap73 A T 4: 154,236,884 (GRCm39) probably null Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y possibly damaging Het
Other mutations in Misp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02419:Misp APN 10 79,663,705 (GRCm39) unclassified probably benign
IGL02565:Misp APN 10 79,662,177 (GRCm39) missense probably benign 0.33
IGL02901:Misp APN 10 79,662,771 (GRCm39) missense possibly damaging 0.70
R1421:Misp UTSW 10 79,662,681 (GRCm39) missense probably damaging 1.00
R1656:Misp UTSW 10 79,661,777 (GRCm39) missense possibly damaging 0.75
R2864:Misp UTSW 10 79,662,872 (GRCm39) missense probably benign 0.05
R3786:Misp UTSW 10 79,661,795 (GRCm39) missense probably benign 0.23
R5035:Misp UTSW 10 79,663,790 (GRCm39) missense probably benign 0.01
R5503:Misp UTSW 10 79,662,552 (GRCm39) missense probably damaging 1.00
R5594:Misp UTSW 10 79,662,977 (GRCm39) missense probably damaging 1.00
R5982:Misp UTSW 10 79,663,728 (GRCm39) nonsense probably null
R6066:Misp UTSW 10 79,662,146 (GRCm39) missense possibly damaging 0.66
R6236:Misp UTSW 10 79,662,956 (GRCm39) missense probably benign 0.00
R7103:Misp UTSW 10 79,662,999 (GRCm39) missense probably damaging 1.00
R8170:Misp UTSW 10 79,662,300 (GRCm39) missense probably benign 0.39
R8479:Misp UTSW 10 79,663,750 (GRCm39) missense possibly damaging 0.91
R8961:Misp UTSW 10 79,663,823 (GRCm39) missense probably benign 0.01
R9430:Misp UTSW 10 79,661,675 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGCTTGACAGAGACACCTCCAC -3'
(R):5'- TTTCCCTCTCCAGCAGGTCAGATG -3'

Sequencing Primer
(F):5'- TCCCTCTATGTGCAAAGGGAC -3'
(R):5'- CCAGCAGGTCAGATGACTGTG -3'
Posted On 2014-01-05