Incidental Mutation 'R6918:Misp3'
ID 554303
Institutional Source Beutler Lab
Gene Symbol Misp3
Ensembl Gene ENSMUSG00000074217
Gene Name MISP family member 3
Synonyms 2210011C24Rik
MMRRC Submission 045005-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # R6918 (G1)
Quality Score 42.0073
Status Validated
Chromosome 8
Chromosomal Location 84736857-84738349 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to G at 84738313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000140360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056686] [ENSMUST00000185457] [ENSMUST00000188195] [ENSMUST00000190457] [ENSMUST00000191523]
AlphaFold A0A087WQ89
Predicted Effect probably benign
Transcript: ENSMUST00000056686
SMART Domains Protein: ENSMUSP00000062086
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
Pfam:AKAP2_C 33 121 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185457
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000140135
Gene: ENSMUSG00000074217
AA Change: M1L

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 80 2.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188195
SMART Domains Protein: ENSMUSP00000140472
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
Pfam:AKAP2_C 23 107 1.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190457
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000140089
Gene: ENSMUSG00000074217
AA Change: M1L

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 130 4e-18 PFAM
Pfam:AKAP2_C 123 204 6.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191523
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000140360
Gene: ENSMUSG00000074217
AA Change: M1L

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 78 1.7e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (48/48)
Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A C 17: 24,627,632 (GRCm39) K1359Q probably damaging Het
Ace T C 11: 105,863,769 (GRCm39) Y406H probably damaging Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Alms1 T A 6: 85,599,643 (GRCm39) Y1959N possibly damaging Het
Chrna7 T A 7: 62,809,299 (GRCm39) I76F probably benign Het
Cuedc1 C T 11: 88,077,899 (GRCm39) T296I probably benign Het
Ddc A G 11: 11,769,307 (GRCm39) V409A probably damaging Het
Dhx8 T A 11: 101,629,247 (GRCm39) Y212* probably null Het
Dnah6 T A 6: 73,158,738 (GRCm39) K622* probably null Het
Dscaml1 A G 9: 45,341,805 (GRCm39) H72R probably benign Het
Dyrk1b A G 7: 27,885,350 (GRCm39) D396G probably damaging Het
Gstm2 A G 3: 107,892,557 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,425 (GRCm39) Y189H probably damaging Het
Kif1c G A 11: 70,597,813 (GRCm39) E356K probably damaging Het
Kirrel2 A C 7: 30,150,239 (GRCm39) C17G probably damaging Het
Klhl12 A G 1: 134,403,584 (GRCm39) H259R possibly damaging Het
Krt1 A G 15: 101,758,612 (GRCm39) V184A probably damaging Het
Lmod2 A T 6: 24,603,594 (GRCm39) N190Y probably benign Het
Lrp2 A C 2: 69,319,649 (GRCm39) V1958G probably damaging Het
Ly6h T C 15: 75,437,507 (GRCm39) S37G probably damaging Het
Man2a2 A T 7: 80,002,940 (GRCm39) H1056Q possibly damaging Het
Mixl1 T A 1: 180,522,243 (GRCm39) I213F probably benign Het
Morc3 T C 16: 93,650,023 (GRCm39) I268T probably benign Het
Mtx2 C T 2: 74,706,697 (GRCm39) T224I probably damaging Het
Or8c15 G A 9: 38,120,948 (GRCm39) V198M possibly damaging Het
Oscp1 A C 4: 125,970,571 (GRCm39) D120A possibly damaging Het
Parp1 G A 1: 180,416,235 (GRCm39) V545I possibly damaging Het
Pipox A G 11: 77,772,380 (GRCm39) I330T probably damaging Het
Pkp2 A G 16: 16,090,082 (GRCm39) Y790C probably damaging Het
Pomt1 T A 2: 32,142,873 (GRCm39) probably null Het
Pp2d1 G A 17: 53,822,487 (GRCm39) T193M probably damaging Het
Prkra G T 2: 76,460,797 (GRCm39) H300Q probably damaging Het
Ror2 T G 13: 53,265,487 (GRCm39) N523T probably damaging Het
Rp1 A T 1: 4,069,831 (GRCm39) D1355E unknown Het
Rsph4a T C 10: 33,781,272 (GRCm39) Y41H probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Taar7e T A 10: 23,913,513 (GRCm39) M1K probably null Het
Tex15 T G 8: 34,063,212 (GRCm39) L1155V probably benign Het
Tmprss3 T C 17: 31,407,331 (GRCm39) K321E probably benign Het
Trappc14 A G 5: 138,258,926 (GRCm39) V211A probably benign Het
Tsc2 A T 17: 24,832,203 (GRCm39) C728S probably damaging Het
Ube2e3 A T 2: 78,750,383 (GRCm39) K203M probably damaging Het
Unc50 A T 1: 37,477,783 (GRCm39) T222S probably damaging Het
Vmn1r236 A T 17: 21,507,878 (GRCm39) H332L probably benign Het
Vmn2r7 G A 3: 64,598,760 (GRCm39) T599I probably benign Het
Zfp334 A T 2: 165,223,799 (GRCm39) D81E possibly damaging Het
Zfp710 A G 7: 79,731,788 (GRCm39) I322V possibly damaging Het
Other mutations in Misp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
E2594:Misp3 UTSW 8 84,737,331 (GRCm39) unclassified probably benign
R2993:Misp3 UTSW 8 84,738,213 (GRCm39) missense probably damaging 0.99
R8369:Misp3 UTSW 8 84,737,627 (GRCm39) missense unknown
R9327:Misp3 UTSW 8 84,737,080 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGAAGCGCTTGAGTTCGTC -3'
(R):5'- AGCACTTGCAGACTCTGGAG -3'

Sequencing Primer
(F):5'- TGAGCCTCGCGTTCGATGTC -3'
(R):5'- TCTGGAGCCAGAGAGCCAG -3'
Posted On 2019-05-17