Incidental Mutation 'R9327:Misp3'
ID 706579
Institutional Source Beutler Lab
Gene Symbol Misp3
Ensembl Gene ENSMUSG00000074217
Gene Name MISP family member 3
Synonyms 2210011C24Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R9327 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84736857-84738349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84737080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 105 (Q105K)
Ref Sequence ENSEMBL: ENSMUSP00000062086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056686] [ENSMUST00000185457] [ENSMUST00000188195] [ENSMUST00000190457] [ENSMUST00000191523]
AlphaFold A0A087WQ89
Predicted Effect unknown
Transcript: ENSMUST00000056686
AA Change: Q105K
SMART Domains Protein: ENSMUSP00000062086
Gene: ENSMUSG00000074217
AA Change: Q105K

DomainStartEndE-ValueType
Pfam:AKAP2_C 33 121 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185457
SMART Domains Protein: ENSMUSP00000140135
Gene: ENSMUSG00000074217

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
SMART Domains Protein: ENSMUSP00000140089
Gene: ENSMUSG00000074217

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
SMART Domains Protein: ENSMUSP00000140360
Gene: ENSMUSG00000074217

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
Allele List at MGI

All alleles(8) : Gene trapped(8)
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,895,499 (GRCm39) M194K probably benign Het
Abcg1 T C 17: 31,333,122 (GRCm39) S622P probably benign Het
Ahnak2 A T 12: 112,748,446 (GRCm39) V467E Het
Amdhd2 T C 17: 24,377,421 (GRCm39) E164G probably benign Het
Ank3 G A 10: 69,812,086 (GRCm39) probably null Het
Bank1 A T 3: 135,799,308 (GRCm39) N545K probably benign Het
C9orf72 A G 4: 35,205,883 (GRCm39) I247T Het
Cep63 T C 9: 102,467,723 (GRCm39) I548V probably benign Het
Col28a1 T C 6: 8,175,653 (GRCm39) D65G unknown Het
Cspg4b C A 13: 113,453,710 (GRCm39) Q58K Het
Cyp2c50 A G 19: 40,079,010 (GRCm39) N118D probably benign Het
Dock10 C T 1: 80,510,184 (GRCm39) C1549Y probably damaging Het
Epg5 A G 18: 77,991,435 (GRCm39) E44G probably benign Het
Ephb4 T C 5: 137,361,529 (GRCm39) S520P probably damaging Het
Eppk1 T C 15: 75,993,755 (GRCm39) E1042G probably benign Het
Fmod A T 1: 133,968,589 (GRCm39) N210Y probably damaging Het
Fpr3 A G 17: 18,191,713 (GRCm39) D328G probably damaging Het
Garem2 T G 5: 30,321,989 (GRCm39) C783G probably benign Het
Gm10542 A G 18: 44,337,689 (GRCm39) N56D probably damaging Het
Gm20939 T A 17: 95,184,424 (GRCm39) N357K probably benign Het
Hr A G 14: 70,805,228 (GRCm39) H990R possibly damaging Het
Il21r A G 7: 125,226,163 (GRCm39) N53S unknown Het
Insrr C T 3: 87,721,604 (GRCm39) T1170I probably damaging Het
Itga11 A G 9: 62,638,034 (GRCm39) M103V probably damaging Het
Izumo3 G T 4: 92,035,050 (GRCm39) Q56K probably damaging Het
Kcnh8 T C 17: 53,146,084 (GRCm39) V324A probably damaging Het
Kcnj2 T A 11: 110,963,719 (GRCm39) N370K probably benign Het
Klf16 G T 10: 80,412,688 (GRCm39) S116* probably null Het
Mettl16 T C 11: 74,696,089 (GRCm39) V310A probably benign Het
Mmrn2 G A 14: 34,097,473 (GRCm39) probably benign Het
Mtcl1 A G 17: 66,645,130 (GRCm39) L1888P probably damaging Het
Muc5ac A C 7: 141,365,429 (GRCm39) T1984P possibly damaging Het
Myo16 G T 8: 10,489,705 (GRCm39) probably null Het
Nckipsd T C 9: 108,691,699 (GRCm39) I466T possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Npffr2 A G 5: 89,730,661 (GRCm39) H197R probably benign Het
Nrap T A 19: 56,340,100 (GRCm39) M842L probably benign Het
Nxpe4 G A 9: 48,309,984 (GRCm39) A416T probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or51t4 T C 7: 102,597,687 (GRCm39) V5A probably benign Het
Or52n20 A G 7: 104,320,742 (GRCm39) I278V probably damaging Het
Or5p53 T A 7: 107,533,019 (GRCm39) C97* probably null Het
Ppp1r15a C T 7: 45,174,035 (GRCm39) A258T possibly damaging Het
Prss36 A T 7: 127,532,570 (GRCm39) Y760* probably null Het
Psg26 T A 7: 18,216,480 (GRCm39) T120S probably damaging Het
Ptk7 A T 17: 46,878,977 (GRCm39) L908Q probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc25a44 A T 3: 88,328,025 (GRCm39) H155Q probably benign Het
Smarcc2 A G 10: 128,321,486 (GRCm39) T894A probably damaging Het
Tle4 A G 19: 14,574,149 (GRCm39) F39L probably damaging Het
Tmem181a G A 17: 6,346,048 (GRCm39) V181M possibly damaging Het
Tmt1b A G 10: 128,794,607 (GRCm39) M239T probably benign Het
Trpm3 T C 19: 22,896,004 (GRCm39) V947A possibly damaging Het
Txndc16 G A 14: 45,379,448 (GRCm39) T663I probably benign Het
Vmn2r45 T C 7: 8,474,532 (GRCm39) Y832C probably damaging Het
Vmn2r9 T C 5: 108,996,841 (GRCm39) T143A probably damaging Het
Vps26b T C 9: 26,930,750 (GRCm39) N82D probably benign Het
Zfp318 T G 17: 46,721,892 (GRCm39) F1298L probably 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
R6918:Misp3 UTSW 8 84,738,313 (GRCm39) start codon destroyed probably benign 0.01
R8369:Misp3 UTSW 8 84,737,627 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGGGTTTCCAAGGAAGACTAG -3'
(R):5'- TCTGAGAAGGTGGGAGACTC -3'

Sequencing Primer
(F):5'- CCAAGGAAGACTAGAGAATTTTATGG -3'
(R):5'- AGAAGGTGCCTCTTGGTCC -3'
Posted On 2022-04-18