Incidental Mutation 'R8999:Msantd5f9'
ID 684853
Institutional Source Beutler Lab
Gene Symbol Msantd5f9
Ensembl Gene ENSMUSG00000093962
Gene Name Myb/SANT DNA binding domain containing 5 family member 9
Synonyms Gm11756
MMRRC Submission 068830-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8999 (G1)
Quality Score 141.008
Status Not validated
Chromosome 4
Chromosomal Location 73834964-73838953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 73837420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 99 (N99K)
Ref Sequence ENSEMBL: ENSMUSP00000102931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107310] [ENSMUST00000107312]
AlphaFold A2BEJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000107310
AA Change: N99K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102931
Gene: ENSMUSG00000093962
AA Change: N99K

DomainStartEndE-ValueType
internal_repeat_1 30 163 1.53e-21 PROSPERO
internal_repeat_1 159 288 1.53e-21 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000107312
AA Change: N99K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102933
Gene: ENSMUSG00000093962
AA Change: N99K

DomainStartEndE-ValueType
low complexity region 65 80 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,921,083 (GRCm39) E245G possibly damaging Het
Cd6 A T 19: 10,776,642 (GRCm39) C128S probably damaging Het
Cep41 T C 6: 30,666,165 (GRCm39) D98G probably benign Het
Cfap52 T C 11: 67,818,137 (GRCm39) K525E probably damaging Het
Ddx10 T C 9: 53,140,534 (GRCm39) E289G possibly damaging Het
Dnah1 T C 14: 31,018,235 (GRCm39) T1428A probably benign Het
Dsg3 T C 18: 20,666,684 (GRCm39) L631P probably damaging Het
Dusp19 T A 2: 80,461,271 (GRCm39) C187S probably benign Het
Efcab3 A T 11: 104,640,477 (GRCm39) M1072L probably benign Het
Fap T C 2: 62,367,368 (GRCm39) H338R probably benign Het
Fxyd2 T C 9: 45,314,295 (GRCm39) probably benign Het
Gabrg1 T A 5: 70,973,378 (GRCm39) I59F probably benign Het
Glb1l3 A T 9: 26,764,914 (GRCm39) probably null Het
Gpr27 T C 6: 99,669,776 (GRCm39) I46T possibly damaging Het
Igkv8-26 C A 6: 70,170,514 (GRCm39) A35E probably benign Het
Ikzf1 A G 11: 11,635,013 (GRCm39) probably benign Het
Krt18 A C 15: 101,939,874 (GRCm39) E357D probably damaging Het
Lbr C T 1: 181,646,512 (GRCm39) G470E probably damaging Het
Map2 A T 1: 66,452,473 (GRCm39) K454N possibly damaging Het
Map2k3 T C 11: 60,840,817 (GRCm39) V282A Het
Men1 G A 19: 6,389,960 (GRCm39) V538I probably benign Het
Mfn1 T A 3: 32,623,683 (GRCm39) M621K possibly damaging Het
Mpdz C A 4: 81,202,882 (GRCm39) G1838* probably null Het
Mypn A T 10: 62,998,050 (GRCm39) L420* probably null Het
Nkx6-1 T C 5: 101,812,082 (GRCm39) M7V unknown Het
Notum G A 11: 120,545,207 (GRCm39) H451Y probably benign Het
Odad2 C A 18: 7,211,574 (GRCm39) V767L possibly damaging Het
Or11i1 A T 3: 106,728,999 (GRCm39) I292N probably damaging Het
Or2b28 A G 13: 21,531,988 (GRCm39) K297E probably damaging Het
Or6c3 A G 10: 129,309,386 (GRCm39) N275S probably benign Het
Pabpc4l A C 3: 46,400,783 (GRCm39) I287S probably benign Het
Pcdha2 C T 18: 37,073,428 (GRCm39) T353M possibly damaging Het
Plekha1 T C 7: 130,510,199 (GRCm39) I315T unknown Het
Ppp2r2b C T 18: 42,870,993 (GRCm39) A106T probably benign Het
Prkch T C 12: 73,742,973 (GRCm39) V209A probably damaging Het
Ptprc A G 1: 138,028,930 (GRCm39) C284R probably damaging Het
Ptprf A G 4: 118,083,671 (GRCm39) V804A probably benign Het
Rbp3 C T 14: 33,684,360 (GRCm39) R1130* probably null Het
Serpina6 C G 12: 103,617,988 (GRCm39) R275P probably damaging Het
Six3 T A 17: 85,931,164 (GRCm39) H273Q probably benign Het
Stk35 C A 2: 129,652,509 (GRCm39) P337T probably damaging Het
Supt5 A G 7: 28,037,848 (GRCm39) S2P unknown Het
Tnik A G 3: 28,719,920 (GRCm39) Y1264C probably damaging Het
Trim45 A G 3: 100,838,960 (GRCm39) T621A unknown Het
Tyrp1 T C 4: 80,763,094 (GRCm39) L327P probably damaging Het
Vmn2r69 A C 7: 85,060,307 (GRCm39) S426A probably benign Het
Other mutations in Msantd5f9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1809:Msantd5f9 UTSW 4 73,835,754 (GRCm39) missense probably benign 0.27
R7082:Msantd5f9 UTSW 4 73,835,808 (GRCm39) missense probably benign
R7233:Msantd5f9 UTSW 4 73,835,808 (GRCm39) missense probably benign
R7234:Msantd5f9 UTSW 4 73,835,808 (GRCm39) missense probably benign
R7235:Msantd5f9 UTSW 4 73,835,808 (GRCm39) missense probably benign
R7236:Msantd5f9 UTSW 4 73,835,808 (GRCm39) missense probably benign
R7746:Msantd5f9 UTSW 4 73,838,099 (GRCm39) missense possibly damaging 0.92
R8998:Msantd5f9 UTSW 4 73,837,420 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGACACACAGAGCAGCC -3'
(R):5'- TGCTGCAAGAGTGGGCAATG -3'

Sequencing Primer
(F):5'- AAGGACTTGCAGCAGTTGTG -3'
(R):5'- TGGTTGAATATGAACTCGGAGACCC -3'
Posted On 2021-10-11