Incidental Mutation 'IGL02949:Msantd4'
ID 364897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd4
Ensembl Gene ENSMUSG00000041124
Gene Name Myb/SANT-like DNA-binding domain containing 4 with coiled-coils
Synonyms 8430410K20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # IGL02949
Quality Score
Status
Chromosome 9
Chromosomal Location 4376562-4386870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4385196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 307 (L307Q)
Ref Sequence ENSEMBL: ENSMUSP00000148805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047173] [ENSMUST00000212075]
AlphaFold Q91YU3
Predicted Effect probably damaging
Transcript: ENSMUST00000047173
AA Change: L307Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038267
Gene: ENSMUSG00000041124
AA Change: L307Q

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_5 8 86 7.6e-26 PFAM
low complexity region 154 162 N/A INTRINSIC
coiled coil region 202 344 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212075
AA Change: L307Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,344,490 (GRCm39) V89I probably damaging Het
Abhd5 T C 9: 122,206,980 (GRCm39) F89L possibly damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
B4galt2 C T 4: 117,738,602 (GRCm39) A72T probably benign Het
Ccdc141 T C 2: 76,857,938 (GRCm39) Y1081C probably damaging Het
Coq8b T C 7: 26,956,038 (GRCm39) V405A possibly damaging Het
Ddah2 A G 17: 35,280,776 (GRCm39) K251E probably damaging Het
Dnah5 T C 15: 28,272,331 (GRCm39) V1045A probably benign Het
Dpy19l1 A T 9: 24,332,476 (GRCm39) M662K probably benign Het
Dpys A G 15: 39,690,279 (GRCm39) V358A probably damaging Het
H2-D1 A G 17: 35,483,064 (GRCm39) N198S probably benign Het
Hnrnpa1 T C 15: 103,150,538 (GRCm39) V163A probably damaging Het
Hr C T 14: 70,797,225 (GRCm39) R543C possibly damaging Het
Lct C T 1: 128,240,869 (GRCm39) V245M probably benign Het
Lpl G A 8: 69,345,400 (GRCm39) V135M probably damaging Het
Mblac1 T A 5: 138,193,119 (GRCm39) C154S probably benign Het
Mmp9 T C 2: 164,793,039 (GRCm39) F396S probably damaging Het
Mroh1 A T 15: 76,293,168 (GRCm39) H314L probably damaging Het
Nol8 A G 13: 49,815,878 (GRCm39) D662G probably benign Het
Nynrin G A 14: 56,109,837 (GRCm39) S1648N probably damaging Het
Or52a20 A G 7: 103,366,427 (GRCm39) I209V probably benign Het
Plcb2 C T 2: 118,549,590 (GRCm39) probably null Het
Scyl2 T A 10: 89,496,163 (GRCm39) N229I possibly damaging Het
Spryd3 C T 15: 102,026,544 (GRCm39) E376K probably benign Het
Srr T G 11: 74,799,563 (GRCm39) E304A probably benign Het
Srsf1 A G 11: 87,940,352 (GRCm39) probably benign Het
Txnrd2 T G 16: 18,296,456 (GRCm39) S473A probably benign Het
Wdr18 T A 10: 79,800,889 (GRCm39) C151S probably benign Het
Zfp282 C T 6: 47,874,848 (GRCm39) T351I probably damaging Het
Other mutations in Msantd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Msantd4 APN 9 4,385,163 (GRCm39) missense probably damaging 1.00
IGL02347:Msantd4 APN 9 4,384,734 (GRCm39) splice site probably benign
IGL02947:Msantd4 APN 9 4,384,787 (GRCm39) missense probably damaging 0.97
FR4548:Msantd4 UTSW 9 4,384,937 (GRCm39) missense possibly damaging 0.50
FR4976:Msantd4 UTSW 9 4,384,937 (GRCm39) missense possibly damaging 0.50
R0006:Msantd4 UTSW 9 4,384,099 (GRCm39) missense probably damaging 1.00
R0436:Msantd4 UTSW 9 4,385,180 (GRCm39) missense probably damaging 0.98
R1403:Msantd4 UTSW 9 4,384,023 (GRCm39) missense probably benign 0.19
R1403:Msantd4 UTSW 9 4,384,023 (GRCm39) missense probably benign 0.19
R1512:Msantd4 UTSW 9 4,384,138 (GRCm39) missense probably benign 0.02
R1639:Msantd4 UTSW 9 4,385,199 (GRCm39) missense probably damaging 1.00
R3819:Msantd4 UTSW 9 4,385,237 (GRCm39) missense probably damaging 1.00
R6021:Msantd4 UTSW 9 4,384,063 (GRCm39) missense probably benign 0.34
R6982:Msantd4 UTSW 9 4,384,061 (GRCm39) missense possibly damaging 0.79
R8166:Msantd4 UTSW 9 4,384,095 (GRCm39) missense possibly damaging 0.95
R8753:Msantd4 UTSW 9 4,385,013 (GRCm39) missense probably damaging 0.99
R9510:Msantd4 UTSW 9 4,385,007 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18