Incidental Mutation 'IGL02949:Msantd4'
ID364897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd4
Ensembl Gene ENSMUSG00000041124
Gene NameMyb/SANT-like DNA-binding domain containing 4 with coiled-coils
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.284) question?
Stock #IGL02949
Quality Score
Status
Chromosome9
Chromosomal Location4376562-4386870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4385196 bp
ZygosityHeterozygous
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]
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: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
Dpys A G 15: 39,826,883 V358A probably damaging Het
H2-D1 A G 17: 35,264,088 N198S probably benign Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mblac1 T A 5: 138,194,857 C154S probably benign Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Olfr243 A G 7: 103,717,220 I209V probably benign Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srr T G 11: 74,908,737 E304A probably benign Het
Srsf1 A G 11: 88,049,526 probably benign Het
Txnrd2 T G 16: 18,477,706 S473A probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in Msantd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Msantd4 APN 9 4385163 missense probably damaging 1.00
IGL02347:Msantd4 APN 9 4384734 splice site probably benign
IGL02947:Msantd4 APN 9 4384787 missense probably damaging 0.97
FR4548:Msantd4 UTSW 9 4384937 missense possibly damaging 0.50
FR4976:Msantd4 UTSW 9 4384937 missense possibly damaging 0.50
R0006:Msantd4 UTSW 9 4384099 missense probably damaging 1.00
R0436:Msantd4 UTSW 9 4385180 missense probably damaging 0.98
R1403:Msantd4 UTSW 9 4384023 missense probably benign 0.19
R1403:Msantd4 UTSW 9 4384023 missense probably benign 0.19
R1512:Msantd4 UTSW 9 4384138 missense probably benign 0.02
R1639:Msantd4 UTSW 9 4385199 missense probably damaging 1.00
R3819:Msantd4 UTSW 9 4385237 missense probably damaging 1.00
R6021:Msantd4 UTSW 9 4384063 missense probably benign 0.34
R6982:Msantd4 UTSW 9 4384061 missense possibly damaging 0.79
Posted On2015-12-18