Incidental Mutation 'IGL02009:Msantd2'
ID182270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msantd2
Ensembl Gene ENSMUSG00000042138
Gene NameMyb/SANT-like DNA-binding domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL02009
Quality Score
Status
Chromosome9
Chromosomal Location37489319-37524625 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37523390 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 309 (F309L)
Ref Sequence ENSEMBL: ENSMUSP00000148195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002011] [ENSMUST00000048604] [ENSMUST00000211060] [ENSMUST00000214298]
Predicted Effect probably benign
Transcript: ENSMUST00000002011
SMART Domains Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IG 39 153 4.82e-6 SMART
IGc2 168 234 1.17e-4 SMART
transmembrane domain 252 274 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048604
AA Change: F510L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000043329
Gene: ENSMUSG00000042138
AA Change: F510L

DomainStartEndE-ValueType
low complexity region 46 98 N/A INTRINSIC
Pfam:Myb_DNA-bind_4 101 199 1.9e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211060
AA Change: F309L

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213411
Predicted Effect probably benign
Transcript: ENSMUST00000214298
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik C T 5: 31,487,491 T196I probably benign Het
Aldh1a3 T C 7: 66,402,041 D388G probably benign Het
Ankhd1 C A 18: 36,624,661 Q803K probably damaging Het
Arrdc3 A G 13: 80,893,380 N180S probably benign Het
Atp11b G A 3: 35,814,152 E458K probably benign Het
Bend6 G A 1: 33,862,746 A185V probably benign Het
C530008M17Rik A G 5: 76,848,970 T92A possibly damaging Het
Chd5 A G 4: 152,366,213 D632G probably damaging Het
Clec4a1 A T 6: 122,932,216 H181L probably benign Het
Cntnap5a T A 1: 116,157,494 D387E probably benign Het
Colq G A 14: 31,535,642 S256F possibly damaging Het
Ctdp1 A G 18: 80,455,972 Y252H probably damaging Het
Cyp4f17 T A 17: 32,524,880 L344Q probably damaging Het
Fam83b A G 9: 76,492,322 Y500H probably damaging Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gp5 A G 16: 30,309,664 I64T probably benign Het
Il31ra A G 13: 112,533,867 V248A probably damaging Het
Kdm4a C T 4: 118,160,169 A567T probably benign Het
Kpna7 T C 5: 144,994,078 probably null Het
Lrrc8c G A 5: 105,607,391 R344H probably damaging Het
Man1a G A 10: 53,925,525 L413F probably damaging Het
Man1a2 A T 3: 100,684,662 D67E probably damaging Het
Mkln1 G A 6: 31,449,520 S243N probably benign Het
Mmp19 T A 10: 128,798,487 M299K probably benign Het
Mstn A G 1: 53,062,150 probably benign Het
Nat8f5 A C 6: 85,817,426 I184R probably benign Het
Olfr1160 G T 2: 88,006,773 Q2K probably benign Het
Olfr1173 C T 2: 88,274,712 M112I probably benign Het
Pigc A G 1: 161,970,565 K39E probably damaging Het
Pms2 T A 5: 143,925,764 L563Q probably benign Het
Rpap1 A G 2: 119,780,113 S162P possibly damaging Het
Rpl3l A G 17: 24,732,433 K103E probably damaging Het
Slc45a1 A T 4: 150,637,990 V479E probably damaging Het
Themis2 A T 4: 132,785,442 L491Q probably damaging Het
Vmn2r17 A T 5: 109,452,848 I671L possibly damaging Het
Vmn2r6 C A 3: 64,537,902 V712L possibly damaging Het
Zzz3 A G 3: 152,428,115 D270G possibly damaging Het
Other mutations in Msantd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Msantd2 APN 9 37523549 unclassified probably benign
IGL01602:Msantd2 APN 9 37517440 missense probably benign 0.17
IGL01604:Msantd2 APN 9 37522848 missense probably benign 0.29
IGL02377:Msantd2 APN 9 37523306 missense possibly damaging 0.92
IGL02406:Msantd2 APN 9 37523459 missense probably damaging 1.00
IGL02869:Msantd2 APN 9 37523500 missense probably damaging 1.00
R0281:Msantd2 UTSW 9 37523219 missense possibly damaging 0.56
R0335:Msantd2 UTSW 9 37522760 missense possibly damaging 0.91
R1135:Msantd2 UTSW 9 37522712 missense probably damaging 0.96
R2120:Msantd2 UTSW 9 37522931 missense probably damaging 1.00
R2124:Msantd2 UTSW 9 37522931 missense probably damaging 1.00
R2293:Msantd2 UTSW 9 37489804 missense probably damaging 0.96
R2982:Msantd2 UTSW 9 37523343 missense probably damaging 0.99
R4680:Msantd2 UTSW 9 37523091 missense probably damaging 1.00
R4974:Msantd2 UTSW 9 37489379 missense possibly damaging 0.66
R5153:Msantd2 UTSW 9 37523213 nonsense probably null
R5326:Msantd2 UTSW 9 37517259 missense probably damaging 1.00
R5542:Msantd2 UTSW 9 37517259 missense probably damaging 1.00
R6047:Msantd2 UTSW 9 37523442 missense probably damaging 1.00
R6958:Msantd2 UTSW 9 37523457 missense probably damaging 1.00
R7236:Msantd2 UTSW 9 37489669 missense probably damaging 1.00
R7417:Msantd2 UTSW 9 37523294 missense probably damaging 1.00
Posted On2014-05-07