Incidental Mutation 'IGL02440:Sfmbt2'
ID293435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfmbt2
Ensembl Gene ENSMUSG00000061186
Gene NameScm-like with four mbt domains 2
SynonymsD2Wsu23e, D330030P06Rik
Accession Numbers

Genbank: NM_177386; MGI: 2447794

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02440
Quality Score
Status
Chromosome2
Chromosomal Location10370510-10595253 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 10568383 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 574 (A574V)
Ref Sequence ENSEMBL: ENSMUSP00000040575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041105] [ENSMUST00000116594]
Predicted Effect probably damaging
Transcript: ENSMUST00000041105
AA Change: A574V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: A574V

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
MBT 151 255 2.03e-35 SMART
MBT 265 371 3.6e-27 SMART
MBT 379 475 4.15e-41 SMART
Pfam:DUF3588 528 643 1.4e-37 PFAM
low complexity region 719 738 N/A INTRINSIC
low complexity region 741 755 N/A INTRINSIC
low complexity region 853 869 N/A INTRINSIC
SAM 902 968 1.12e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000116594
AA Change: A574V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: A574V

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
MBT 151 255 2.03e-35 SMART
MBT 265 371 3.6e-27 SMART
MBT 379 475 4.15e-41 SMART
Pfam:DUF3588 527 646 2.9e-40 PFAM
low complexity region 657 670 N/A INTRINSIC
low complexity region 686 705 N/A INTRINSIC
low complexity region 708 722 N/A INTRINSIC
internal_repeat_2 725 744 1.3e-5 PROSPERO
internal_repeat_2 745 764 1.3e-5 PROSPERO
low complexity region 820 836 N/A INTRINSIC
SAM 869 935 1.12e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
C2cd6 A G 1: 59,075,100 I182T probably benign Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Ddx25 C T 9: 35,557,678 probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Itln1 C T 1: 171,531,529 A128T probably benign Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr1504 A T 19: 13,887,859 M117K probably damaging Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Prpf40b T C 15: 99,306,866 S263P probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Tbx4 A G 11: 85,890,894 E80G probably damaging Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp691 T G 4: 119,170,296 R246S probably damaging Het
Zfp846 T C 9: 20,588,500 probably benign Het
Other mutations in Sfmbt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Sfmbt2 APN 2 10402007 missense probably damaging 1.00
IGL01294:Sfmbt2 APN 2 10590421 splice site probably benign
IGL01503:Sfmbt2 APN 2 10579354 nonsense probably null
IGL01996:Sfmbt2 APN 2 10440026 missense probably benign 0.05
IGL02071:Sfmbt2 APN 2 10577952 missense probably benign 0.17
IGL02718:Sfmbt2 APN 2 10402031 missense possibly damaging 0.69
IGL03213:Sfmbt2 APN 2 10404574 missense probably damaging 1.00
IGL03325:Sfmbt2 APN 2 10577817 missense probably damaging 1.00
Supermarket UTSW 2 10579381 missense possibly damaging 0.65
3-1:Sfmbt2 UTSW 2 10404466 missense probably damaging 1.00
D605:Sfmbt2 UTSW 2 10579325 missense probably benign 0.08
R0919:Sfmbt2 UTSW 2 10577571 missense probably benign 0.04
R1180:Sfmbt2 UTSW 2 10402066 missense probably damaging 1.00
R2391:Sfmbt2 UTSW 2 10445693 missense possibly damaging 0.89
R4208:Sfmbt2 UTSW 2 10542982 missense probably damaging 1.00
R4898:Sfmbt2 UTSW 2 10579258 missense possibly damaging 0.76
R4928:Sfmbt2 UTSW 2 10445745 missense probably benign 0.17
R5643:Sfmbt2 UTSW 2 10568373 missense probably damaging 0.99
R5644:Sfmbt2 UTSW 2 10568373 missense probably damaging 0.99
R5862:Sfmbt2 UTSW 2 10402052 missense possibly damaging 0.57
R5990:Sfmbt2 UTSW 2 10579381 missense possibly damaging 0.65
R6721:Sfmbt2 UTSW 2 10543025 missense probably damaging 0.99
R7098:Sfmbt2 UTSW 2 10579189 missense probably benign 0.04
R7133:Sfmbt2 UTSW 2 10402007 missense probably damaging 1.00
R7455:Sfmbt2 UTSW 2 10577955 missense probably benign 0.04
R7809:Sfmbt2 UTSW 2 10393344 missense probably benign 0.02
R8090:Sfmbt2 UTSW 2 10461379 missense probably benign 0.01
R8181:Sfmbt2 UTSW 2 10575379 missense probably benign 0.09
R8346:Sfmbt2 UTSW 2 10461425 missense probably damaging 0.99
Z1088:Sfmbt2 UTSW 2 10579183 missense probably damaging 1.00
Z1176:Sfmbt2 UTSW 2 10575347 missense possibly damaging 0.71
Posted On2015-04-16