Incidental Mutation 'IGL00778:Sfmbt2'
ID13999
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 #IGL00778
Quality Score
Status
Chromosome2
Chromosomal Location10370510-10595253 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10402007 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000040575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041105] [ENSMUST00000114861] [ENSMUST00000114862] [ENSMUST00000114864] [ENSMUST00000116594]
Predicted Effect probably damaging
Transcript: ENSMUST00000041105
AA Change: E39G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: E39G

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 probably damaging
Transcript: ENSMUST00000114861
AA Change: E39G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110511
Gene: ENSMUSG00000061186
AA Change: E39G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114862
AA Change: E39G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110512
Gene: ENSMUSG00000061186
AA Change: E39G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114864
AA Change: E39G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110514
Gene: ENSMUSG00000061186
AA Change: E39G

DomainStartEndE-ValueType
MBT 43 143 2.49e-44 SMART
Predicted Effect unknown
Transcript: ENSMUST00000116594
AA Change: E39G
SMART Domains Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: E39G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126531
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in Sfmbt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02440:Sfmbt2 APN 2 10568383 missense probably damaging 1.00
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 On2012-12-06