Incidental Mutation 'D605:Sfmbt2'
ID574
Institutional Source Beutler Lab
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 #D605 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location10370510-10595253 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 10579325 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 864 (T864I)
Ref Sequence ENSEMBL: ENSMUSP00000040575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041105] [ENSMUST00000116594]
Predicted Effect probably benign
Transcript: ENSMUST00000041105
AA Change: T864I

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: T864I

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 benign
Transcript: ENSMUST00000116594
AA Change: T831I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: T831I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 75.6%
  • 3x: 45.1%
Het Detection Efficiency20.0%
Validation Efficiency 89% (63/71)
Allele List at MGI

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

Other mutations in this stock
Total: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C2cd5 C T 6: 143,029,660 V787I probably benign Het
Kat2b A G 17: 53,629,330 R99G probably damaging Het
Ly75 A G 2: 60,352,352 probably null Het
Olfr1474 T A 19: 13,471,157 C62* probably null 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
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
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
Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at position 2813 of the Sfmbt2 transcript, in exon 21 of 23 total exons (NM_177386). Multiple transcripts of the Sfmbt2 gene are displayed on Ensembl and Vega.  The mutation causes a threonine to isoleucine change at amino acid 831 of the encoded protein (NP_796360).  The mutation has been confirmed by DNA sequencing using the Sanger method (see trace file).

Protein Function and Prediction

The Sfmbt2 gene encodes a 942 amino acid protein that contains four MBT repeats and one SAM (sterile alpha motif) domain at residues 868-931 (Uniprot Q5DTW2). The MBT repeat is found in a number of nuclear proteins involved in transcriptional repression. The SAM domain is a putative protein interaction domain found in a wide variety of proteins.

 

The mutation is predicted to be benign by the PolyPhen-2 program.

Posted On2010-11-29