Mutagenetix > Incidental Mutation

Incidental Mutation 'D605:Sfmbt2'

574

Institutional Source

Beutler Lab

Gene Symbol

Sfmbt2

Ensembl Gene

ENSMUSG00000061186

Gene Name

Scm-like with four mbt domains 2

Synonyms

D330030P06Rik, D2Wsu23e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

D605 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

10375321-10600064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10584136 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

no structure available at present

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 75.6%
3x: 45.1%

Het Detection Efficiency

20.0%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C2cd5	C	T	6: 142,975,386 (GRCm39)	V787I	probably benign	Het
Kat2b	A	G	17: 53,936,358 (GRCm39)	R99G	probably damaging	Het
Ly75	A	G	2: 60,182,696 (GRCm39)		probably null	Het
Or5b118	T	A	19: 13,448,521 (GRCm39)	C62*	probably null	Het

Other mutations in Sfmbt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Sfmbt2	APN	2	10,406,818 (GRCm39)	missense	probably damaging	1.00
IGL01294:Sfmbt2	APN	2	10,595,232 (GRCm39)	splice site	probably benign
IGL01503:Sfmbt2	APN	2	10,584,165 (GRCm39)	nonsense	probably null
IGL01996:Sfmbt2	APN	2	10,444,837 (GRCm39)	missense	probably benign	0.05
IGL02071:Sfmbt2	APN	2	10,582,763 (GRCm39)	missense	probably benign	0.17
IGL02440:Sfmbt2	APN	2	10,573,194 (GRCm39)	missense	probably damaging	1.00
IGL02718:Sfmbt2	APN	2	10,406,842 (GRCm39)	missense	possibly damaging	0.69
IGL03213:Sfmbt2	APN	2	10,409,385 (GRCm39)	missense	probably damaging	1.00
IGL03325:Sfmbt2	APN	2	10,582,628 (GRCm39)	missense	probably damaging	1.00
Supermarket	UTSW	2	10,584,192 (GRCm39)	missense	possibly damaging	0.65
3-1:Sfmbt2	UTSW	2	10,409,277 (GRCm39)	missense	probably damaging	1.00
R0919:Sfmbt2	UTSW	2	10,582,382 (GRCm39)	missense	probably benign	0.04
R1180:Sfmbt2	UTSW	2	10,406,877 (GRCm39)	missense	probably damaging	1.00
R2391:Sfmbt2	UTSW	2	10,450,504 (GRCm39)	missense	possibly damaging	0.89
R4208:Sfmbt2	UTSW	2	10,547,793 (GRCm39)	missense	probably damaging	1.00
R4898:Sfmbt2	UTSW	2	10,584,069 (GRCm39)	missense	possibly damaging	0.76
R4928:Sfmbt2	UTSW	2	10,450,556 (GRCm39)	missense	probably benign	0.17
R5643:Sfmbt2	UTSW	2	10,573,184 (GRCm39)	missense	probably damaging	0.99
R5644:Sfmbt2	UTSW	2	10,573,184 (GRCm39)	missense	probably damaging	0.99
R5862:Sfmbt2	UTSW	2	10,406,863 (GRCm39)	missense	possibly damaging	0.57
R5990:Sfmbt2	UTSW	2	10,584,192 (GRCm39)	missense	possibly damaging	0.65
R6721:Sfmbt2	UTSW	2	10,547,836 (GRCm39)	missense	probably damaging	0.99
R7098:Sfmbt2	UTSW	2	10,584,000 (GRCm39)	missense	probably benign	0.04
R7133:Sfmbt2	UTSW	2	10,406,818 (GRCm39)	missense	probably damaging	1.00
R7455:Sfmbt2	UTSW	2	10,582,766 (GRCm39)	missense	probably benign	0.04
R7809:Sfmbt2	UTSW	2	10,398,155 (GRCm39)	missense	probably benign	0.02
R8090:Sfmbt2	UTSW	2	10,466,190 (GRCm39)	missense	probably benign	0.01
R8181:Sfmbt2	UTSW	2	10,580,190 (GRCm39)	missense	probably benign	0.09
R8346:Sfmbt2	UTSW	2	10,466,236 (GRCm39)	missense	probably damaging	0.99
R8983:Sfmbt2	UTSW	2	10,409,267 (GRCm39)	missense	probably damaging	0.98
R9226:Sfmbt2	UTSW	2	10,442,860 (GRCm39)	missense	probably benign	0.03
R9640:Sfmbt2	UTSW	2	10,583,994 (GRCm39)	missense	probably damaging	0.99
Z1088:Sfmbt2	UTSW	2	10,583,994 (GRCm39)	missense	probably damaging	1.00
Z1176:Sfmbt2	UTSW	2	10,580,158 (GRCm39)	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 On

2010-11-29