Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Sfmbt1'

405374

Institutional Source

Beutler Lab

Gene Symbol

Sfmbt1

Ensembl Gene

ENSMUSG00000006527

Gene Name

Scm-like with four mbt domains 1

Synonyms

4930442N21Rik, 9330180L21Rik, Smr

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30714849-30822721 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30774029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 90 (D90N)

Ref Sequence

ENSEMBL: ENSMUSP00000153962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054230] [ENSMUST00000112184] [ENSMUST00000227201] [ENSMUST00000227303] [ENSMUST00000228006]

AlphaFold

Q9JMD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054230
AA Change: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: D90N

Domain	Start	End	E-Value	Type
MBT	20	120	2.04e-40	SMART
MBT	128	232	4.22e-33	SMART
MBT	242	346	4.42e-36	SMART
MBT	354	451	7.06e-44	SMART
Pfam:DUF3588	498	617	6.7e-43	PFAM
low complexity region	628	642	N/A	INTRINSIC
low complexity region	659	669	N/A	INTRINSIC
low complexity region	693	749	N/A	INTRINSIC
SAM	790	856	1.12e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112177
AA Change: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: D90N

Domain	Start	End	E-Value	Type
MBT	20	120	2.04e-40	SMART
MBT	128	232	4.22e-33	SMART
MBT	242	346	4.42e-36	SMART
MBT	354	451	7.06e-44	SMART
Pfam:DUF3588	498	617	6.7e-43	PFAM
low complexity region	628	642	N/A	INTRINSIC
low complexity region	659	669	N/A	INTRINSIC
low complexity region	693	749	N/A	INTRINSIC
SAM	790	856	1.12e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112184
AA Change: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: D90N

Domain	Start	End	E-Value	Type
MBT	20	120	2.04e-40	SMART
MBT	128	232	4.22e-33	SMART
MBT	242	346	4.42e-36	SMART
MBT	354	451	7.06e-44	SMART
Pfam:DUF3588	499	614	3.1e-41	PFAM
low complexity region	628	642	N/A	INTRINSIC
low complexity region	659	669	N/A	INTRINSIC
low complexity region	693	749	N/A	INTRINSIC
SAM	790	856	1.12e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128554

Predicted Effect

probably damaging
Transcript: ENSMUST00000131706
AA Change: D90N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117866
Gene: ENSMUSG00000006527
AA Change: D90N

Domain	Start	End	E-Value	Type
MBT	20	120	2.04e-40	SMART
MBT	128	232	4.22e-33	SMART
MBT	242	346	4.42e-36	SMART
MBT	354	451	7.06e-44	SMART
Pfam:DUF3588	498	617	7.3e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227201
AA Change: D90N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227303
AA Change: D90N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227408

Predicted Effect

probably damaging
Transcript: ENSMUST00000228006
AA Change: D90N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,283,874	I148F	probably damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Kcnv1	T	C	15: 45,114,591	D17G	unknown	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	probably benign	Het

Other mutations in Sfmbt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Sfmbt1	APN	14	30810311	missense	probably damaging	1.00
IGL01351:Sfmbt1	APN	14	30769820	missense	probably benign	0.00
IGL01478:Sfmbt1	APN	14	30811521	missense	probably damaging	1.00
IGL01632:Sfmbt1	APN	14	30817712	missense	probably damaging	1.00
IGL02252:Sfmbt1	APN	14	30817733	missense	probably damaging	1.00
IGL02456:Sfmbt1	APN	14	30785880	missense	probably damaging	0.99
IGL02651:Sfmbt1	APN	14	30815537	missense	probably damaging	1.00
IGL02967:Sfmbt1	APN	14	30816802	missense	probably damaging	1.00
PIT4142001:Sfmbt1	UTSW	14	30816757	splice site	probably null
PIT4519001:Sfmbt1	UTSW	14	30784191	critical splice donor site	probably null
PIT4531001:Sfmbt1	UTSW	14	30796326	missense	probably benign	0.00
R0043:Sfmbt1	UTSW	14	30816807	missense	probably damaging	0.99
R0389:Sfmbt1	UTSW	14	30811507	missense	probably damaging	1.00
R0395:Sfmbt1	UTSW	14	30787617	splice site	probably benign
R0562:Sfmbt1	UTSW	14	30811373	splice site	probably null
R1083:Sfmbt1	UTSW	14	30787541	missense	possibly damaging	0.92
R1900:Sfmbt1	UTSW	14	30802567	missense	probably damaging	1.00
R2447:Sfmbt1	UTSW	14	30773893	missense	possibly damaging	0.62
R3104:Sfmbt1	UTSW	14	30817796	missense	probably damaging	1.00
R3105:Sfmbt1	UTSW	14	30817796	missense	probably damaging	1.00
R3106:Sfmbt1	UTSW	14	30817796	missense	probably damaging	1.00
R4038:Sfmbt1	UTSW	14	30787492	missense	probably damaging	1.00
R5118:Sfmbt1	UTSW	14	30790770	missense	probably damaging	1.00
R5227:Sfmbt1	UTSW	14	30815254	critical splice donor site	probably null
R5286:Sfmbt1	UTSW	14	30816820	missense	probably damaging	1.00
R5287:Sfmbt1	UTSW	14	30816820	missense	probably damaging	1.00
R5620:Sfmbt1	UTSW	14	30784191	critical splice donor site	probably null
R6113:Sfmbt1	UTSW	14	30815184	missense	possibly damaging	0.68
R6139:Sfmbt1	UTSW	14	30811418	missense	probably damaging	1.00
R6429:Sfmbt1	UTSW	14	30773911	missense	probably damaging	1.00
R6657:Sfmbt1	UTSW	14	30766096	missense	possibly damaging	0.50
R6955:Sfmbt1	UTSW	14	30766034	start gained	probably benign
R6957:Sfmbt1	UTSW	14	30787589	missense	probably benign	0.00
R7206:Sfmbt1	UTSW	14	30811373	splice site	probably null
R7337:Sfmbt1	UTSW	14	30784739	missense	possibly damaging	0.62
R7451:Sfmbt1	UTSW	14	30816811	missense	probably benign	0.02
R7684:Sfmbt1	UTSW	14	30810354	missense	probably damaging	1.00
R7798:Sfmbt1	UTSW	14	30816802	missense	probably damaging	1.00
R7983:Sfmbt1	UTSW	14	30797716	splice site	probably null
R8468:Sfmbt1	UTSW	14	30773984	missense	probably benign
R9342:Sfmbt1	UTSW	14	30797642	missense	possibly damaging	0.94
R9446:Sfmbt1	UTSW	14	30784740	missense	possibly damaging	0.95
R9590:Sfmbt1	UTSW	14	30790770	missense	probably damaging	1.00
R9674:Sfmbt1	UTSW	14	30773894	missense	probably damaging	0.98
X0064:Sfmbt1	UTSW	14	30815205	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAACACTCATACAATGTTTGTCTGG -3'
(R):5'- GTTCAAAACGTTAGCCTAAAATGC -3'

Sequencing Primer
(F):5'- CTGGTGCCTCATAAAATTGTGTC -3'
(R):5'- CGTTAGCCTAAAATGCTTTGTAAATC -3'

Posted On

2016-07-22