Mutagenetix > Incidental Mutation

Incidental Mutation 'R6657:Sfmbt1'

526678

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.756) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30714849-30822721 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30766096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 8 (D8G)

Ref Sequence

ENSEMBL: ENSMUSP00000153962 (fasta)

Gene Model

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

AlphaFold

Q9JMD1

Predicted Effect

probably benign
Transcript: ENSMUST00000054230
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: D8G

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 benign
Transcript: ENSMUST00000112184
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: D8G

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

probably benign
Transcript: ENSMUST00000227201
AA Change: D8G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227303
AA Change: D8G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227408

Predicted Effect

probably benign
Transcript: ENSMUST00000228006
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 105,708,818	L36R	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,416,200	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Chst5	C	T	8: 111,890,274	R238Q	probably benign	Het
Cpxm2	T	C	7: 132,049,077	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,964,994	E405G	possibly damaging	Het
Ctsh	A	T	9: 90,060,502	M37L	probably benign	Het
Eml5	T	G	12: 98,791,405	I1843L	probably damaging	Het
Ep400	C	A	5: 110,693,545		probably benign	Het
Fbln2	A	G	6: 91,259,750	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,370,198	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,758	D230G	possibly damaging	Het
Itga5	T	C	15: 103,350,795	D735G	probably damaging	Het
Kansl2	T	A	15: 98,524,670	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,492,053	M1078K	probably benign	Het
Mmp24	A	T	2: 155,798,179	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,702,500	C743*	probably null	Het
Myh14	T	C	7: 44,637,846	N618D	probably damaging	Het
Myo19	A	T	11: 84,897,196	M324L	probably benign	Het
Nectin2	T	C	7: 19,738,140	N108S	probably benign	Het
Nrg2	A	G	18: 36,196,589	I191T	probably damaging	Het
Odf4	T	C	11: 68,926,812	N18D	probably benign	Het
Olfr1109	T	A	2: 87,093,059	I113F	probably benign	Het
Pcsk2	T	G	2: 143,690,366	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,022	Q894H	probably benign	Het
Pfpl	G	A	19: 12,429,926	V514I	probably benign	Het
Plbd1	A	T	6: 136,617,252	M333K	probably damaging	Het
Plec	A	T	15: 76,178,156	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,614,383	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,759,496	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Sec16a	C	T	2: 26,425,864	W262*	probably null	Het
Sptbn5	T	G	2: 120,076,400		probably benign	Het
Sqor	A	G	2: 122,807,594	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,607,261	T139S	probably benign	Het
Tcp11	G	A	17: 28,071,672	P159S	probably damaging	Het
Tmem262	A	G	19: 6,080,512	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 52,043,783	T50N	probably damaging	Het
Ttll9	T	C	2: 152,984,262	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,702,895	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 10,159,163	T683I	probably damaging	Het
Vps53	A	T	11: 76,134,427	I197N	probably damaging	Het
Washc4	T	A	10: 83,558,618	F269L	possibly damaging	Het
Wdfy4	C	T	14: 33,047,251	V2086M	possibly damaging	Het
Zfp592	A	T	7: 81,025,486	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,250,242	F209S	probably damaging	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
R5295:Sfmbt1	UTSW	14	30774029	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
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'- AACCCAGTCAAATGCTGTCTTATG -3'
(R):5'- AAACAGTAGTGTAGTCCCTAGTGC -3'

Sequencing Primer
(F):5'- CTGGACAGAAACTTGACG -3'
(R):5'- TAGTGCCAAGTTGTAACGCC -3'

Posted On

2018-07-23