Mutagenetix > Incidental Mutation

Incidental Mutation 'R8468:Sfmbt1'

656927

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?

Possibly essential (E-score: 0.710) question?

Stock #

R8468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30714849-30822721 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30773984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 75 (A75T)

Ref Sequence

ENSEMBL: ENSMUSP00000153861 (fasta)

Gene Model

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

AlphaFold

Q9JMD1

Predicted Effect

probably benign
Transcript: ENSMUST00000054230
AA Change: A75T

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

SMART Domains

Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: A75T

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: A75T

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

SMART Domains

Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: A75T

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: A75T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227303
AA Change: A75T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228006
AA Change: A75T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (36/36)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	G	16: 85,795,556	W655R	possibly damaging	Het
Adamts3	C	T	5: 89,694,768	A748T	probably benign	Het
Ano1	A	C	7: 144,655,620	F248C	probably damaging	Het
Ap2b1	T	A	11: 83,351,065	L628Q	probably damaging	Het
BC035947	C	A	1: 78,498,330	A522S	probably damaging	Het
Bdp1	A	G	13: 100,060,568	V1103A	probably benign	Het
Cd248	T	A	19: 5,069,882	I586N	possibly damaging	Het
Dnah9	C	A	11: 65,831,730	M4428I	probably benign	Het
Epha5	T	C	5: 84,142,416		probably null	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fastkd2	T	A	1: 63,731,764	L93Q	probably benign	Het
Gm6665	T	C	18: 31,820,400	D5G	possibly damaging	Het
Gphn	T	C	12: 78,226,827	V17A	probably benign	Het
Gpr85	A	T	6: 13,836,296	L203H	probably damaging	Het
Grk6	A	G	13: 55,451,385	Y166C	probably damaging	Het
Ints3	A	G	3: 90,406,253	V356A	probably damaging	Het
Krt33b	G	A	11: 100,029,789	R13C	probably damaging	Het
Lgals3	A	G	14: 47,381,647	I146V	possibly damaging	Het
Lrp1	G	A	10: 127,558,650	R2565C	probably damaging	Het
Miip	G	T	4: 147,861,471	D325E	probably damaging	Het
Naaladl1	T	A	19: 6,108,585	V249E	probably damaging	Het
Nfxl1	C	T	5: 72,518,205	R811K	possibly damaging	Het
Olfr1145	T	C	2: 87,810,738	I306T	possibly damaging	Het
Olfr676	A	T	7: 105,035,746	I183F	probably damaging	Het
Olfr681	A	G	7: 105,121,478	D7G	probably benign	Het
Olfr701	A	G	7: 106,818,839	Y252C	possibly damaging	Het
Olfr822	C	T	10: 130,074,434	T8I	probably benign	Het
Olfr994	T	A	2: 85,430,178	Y217F	probably damaging	Het
Pkd2l2	A	G	18: 34,427,411	D357G	possibly damaging	Het
Ppp1r36	A	G	12: 76,436,205	Y189C	probably damaging	Het
Rev3l	A	G	10: 39,827,991	E2011G	probably damaging	Het
Sestd1	T	A	2: 77,191,746	T534S	probably benign	Het
Smarcc2	G	A	10: 128,484,393	R882H	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Speg	C	T	1: 75,431,309	A3216V	probably damaging	Het
Vmn1r12	A	G	6: 57,159,385	T112A	probably benign	Het
Zfp937	T	G	2: 150,238,714	D221E	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
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
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
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'- ATTTCTCGGGTTTACCTTGAGAAG -3'
(R):5'- GTGAACTGAAAAGCTTAAGATTGGCC -3'

Sequencing Primer
(F):5'- CTGGCAATTAGTGTTTCAGAAATG -3'
(R):5'- ATTGGCCAATCTAAATAGTCTTACAG -3'

Posted On

2021-01-18