Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Sfmbt1'

263075

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

040580-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30714849-30822721 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30817796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 847 (C847Y)

Ref Sequence

ENSEMBL: ENSMUSP00000153861 (fasta)

Gene Model

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

AlphaFold

Q9JMD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054230
AA Change: C847Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: C847Y

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: C847Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: C847Y

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: C847Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: C847Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227303
AA Change: C804Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228006
AA Change: C847Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2501

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	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
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
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'- CAGGGTAGCAGACTATGGTTC -3'
(R):5'- GTGCAAAGATAGCAAGCCAC -3'

Sequencing Primer
(F):5'- AGCAGACTATGGTTCTTTTCAAAGGG -3'
(R):5'- ACCACTTGCAGGCCGACAG -3'

Posted On

2015-02-05