Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02252:Sfmbt1'

286462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sfmbt1

Ensembl Gene

ENSMUSG00000006527

Gene Name

Scm-like with four mbt domains 1

Synonyms

4930442N21Rik, 9330180L21Rik, Smr

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

IGL02252

Quality Score

Status

Chromosome

Chromosomal Location

30714849-30822721 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30817733 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 826 (L826P)

Ref Sequence

ENSEMBL: ENSMUSP00000153861 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054230
AA Change: L826P

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

SMART Domains

Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: L826P

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: L826P

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

SMART Domains

Protein: ENSMUSP00000107799
Gene: ENSMUSG00000006527
AA Change: L826P

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: L826P

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

SMART Domains

Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: L826P

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 damaging
Transcript: ENSMUST00000132451
AA Change: L671P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227201

Predicted Effect

probably damaging
Transcript: ENSMUST00000227303
AA Change: L783P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228006
AA Change: L826P

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

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,614,334		probably benign	Het
Actl7b	A	T	4: 56,741,205	I51N	probably damaging	Het
Adamts12	A	G	15: 11,311,015	I1119M	probably benign	Het
Apol10a	T	A	15: 77,488,470	V102D	probably benign	Het
Atrx	T	C	X: 105,845,823	E1628G	possibly damaging	Het
Btnl2	C	T	17: 34,365,390	S429F	possibly damaging	Het
C4bp	C	A	1: 130,636,787	D387Y	probably damaging	Het
Crybg3	G	T	16: 59,552,524		probably benign	Het
Dcaf12	G	T	4: 41,294,085	H351N	probably benign	Het
Fign	A	G	2: 63,980,639	S96P	probably benign	Het
Ggt5	A	G	10: 75,602,732	I96V	possibly damaging	Het
Gm11639	C	A	11: 104,753,927	R1114S	possibly damaging	Het
Gm3238	A	G	10: 77,770,857		probably benign	Het
Gm4792	G	T	10: 94,295,240	P69Q	unknown	Het
Gm5155	G	T	7: 17,910,532	V525F	possibly damaging	Het
Ighv1-58	A	T	12: 115,312,277	N80K	possibly damaging	Het
Ikbkap	G	T	4: 56,759,813	Q1151K	probably benign	Het
Irgm1	C	T	11: 48,866,154	G277S	possibly damaging	Het
Jsrp1	A	G	10: 80,808,873	V233A	probably benign	Het
Kcp	T	A	6: 29,504,549	R85W	probably damaging	Het
Kif14	T	C	1: 136,478,392	Y565H	probably damaging	Het
Klk1b4	G	A	7: 44,210,670	W69*	probably null	Het
Knl1	A	T	2: 119,072,540	Q1574L	probably damaging	Het
Lao1	A	G	4: 118,967,416	N232D	probably benign	Het
Lipn	A	G	19: 34,071,757	I108V	probably benign	Het
Lrrc49	T	A	9: 60,687,859	M1L	probably benign	Het
Matn2	G	T	15: 34,316,590	R26L	probably damaging	Het
Mmp16	G	A	4: 18,110,523	D440N	probably damaging	Het
Mn1	G	A	5: 111,421,241	A1026T	probably damaging	Het
Mrgpra1	A	T	7: 47,335,164	F256I	probably benign	Het
Msantd3	A	C	4: 48,560,869	E148D	probably benign	Het
Mylk3	G	T	8: 85,355,476	L361I	probably benign	Het
Nlrp12	A	G	7: 3,245,350	S117P	probably benign	Het
Nsmaf	T	C	4: 6,398,378	E870G	probably benign	Het
Olfr469	C	A	7: 107,823,146	A108S	probably benign	Het
Olfr854	T	A	9: 19,566,971	I138F	probably damaging	Het
Oplah	T	C	15: 76,304,764	T320A	probably damaging	Het
Pard3	T	G	8: 127,398,756	S729A	probably benign	Het
Pdzd9	T	C	7: 120,663,015	I75V	probably benign	Het
Pgf	A	G	12: 85,169,425		probably benign	Het
Phf1	T	A	17: 26,935,135	V140D	possibly damaging	Het
Pkd1l3	T	C	8: 109,631,076	S775P	possibly damaging	Het
Rhobtb1	A	T	10: 69,249,685	T85S	probably damaging	Het
Sez6	T	A	11: 77,974,513	Y659N	probably damaging	Het
Sftpd	T	A	14: 41,172,514	D316V	probably damaging	Het
Shc2	T	C	10: 79,626,370	D313G	probably benign	Het
Snrk	T	C	9: 122,157,260	Y232H	probably damaging	Het
Sntg1	G	T	1: 8,414,228	P456Q	probably benign	Het
Sorbs1	A	T	19: 40,314,397	N783K	probably damaging	Het
Stag3	A	T	5: 138,302,548	I923F	probably damaging	Het
Tep1	T	A	14: 50,830,255	H2168L	possibly damaging	Het
Tmem132c	A	T	5: 127,462,927	N339I	possibly damaging	Het
Trim34b	A	G	7: 104,329,932	T129A	probably damaging	Het
Ttc21a	T	C	9: 119,956,928	L664P	probably damaging	Het
Ubl5	C	T	9: 20,645,627	R56*	probably null	Het
Ubox5	G	A	2: 130,599,787	R327W	probably damaging	Het
Ubr5	G	T	15: 38,024,894	A546E	probably damaging	Het
Umodl1	T	C	17: 30,994,815		probably null	Het
Unc45a	T	C	7: 80,332,969		probably benign	Het
Vmn1r236	C	T	17: 21,286,839	T73I	probably benign	Het
Vmn2r67	T	G	7: 85,155,800	N35H	probably benign	Het
Vmn2r74	A	G	7: 85,957,323	Y272H	probably benign	Het
Wdr43	T	A	17: 71,626,850	D147E	probably damaging	Het
Zfp352	A	T	4: 90,224,130	D169V	probably benign	Het
Zim1	A	T	7: 6,688,628	N15K	unknown	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
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	unclassified	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	intron	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	intron	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
X0064:Sfmbt1	UTSW	14	30815205	missense	probably damaging	1.00

Posted On

2015-04-16