Mutagenetix > Incidental Mutation

Incidental Mutation 'R7451:Sfmbt1'

577749

Institutional Source

Beutler Lab

Gene Symbol

Sfmbt1

Ensembl Gene

ENSMUSG00000006527

Gene Name

Scm-like with four mbt domains 1

Synonyms

Smr, 4930442N21Rik, 9330180L21Rik

MMRRC Submission

045525-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R7451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30436806-30544678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30538768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 796 (A796T)

Ref Sequence

ENSEMBL: ENSMUSP00000056744 (fasta)

Gene Model

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

AlphaFold

Q9JMD1

Predicted Effect

probably benign
Transcript: ENSMUST00000054230
AA Change: A796T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527
AA Change: A796T

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: A796T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107802
Gene: ENSMUSG00000006527
AA Change: A796T

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 benign
Transcript: ENSMUST00000227303

Predicted Effect

probably benign
Transcript: ENSMUST00000228006
AA Change: A796T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (84/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,148,797 (GRCm39)	I794T	probably damaging	Het
Abcc5	T	A	16: 20,193,820 (GRCm39)	H767L	probably damaging	Het
Adgrb2	A	T	4: 129,908,350 (GRCm39)	M1031L	probably damaging	Het
Akna	T	A	4: 63,296,904 (GRCm39)	M891L	probably benign	Het
Aloxe3	C	A	11: 69,033,746 (GRCm39)	T620K	possibly damaging	Het
Amph	A	G	13: 19,261,538 (GRCm39)	Y63C	probably damaging	Het
Asprv1	A	G	6: 86,605,930 (GRCm39)	I259V	probably benign	Het
Atp7b	C	T	8: 22,504,700 (GRCm39)	W652*	probably null	Het
Atp8a2	C	T	14: 60,028,630 (GRCm39)	D946N	probably null	Het
BC024063	T	A	10: 81,944,576 (GRCm39)	N65K	probably benign	Het
Bean1	A	T	8: 104,940,628 (GRCm39)	M154L	probably benign	Het
Bltp1	G	T	3: 37,076,956 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,570,981 (GRCm39)	V2181M	unknown	Het
Cacna1g	A	G	11: 94,319,901 (GRCm39)	I1425T	probably damaging	Het
Caskin2	A	G	11: 115,702,981 (GRCm39)		probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap97d1	A	T	11: 101,882,283 (GRCm39)	N147I	possibly damaging	Het
Cfd	T	A	10: 79,727,362 (GRCm39)	V43E	probably damaging	Het
Chd9	GCCCC	GCCC	8: 91,760,418 (GRCm39)		probably null	Het
Chd9	T	A	8: 91,760,446 (GRCm39)	S2064T	probably benign	Het
Cpsf2	T	G	12: 101,967,051 (GRCm39)	V646G	possibly damaging	Het
Ctif	T	C	18: 75,652,874 (GRCm39)	D461G	possibly damaging	Het
Cyp3a41a	T	A	5: 145,636,550 (GRCm39)	E414D	probably benign	Het
Dagla	A	G	19: 10,230,719 (GRCm39)	V544A	probably damaging	Het
Dhx57	A	T	17: 80,554,542 (GRCm39)	V1228E	probably damaging	Het
Eif2b3	T	A	4: 116,909,993 (GRCm39)	L176*	probably null	Het
Fbxw26	T	A	9: 109,561,691 (GRCm39)	I168L	probably benign	Het
Flt3	T	A	5: 147,286,477 (GRCm39)	Y703F	probably damaging	Het
Frmpd1	C	T	4: 45,279,558 (GRCm39)	P761L	probably benign	Het
Gabrd	A	G	4: 155,472,916 (GRCm39)	V89A	possibly damaging	Het
Galnt14	A	T	17: 73,881,804 (GRCm39)	H98Q	probably benign	Het
Gli3	T	C	13: 15,900,876 (GRCm39)	V1421A	possibly damaging	Het
Gprin2	A	G	14: 33,917,762 (GRCm39)	S3P	probably damaging	Het
Ifi211	T	G	1: 173,727,058 (GRCm39)	D362A	probably damaging	Het
Lars1	G	T	18: 42,335,615 (GRCm39)	T1167K	probably benign	Het
Lce1b	T	C	3: 92,563,207 (GRCm39)	S109G	unknown	Het
Lrp2	T	G	2: 69,343,677 (GRCm39)	E894A	probably damaging	Het
Mamdc4	A	G	2: 25,454,473 (GRCm39)	V1081A	possibly damaging	Het
Mcub	T	C	3: 129,710,752 (GRCm39)	S227G	possibly damaging	Het
Mki67	A	G	7: 135,301,080 (GRCm39)	I1318T	probably benign	Het
Mybl2	C	T	2: 162,914,626 (GRCm39)	T248I	possibly damaging	Het
Myo9b	A	T	8: 71,804,832 (GRCm39)	H1441L	probably benign	Het
Nav2	T	A	7: 49,202,577 (GRCm39)		probably null	Het
Neb	C	T	2: 52,091,466 (GRCm39)	V5339I	probably benign	Het
Nktr	T	A	9: 121,558,722 (GRCm39)	S88T	probably damaging	Het
Nup155	C	T	15: 8,175,091 (GRCm39)	Q963*	probably null	Het
Oas1c	A	C	5: 120,940,207 (GRCm39)	L320V	possibly damaging	Het
Or10ak14	C	T	4: 118,610,884 (GRCm39)	A286T	probably benign	Het
Or10d1b	G	A	9: 39,613,423 (GRCm39)	T214I	probably damaging	Het
Or1o11	C	A	17: 37,757,196 (GRCm39)	S261R	probably damaging	Het
Or2t46	A	G	11: 58,472,516 (GRCm39)	Y282C	probably damaging	Het
Or4a81	A	G	2: 89,619,453 (GRCm39)	M81T	probably benign	Het
Or52b4i	T	C	7: 102,191,461 (GRCm39)	I106T	probably benign	Het
Pcdhga7	A	G	18: 37,849,057 (GRCm39)	S355G	possibly damaging	Het
Pde11a	C	T	2: 75,853,117 (GRCm39)	V834I	possibly damaging	Het
Pdzrn4	A	T	15: 92,667,948 (GRCm39)	D700V	possibly damaging	Het
Pif1	C	A	9: 65,495,630 (GRCm39)	P180Q	probably benign	Het
Pkig	G	T	2: 163,563,083 (GRCm39)	E5*	probably null	Het
Pla2r1	T	A	2: 60,365,346 (GRCm39)	M75L	probably damaging	Het
Pllp	T	C	8: 95,402,871 (GRCm39)	S157G	probably damaging	Het
Ppfia1	A	T	7: 144,061,947 (GRCm39)	H566Q	probably benign	Het
Ptpn13	A	G	5: 103,674,961 (GRCm39)	D646G	probably benign	Het
Rab11fip5	T	A	6: 85,318,538 (GRCm39)	T784S	probably benign	Het
Rad51ap2	T	G	12: 11,507,982 (GRCm39)	S635A	probably benign	Het
Ranbp17	A	T	11: 33,234,114 (GRCm39)		probably null	Het
Rce1	C	T	19: 4,675,081 (GRCm39)	G111D	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rimbp2	C	T	5: 128,865,435 (GRCm39)	V631I	probably benign	Het
Scai	T	C	2: 39,015,148 (GRCm39)	T94A	probably damaging	Het
Slc6a11	C	A	6: 114,222,644 (GRCm39)	Y546*	probably null	Het
Slc7a2	T	C	8: 41,365,686 (GRCm39)	S506P	probably damaging	Het
Synj2	T	A	17: 6,080,066 (GRCm39)	N1098K	possibly damaging	Het
Tmem177	G	A	1: 119,837,971 (GRCm39)	A236V	probably damaging	Het
Togaram1	T	A	12: 65,043,749 (GRCm39)	D1249E	probably damaging	Het
Trav17	A	T	14: 54,044,096 (GRCm39)	M1L	probably damaging	Het
Trim25	C	A	11: 88,906,563 (GRCm39)	A433D	possibly damaging	Het
Trim69	T	C	2: 121,998,508 (GRCm39)	F160S	probably benign	Het
Trio	A	T	15: 27,747,999 (GRCm39)	V1407E	probably benign	Het
Trpm7	A	T	2: 126,668,657 (GRCm39)	M753K	probably damaging	Het
Ttc12	G	T	9: 49,383,179 (GRCm39)	A75E	probably benign	Het
Uchl4	A	T	9: 64,143,013 (GRCm39)	I165L	probably benign	Het
Uvrag	A	T	7: 98,790,120 (GRCm39)	L13Q	unknown	Het
Wwc2	G	A	8: 48,317,610 (GRCm39)	R656W	not run	Het

Other mutations in Sfmbt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Sfmbt1	APN	14	30,532,268 (GRCm39)	missense	probably damaging	1.00
IGL01351:Sfmbt1	APN	14	30,491,777 (GRCm39)	missense	probably benign	0.00
IGL01478:Sfmbt1	APN	14	30,533,478 (GRCm39)	missense	probably damaging	1.00
IGL01632:Sfmbt1	APN	14	30,539,669 (GRCm39)	missense	probably damaging	1.00
IGL02252:Sfmbt1	APN	14	30,539,690 (GRCm39)	missense	probably damaging	1.00
IGL02456:Sfmbt1	APN	14	30,507,837 (GRCm39)	missense	probably damaging	0.99
IGL02651:Sfmbt1	APN	14	30,537,494 (GRCm39)	missense	probably damaging	1.00
IGL02967:Sfmbt1	APN	14	30,538,759 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Sfmbt1	UTSW	14	30,538,714 (GRCm39)	splice site	probably null
PIT4519001:Sfmbt1	UTSW	14	30,506,148 (GRCm39)	critical splice donor site	probably null
PIT4531001:Sfmbt1	UTSW	14	30,518,283 (GRCm39)	missense	probably benign	0.00
R0043:Sfmbt1	UTSW	14	30,538,764 (GRCm39)	missense	probably damaging	0.99
R0389:Sfmbt1	UTSW	14	30,533,464 (GRCm39)	missense	probably damaging	1.00
R0395:Sfmbt1	UTSW	14	30,509,574 (GRCm39)	splice site	probably benign
R0562:Sfmbt1	UTSW	14	30,533,330 (GRCm39)	splice site	probably null
R1083:Sfmbt1	UTSW	14	30,509,498 (GRCm39)	missense	possibly damaging	0.92
R1900:Sfmbt1	UTSW	14	30,524,524 (GRCm39)	missense	probably damaging	1.00
R2447:Sfmbt1	UTSW	14	30,495,850 (GRCm39)	missense	possibly damaging	0.62
R3104:Sfmbt1	UTSW	14	30,539,753 (GRCm39)	missense	probably damaging	1.00
R3105:Sfmbt1	UTSW	14	30,539,753 (GRCm39)	missense	probably damaging	1.00
R3106:Sfmbt1	UTSW	14	30,539,753 (GRCm39)	missense	probably damaging	1.00
R4038:Sfmbt1	UTSW	14	30,509,449 (GRCm39)	missense	probably damaging	1.00
R5118:Sfmbt1	UTSW	14	30,512,727 (GRCm39)	missense	probably damaging	1.00
R5227:Sfmbt1	UTSW	14	30,537,211 (GRCm39)	critical splice donor site	probably null
R5286:Sfmbt1	UTSW	14	30,538,777 (GRCm39)	missense	probably damaging	1.00
R5287:Sfmbt1	UTSW	14	30,538,777 (GRCm39)	missense	probably damaging	1.00
R5295:Sfmbt1	UTSW	14	30,495,986 (GRCm39)	missense	probably damaging	1.00
R5620:Sfmbt1	UTSW	14	30,506,148 (GRCm39)	critical splice donor site	probably null
R6113:Sfmbt1	UTSW	14	30,537,141 (GRCm39)	missense	possibly damaging	0.68
R6139:Sfmbt1	UTSW	14	30,533,375 (GRCm39)	missense	probably damaging	1.00
R6429:Sfmbt1	UTSW	14	30,495,868 (GRCm39)	missense	probably damaging	1.00
R6657:Sfmbt1	UTSW	14	30,488,053 (GRCm39)	missense	possibly damaging	0.50
R6955:Sfmbt1	UTSW	14	30,487,991 (GRCm39)	start gained	probably benign
R6957:Sfmbt1	UTSW	14	30,509,546 (GRCm39)	missense	probably benign	0.00
R7206:Sfmbt1	UTSW	14	30,533,330 (GRCm39)	splice site	probably null
R7337:Sfmbt1	UTSW	14	30,506,696 (GRCm39)	missense	possibly damaging	0.62
R7684:Sfmbt1	UTSW	14	30,532,311 (GRCm39)	missense	probably damaging	1.00
R7798:Sfmbt1	UTSW	14	30,538,759 (GRCm39)	missense	probably damaging	1.00
R7983:Sfmbt1	UTSW	14	30,519,673 (GRCm39)	splice site	probably null
R8468:Sfmbt1	UTSW	14	30,495,941 (GRCm39)	missense	probably benign
R9342:Sfmbt1	UTSW	14	30,519,599 (GRCm39)	missense	possibly damaging	0.94
R9446:Sfmbt1	UTSW	14	30,506,697 (GRCm39)	missense	possibly damaging	0.95
R9590:Sfmbt1	UTSW	14	30,512,727 (GRCm39)	missense	probably damaging	1.00
R9674:Sfmbt1	UTSW	14	30,495,851 (GRCm39)	missense	probably damaging	0.98
X0064:Sfmbt1	UTSW	14	30,537,162 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGGAATGTCAGTCTCAGG -3'
(R):5'- ATAGACTTAGATTCTGAGGGAACAC -3'

Sequencing Primer
(F):5'- TCAGGACTGAGGCCTGC -3'
(R):5'- CACAGCCATACCCTTGTGG -3'

Posted On

2019-10-07