Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Sfmbt2'

552795

Institutional Source

Beutler Lab

Gene Symbol

Sfmbt2

Ensembl Gene

ENSMUSG00000061186

Gene Name

Scm-like with four mbt domains 2

Synonyms

D330030P06Rik, D2Wsu23e

MMRRC Submission

045218-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10375321-10600064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10406818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 39 (E39V)

Ref Sequence

ENSEMBL: ENSMUSP00000110512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041105] [ENSMUST00000114861] [ENSMUST00000114862] [ENSMUST00000114864] [ENSMUST00000116594]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041105
AA Change: E39V

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

SMART Domains

Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: E39V

Domain	Start	End	E-Value	Type
MBT	43	143	2.49e-44	SMART
MBT	151	255	2.03e-35	SMART
MBT	265	371	3.6e-27	SMART
MBT	379	475	4.15e-41	SMART
Pfam:DUF3588	528	643	1.4e-37	PFAM
low complexity region	719	738	N/A	INTRINSIC
low complexity region	741	755	N/A	INTRINSIC
low complexity region	853	869	N/A	INTRINSIC
SAM	902	968	1.12e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114861
AA Change: E39V

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

SMART Domains

Protein: ENSMUSP00000110511
Gene: ENSMUSG00000061186
AA Change: E39V

Domain	Start	End	E-Value	Type
MBT	43	143	2.49e-44	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114862
AA Change: E39V

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

SMART Domains

Protein: ENSMUSP00000110512
Gene: ENSMUSG00000061186
AA Change: E39V

Domain	Start	End	E-Value	Type
MBT	43	143	2.49e-44	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114864
AA Change: E39V

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

SMART Domains

Protein: ENSMUSP00000110514
Gene: ENSMUSG00000061186
AA Change: E39V

Domain	Start	End	E-Value	Type
MBT	43	143	2.49e-44	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000116594
AA Change: E39V

SMART Domains

Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: E39V

Domain	Start	End	E-Value	Type
MBT	43	143	2.49e-44	SMART
MBT	151	255	2.03e-35	SMART
MBT	265	371	3.6e-27	SMART
MBT	379	475	4.15e-41	SMART
Pfam:DUF3588	527	646	2.9e-40	PFAM
low complexity region	657	670	N/A	INTRINSIC
low complexity region	686	705	N/A	INTRINSIC
low complexity region	708	722	N/A	INTRINSIC
internal_repeat_2	725	744	1.3e-5	PROSPERO
internal_repeat_2	745	764	1.3e-5	PROSPERO
low complexity region	820	836	N/A	INTRINSIC
SAM	869	935	1.12e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,232 (GRCm39)	C217S	probably damaging	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Fmnl1	T	C	11: 103,072,610 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Peg3	A	T	7: 6,711,944 (GRCm39)	C1093S	probably damaging	Het
Pidd1	T	C	7: 141,019,813 (GRCm39)	S650G	probably benign	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Prpf4b	C	A	13: 35,085,477 (GRCm39)	H974Q	probably benign	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Sbno2	T	C	10: 79,922,146 (GRCm39)	D9G	probably damaging	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Uso1	G	A	5: 92,306,324 (GRCm39)	E94K	probably benign	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	probably damaging	Het

Other mutations in Sfmbt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Sfmbt2	APN	2	10,406,818 (GRCm39)	missense	probably damaging	1.00
IGL01294:Sfmbt2	APN	2	10,595,232 (GRCm39)	splice site	probably benign
IGL01503:Sfmbt2	APN	2	10,584,165 (GRCm39)	nonsense	probably null
IGL01996:Sfmbt2	APN	2	10,444,837 (GRCm39)	missense	probably benign	0.05
IGL02071:Sfmbt2	APN	2	10,582,763 (GRCm39)	missense	probably benign	0.17
IGL02440:Sfmbt2	APN	2	10,573,194 (GRCm39)	missense	probably damaging	1.00
IGL02718:Sfmbt2	APN	2	10,406,842 (GRCm39)	missense	possibly damaging	0.69
IGL03213:Sfmbt2	APN	2	10,409,385 (GRCm39)	missense	probably damaging	1.00
IGL03325:Sfmbt2	APN	2	10,582,628 (GRCm39)	missense	probably damaging	1.00
Supermarket	UTSW	2	10,584,192 (GRCm39)	missense	possibly damaging	0.65
3-1:Sfmbt2	UTSW	2	10,409,277 (GRCm39)	missense	probably damaging	1.00
D605:Sfmbt2	UTSW	2	10,584,136 (GRCm39)	missense	probably benign	0.08
R0919:Sfmbt2	UTSW	2	10,582,382 (GRCm39)	missense	probably benign	0.04
R1180:Sfmbt2	UTSW	2	10,406,877 (GRCm39)	missense	probably damaging	1.00
R2391:Sfmbt2	UTSW	2	10,450,504 (GRCm39)	missense	possibly damaging	0.89
R4208:Sfmbt2	UTSW	2	10,547,793 (GRCm39)	missense	probably damaging	1.00
R4898:Sfmbt2	UTSW	2	10,584,069 (GRCm39)	missense	possibly damaging	0.76
R4928:Sfmbt2	UTSW	2	10,450,556 (GRCm39)	missense	probably benign	0.17
R5643:Sfmbt2	UTSW	2	10,573,184 (GRCm39)	missense	probably damaging	0.99
R5644:Sfmbt2	UTSW	2	10,573,184 (GRCm39)	missense	probably damaging	0.99
R5862:Sfmbt2	UTSW	2	10,406,863 (GRCm39)	missense	possibly damaging	0.57
R5990:Sfmbt2	UTSW	2	10,584,192 (GRCm39)	missense	possibly damaging	0.65
R6721:Sfmbt2	UTSW	2	10,547,836 (GRCm39)	missense	probably damaging	0.99
R7098:Sfmbt2	UTSW	2	10,584,000 (GRCm39)	missense	probably benign	0.04
R7455:Sfmbt2	UTSW	2	10,582,766 (GRCm39)	missense	probably benign	0.04
R7809:Sfmbt2	UTSW	2	10,398,155 (GRCm39)	missense	probably benign	0.02
R8090:Sfmbt2	UTSW	2	10,466,190 (GRCm39)	missense	probably benign	0.01
R8181:Sfmbt2	UTSW	2	10,580,190 (GRCm39)	missense	probably benign	0.09
R8346:Sfmbt2	UTSW	2	10,466,236 (GRCm39)	missense	probably damaging	0.99
R8983:Sfmbt2	UTSW	2	10,409,267 (GRCm39)	missense	probably damaging	0.98
R9226:Sfmbt2	UTSW	2	10,442,860 (GRCm39)	missense	probably benign	0.03
R9640:Sfmbt2	UTSW	2	10,583,994 (GRCm39)	missense	probably damaging	0.99
Z1088:Sfmbt2	UTSW	2	10,583,994 (GRCm39)	missense	probably damaging	1.00
Z1176:Sfmbt2	UTSW	2	10,580,158 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATGGTAACCAATCTGTCTCCCC -3'
(R):5'- AGCTGAGTTTCCAGTTCTCC -3'

Sequencing Primer
(F):5'- AGATCCTGGTCCTTGAACAGC -3'
(R):5'- AGCTGAGTTTCCAGTTCTCCTTCAG -3'

Posted On

2019-05-15