Mutagenetix > Incidental Mutation

Incidental Mutation 'R8090:Sfmbt2'

629872

Institutional Source

Beutler Lab

Gene Symbol

Sfmbt2

Ensembl Gene

ENSMUSG00000061186

Gene Name

Scm-like with four mbt domains 2

Synonyms

D330030P06Rik, D2Wsu23e

MMRRC Submission

067523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8090 (G1)

Quality Score

108.008

Status

Validated

Chromosome

Chromosomal Location

10375321-10600064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10466190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 342 (D342N)

Ref Sequence

ENSEMBL: ENSMUSP00000112293 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041105
AA Change: D342N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: D342N

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 benign
Transcript: ENSMUST00000116594
AA Change: D342N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: D342N

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 92.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

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

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	T	C	11: 116,487,017 (GRCm39)	C75R	probably damaging	Het
Ackr2	A	G	9: 121,738,045 (GRCm39)	D140G	possibly damaging	Het
Adgrv1	C	A	13: 81,596,953 (GRCm39)		probably null	Het
Arpp21	A	G	9: 111,945,769 (GRCm39)	L593S	unknown	Het
Atn1	G	A	6: 124,722,304 (GRCm39)	P850S	unknown	Het
Capn13	G	A	17: 73,689,849 (GRCm39)	S54L	probably benign	Het
Cd1d2	C	T	3: 86,893,964 (GRCm39)	P5S	possibly damaging	Het
Cgn	A	G	3: 94,687,263 (GRCm39)	V13A	probably damaging	Het
Clint1	T	C	11: 45,778,267 (GRCm39)	V136A	probably damaging	Het
Cox5a	T	A	9: 57,436,346 (GRCm39)	L66M	probably damaging	Het
Crb2	G	T	2: 37,685,503 (GRCm39)	C1205F	probably damaging	Het
Ddx3y	C	T	Y: 1,264,897 (GRCm39)	S519N	probably benign	Het
Defb50	G	A	8: 22,321,087 (GRCm39)	G26S	probably damaging	Het
Dock8	T	C	19: 25,131,606 (GRCm39)	L1112P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Gm9837	A	G	11: 53,361,065 (GRCm39)	S50P	unknown	Het
Gon4l	A	G	3: 88,799,931 (GRCm39)	I859V	probably damaging	Het
Grin3a	A	T	4: 49,714,224 (GRCm39)	D840E	probably damaging	Het
Ifit2	T	A	19: 34,550,662 (GRCm39)	N67K	possibly damaging	Het
Il17re	G	A	6: 113,439,250 (GRCm39)	W53*	probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Krt25	T	A	11: 99,207,416 (GRCm39)		probably null	Het
Krt26	T	C	11: 99,227,315 (GRCm39)	M171V	probably benign	Het
Lrba	T	C	3: 86,255,796 (GRCm39)	L1046S	probably benign	Het
Lrp2	G	T	2: 69,295,089 (GRCm39)	P3410T	possibly damaging	Het
Madd	T	C	2: 90,985,968 (GRCm39)	K1241R	probably benign	Het
Mcm8	T	G	2: 132,673,569 (GRCm39)	S402A	probably benign	Het
Mpc1	A	C	17: 8,515,705 (GRCm39)	Q74H	probably benign	Het
Mroh4	A	G	15: 74,496,550 (GRCm39)	V279A	probably benign	Het
Muc21	G	C	17: 35,932,617 (GRCm39)	T523S	unknown	Het
Ndufs2	A	T	1: 171,064,247 (GRCm39)	H380Q	probably damaging	Het
Nkx2-6	T	C	14: 69,409,465 (GRCm39)	L72P	possibly damaging	Het
Nme6	T	A	9: 109,671,019 (GRCm39)	L73*	probably null	Het
Odf2l	G	T	3: 144,832,796 (GRCm39)	A85S	probably damaging	Het
Or51ac3	A	T	7: 103,214,048 (GRCm39)	I146K	probably benign	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Plpp6	C	T	19: 28,942,271 (GRCm39)	Q291*	probably null	Het
Plxnd1	G	A	6: 115,933,578 (GRCm39)	A1855V	probably damaging	Het
Ptcd1	A	T	5: 145,096,345 (GRCm39)	H249Q	possibly damaging	Het
Rnf149	C	A	1: 39,616,304 (GRCm39)	A18S	unknown	Het
Scara5	C	T	14: 65,979,586 (GRCm39)	R368*	probably null	Het
Shank3	T	A	15: 89,389,661 (GRCm39)		probably null	Het
Slc22a27	A	G	19: 7,843,101 (GRCm39)		probably null	Het
Srgap3	G	T	6: 112,757,996 (GRCm39)	Y170*	probably null	Het
Szt2	A	T	4: 118,244,199 (GRCm39)		probably null	Het
Tbccd1	A	G	16: 22,660,805 (GRCm39)	S4P	probably benign	Het
Tcf20	A	G	15: 82,740,207 (GRCm39)	S415P	probably damaging	Het
Tdrd9	T	C	12: 111,982,369 (GRCm39)	S487P	probably damaging	Het
Trim26	A	G	17: 37,167,640 (GRCm39)	Q300R	possibly damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yif1b	A	G	7: 28,943,726 (GRCm39)	N93S	probably benign	Het
Zdhhc22	C	A	12: 87,030,394 (GRCm39)	V185F	probably benign	Het
Zfp638	G	T	6: 83,906,801 (GRCm39)	S322I	probably damaging	Het
Zfp786	T	A	6: 47,796,943 (GRCm39)	H665L	probably damaging	Het
Zfp799	C	T	17: 33,039,949 (GRCm39)	V106I	probably benign	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
R7133:Sfmbt2	UTSW	2	10,406,818 (GRCm39)	missense	probably damaging	1.00
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
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'- CAGTGATTGGTACTGAAATGCTGG -3'
(R):5'- TTCACACTGCAACTTGTCCAG -3'

Sequencing Primer
(F):5'- ACTGAAATGCTGGTTTGTGCTATAG -3'
(R):5'- CTTGTCCAGGTAAACATGATGACGTC -3'

Posted On

2020-06-30