Mutagenetix > Incidental Mutation

Incidental Mutation 'R8346:Sfmbt2'

645213

Institutional Source

Beutler Lab

Gene Symbol

Sfmbt2

Ensembl Gene

ENSMUSG00000061186

Gene Name

Scm-like with four mbt domains 2

Synonyms

D330030P06Rik, D2Wsu23e

MMRRC Submission

067802-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8346 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10375321-10600064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10466236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 357 (P357Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112293 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041105
AA Change: P357Q

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

SMART Domains

Protein: ENSMUSP00000040575
Gene: ENSMUSG00000061186
AA Change: P357Q

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: ENSMUST00000116594
AA Change: P357Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112293
Gene: ENSMUSG00000061186
AA Change: P357Q

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	G	14: 59,380,221 (GRCm39)	S26P	probably damaging	Het
Aco1	T	A	4: 40,177,876 (GRCm39)	M299K	probably damaging	Het
Acox1	G	T	11: 116,069,099 (GRCm39)	T382N	possibly damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
App	G	T	16: 84,900,145 (GRCm39)	R102S	unknown	Het
Chd1l	T	C	3: 97,469,959 (GRCm39)	N856D	probably benign	Het
Col11a1	A	G	3: 114,005,818 (GRCm39)	D1650G	unknown	Het
Cx3cl1	T	C	8: 95,507,168 (GRCm39)	V391A	probably damaging	Het
Cyp11b2	T	C	15: 74,723,617 (GRCm39)	Y378C	probably damaging	Het
Cyp26b1	T	C	6: 84,554,150 (GRCm39)	S156G	probably benign	Het
Cyp3a11	C	T	5: 145,795,612 (GRCm39)	M446I	probably damaging	Het
D7Ertd443e	G	A	7: 133,950,485 (GRCm39)	T396I	possibly damaging	Het
Dusp4	C	A	8: 35,275,092 (GRCm39)	N70K	possibly damaging	Het
Dync1h1	G	A	12: 110,632,226 (GRCm39)	A4499T	probably benign	Het
Eno2	T	C	6: 124,740,758 (GRCm39)	D266G	possibly damaging	Het
Eomes	T	C	9: 118,314,036 (GRCm39)	S694P	probably benign	Het
Fmo4	A	G	1: 162,621,792 (GRCm39)	V473A	probably benign	Het
Fmo5	T	A	3: 97,552,962 (GRCm39)	N303K	probably damaging	Het
Garin1b	G	A	6: 29,334,030 (GRCm39)	C296Y	probably damaging	Het
Gdf10	A	G	14: 33,653,802 (GRCm39)	E103G	probably benign	Het
Gjb6	T	C	14: 57,362,259 (GRCm39)	M1V	probably null	Het
Gm17067	A	G	7: 42,358,073 (GRCm39)	L143P	probably damaging	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hmgn3	T	C	9: 82,993,159 (GRCm39)	K50E	probably damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ighv2-2	A	T	12: 113,552,189 (GRCm39)	C16*	probably null	Het
Kidins220	T	G	12: 25,086,533 (GRCm39)	F989C	probably damaging	Het
Krtap28-13	A	G	1: 83,039,086 (GRCm39)	K124E	unknown	Het
Mast4	A	G	13: 102,887,986 (GRCm39)	V1141A	probably damaging	Het
Myb	A	T	10: 21,002,136 (GRCm39)	M735K	probably benign	Het
Myo3a	T	A	2: 22,448,434 (GRCm39)		probably null	Het
Naa60	G	A	16: 3,718,507 (GRCm39)	G113D	probably damaging	Het
Nfatc1	T	C	18: 80,725,382 (GRCm39)	I461V	probably benign	Het
Nphp4	C	A	4: 152,645,778 (GRCm39)	A1262D	probably damaging	Het
Obscn	A	T	11: 58,976,007 (GRCm39)	V2040E	possibly damaging	Het
Or1j4	A	G	2: 36,740,351 (GRCm39)	I98V	probably benign	Het
Or9a2	A	G	6: 41,749,057 (GRCm39)	Y59H	probably damaging	Het
Ormdl1	T	A	1: 53,344,626 (GRCm39)	F63I	possibly damaging	Het
Otulinl	A	G	15: 27,664,644 (GRCm39)	Y76H	probably damaging	Het
Phc1	C	T	6: 122,302,774 (GRCm39)	V250M	probably damaging	Het
Pik3c2b	G	A	1: 133,017,984 (GRCm39)	V949M	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prmt8	T	A	6: 127,688,810 (GRCm39)	M187L	probably damaging	Het
Ptpn3	T	C	4: 57,225,547 (GRCm39)	I513V	probably damaging	Het
Rad17	A	C	13: 100,781,681 (GRCm39)	S39A	possibly damaging	Het
Rbck1	T	C	2: 152,160,700 (GRCm39)	Y412C	probably damaging	Het
Rfc3	C	A	5: 151,569,100 (GRCm39)	M152I	probably damaging	Het
Scn11a	C	A	9: 119,608,047 (GRCm39)	C1028F	probably damaging	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Stmnd1	A	G	13: 46,452,936 (GRCm39)	N204S	probably benign	Het
Tdrd1	T	C	19: 56,830,699 (GRCm39)	V244A	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r25	T	C	6: 123,802,350 (GRCm39)	T518A	probably benign	Het
Xdh	T	C	17: 74,220,938 (GRCm39)	D597G	probably damaging	Het
Zfp457	G	A	13: 67,441,862 (GRCm39)	Q238*	probably null	Het
Zfp647	T	C	15: 76,795,928 (GRCm39)	D244G	probably damaging	Het
Zfp870	T	A	17: 33,102,843 (GRCm39)	E162V	possibly 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
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
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
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'- ACTGAAATGCTGGTTTGTGCTATAG -3'
(R):5'- TGCATGGCAGGTCAATTCAC -3'

Sequencing Primer
(F):5'- CAATTCGATAGGATATGTTCAGTGTC -3'
(R):5'- TGGCAGGTCAATTCACACTGC -3'

Posted On

2020-09-02