Mutagenetix > Incidental Mutation

Incidental Mutation 'RF005:Sbf2'

602758

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

RF005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109907220-110214129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109916215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1552 (D1552V)

Ref Sequence

ENSEMBL: ENSMUSP00000033058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033058] [ENSMUST00000164759] [ENSMUST00000166020]

AlphaFold

E9PXF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000033058
AA Change: D1552V

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

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: D1552V

Domain	Start	End	E-Value	Type
uDENN	1	87	2.27e-33	SMART
DENN	116	298	5.68e-75	SMART
dDENN	351	420	2e-20	SMART
Pfam:SBF2	530	752	3.3e-106	PFAM
GRAM	869	955	1.3e-12	SMART
low complexity region	1078	1089	N/A	INTRINSIC
Pfam:Myotub-related	1091	1544	8.3e-86	PFAM
PH	1767	1872	3.05e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164759
AA Change: D1527V

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

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: D1527V

Domain	Start	End	E-Value	Type
uDENN	1	87	2.27e-33	SMART
DENN	116	298	5.68e-75	SMART
dDENN	351	420	2e-20	SMART
Pfam:SBF2	528	752	1.6e-107	PFAM
GRAM	869	955	1.3e-12	SMART
Pfam:Myotub-related	1089	1521	1.6e-98	PFAM
PH	1742	1847	3.05e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166020
AA Change: D1506V

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

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: D1506V

Domain	Start	End	E-Value	Type
uDENN	1	75	9.26e-1	SMART
DENN	70	252	5.68e-75	SMART
dDENN	305	374	2e-20	SMART
Pfam:SBF2	482	706	1.6e-107	PFAM
GRAM	823	909	1.3e-12	SMART
Pfam:Myotub-related	1043	1500	5.9e-98	PFAM
PH	1721	1826	3.05e-18	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted, other(2) Gene trapped(9)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,847 (GRCm39)		probably benign	Het
A030005L19Rik	CTGCTG	CTGCTGTGGATGCTG	1: 82,891,306 (GRCm39)		probably benign	Het
Abca1	G	T	4: 53,049,125 (GRCm39)	T1651N	probably damaging	Het
Adamtsl3	A	G	7: 82,261,603 (GRCm39)	T40A		Het
Adgra3	A	T	5: 50,170,729 (GRCm39)		probably null	Het
Apcs	A	T	1: 172,721,809 (GRCm39)	M179K	probably damaging	Het
Baiap2	G	A	11: 119,887,355 (GRCm39)	E217K	possibly damaging	Het
Bltp3a	A	T	17: 28,104,505 (GRCm39)	D517V	probably damaging	Het
Ccdc69	A	G	11: 54,951,349 (GRCm39)	L24P	probably damaging	Het
Cdh16	T	G	8: 105,343,684 (GRCm39)	N604T	probably damaging	Het
Cfb	C	T	17: 35,077,022 (GRCm39)	V538I	possibly damaging	Het
Col6a3	A	G	1: 90,738,984 (GRCm39)	S1022P	probably benign	Het
Cpeb1	A	G	7: 81,011,554 (GRCm39)	L129S	possibly damaging	Het
Crybg1	A	G	10: 43,880,741 (GRCm39)	V149A	probably benign	Het
Cyp4f16	C	A	17: 32,764,169 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,208,561 (GRCm39)	Q882*	probably null	Het
Fsip2	T	A	2: 82,822,876 (GRCm39)	I6203K	probably benign	Het
Gabre	CCGGCT	CCGGCTACGGCT	X: 71,313,651 (GRCm39)		probably null	Het
Gprc5d	A	T	6: 135,093,517 (GRCm39)	L130Q	probably damaging	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Hmcn1	T	A	1: 150,510,897 (GRCm39)	K3609*	probably null	Het
Hsdl2	GCTGCAG	GCTGCAGCAGCAGCCACATCTGCAG	4: 59,610,652 (GRCm39)		probably benign	Het
Kl	A	C	5: 150,876,885 (GRCm39)	Y235S	probably benign	Het
Map6d1	G	A	16: 20,059,750 (GRCm39)	T105I	probably benign	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,872,815 (GRCm39)		probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,644 (GRCm39)		probably benign	Het
Mms22l	A	G	4: 24,517,207 (GRCm39)	I363V	probably benign	Het
Myo7a	T	C	7: 97,742,824 (GRCm39)	I391V	probably benign	Het
Nab2	A	T	10: 127,500,233 (GRCm39)	D286E	probably benign	Het
Nrxn1	G	A	17: 90,670,304 (GRCm39)	R1144C	probably damaging	Het
Or51q1	A	G	7: 103,628,768 (GRCm39)	D123G	probably damaging	Het
Or52j3	T	C	7: 102,835,898 (GRCm39)	I30T	possibly damaging	Het
Or5al5	T	C	2: 85,961,414 (GRCm39)	M198V	probably benign	Het
Pan2	G	A	10: 128,151,404 (GRCm39)	E842K	probably benign	Het
Pate11	T	C	9: 36,386,970 (GRCm39)	S13P	possibly damaging	Het
Polr1has	CACCACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCACCAC	17: 37,275,940 (GRCm39)		probably benign	Het
Prex2	A	C	1: 11,255,390 (GRCm39)	D1145A	possibly damaging	Het
Prop1	A	C	11: 50,841,957 (GRCm39)	Y150D	possibly damaging	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,378,735 (GRCm39)	I353M	probably damaging	Het
Rapgef1	C	A	2: 29,597,207 (GRCm39)		probably null	Het
Rgl1	G	A	1: 152,397,114 (GRCm39)	S684L	probably benign	Het
Scpppq1	A	C	5: 104,222,725 (GRCm39)		probably null	Het
Serpinh1	C	T	7: 98,995,410 (GRCm39)	V391M	probably damaging	Het
Slc35e4	A	T	11: 3,857,960 (GRCm39)	L215Q	possibly damaging	Het
Tbl3	TCTT	TCTTCTT	17: 24,921,515 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,705 (GRCm39)	M2045K	probably benign	Het
Tmprss15	T	C	16: 78,750,689 (GRCm39)	*1070W	probably null	Het
Trav15-2-dv6-2	GAA	GAACAA	14: 53,887,211 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,887,208 (GRCm39)		probably benign	Het
Trim33	GCCCCGGCCCCCG	GCCCCG	3: 103,187,528 (GRCm39)		probably null	Het
Triobp	GACAA	GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA	15: 78,851,261 (GRCm39)		probably benign	Het
Tub	C	A	7: 108,621,846 (GRCm39)	Q95K	probably benign	Het
Usp9y	T	A	Y: 1,435,046 (GRCm39)	Q261L	probably benign	Het
Utp20	A	T	10: 88,661,319 (GRCm39)	D29E	probably damaging	Het
Vill	G	A	9: 118,889,507 (GRCm39)	V148M	probably damaging	Het
Vmn2r120	C	T	17: 57,828,991 (GRCm39)	E535K	possibly damaging	Het
Zfp451	A	T	1: 33,815,873 (GRCm39)	Y692*	probably null	Het
Zfp599	A	C	9: 22,165,180 (GRCm39)	V65G	probably benign	Het
Zfp808	T	C	13: 62,319,113 (GRCm39)	V114A	probably benign	Het

Other mutations in Sbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Sbf2	APN	7	109,975,039 (GRCm39)	splice site	probably benign
IGL01089:Sbf2	APN	7	109,948,169 (GRCm39)	missense	probably damaging	1.00
IGL01144:Sbf2	APN	7	109,929,110 (GRCm39)	missense	probably damaging	1.00
IGL01652:Sbf2	APN	7	110,046,327 (GRCm39)	missense	probably damaging	1.00
IGL01950:Sbf2	APN	7	109,965,032 (GRCm39)	missense	probably benign	0.00
IGL02027:Sbf2	APN	7	110,060,348 (GRCm39)	missense	probably damaging	1.00
IGL02244:Sbf2	APN	7	110,159,502 (GRCm39)	missense	probably damaging	1.00
IGL02376:Sbf2	APN	7	110,062,163 (GRCm39)	missense	probably damaging	0.99
IGL03405:Sbf2	APN	7	110,062,139 (GRCm39)	missense	probably damaging	0.98
N/A - 535:Sbf2	UTSW	7	109,911,959 (GRCm39)	missense	probably benign
R0084:Sbf2	UTSW	7	110,041,573 (GRCm39)	missense	possibly damaging	0.95
R0092:Sbf2	UTSW	7	109,920,013 (GRCm39)	splice site	probably benign
R0121:Sbf2	UTSW	7	110,088,426 (GRCm39)	critical splice donor site	probably null
R0464:Sbf2	UTSW	7	110,063,783 (GRCm39)	splice site	probably benign
R0505:Sbf2	UTSW	7	109,998,550 (GRCm39)	missense	probably damaging	1.00
R0531:Sbf2	UTSW	7	109,966,530 (GRCm39)	splice site	probably benign
R0554:Sbf2	UTSW	7	110,027,494 (GRCm39)	missense	probably damaging	1.00
R0617:Sbf2	UTSW	7	109,929,890 (GRCm39)	frame shift	probably null
R0619:Sbf2	UTSW	7	109,909,469 (GRCm39)	missense	possibly damaging	0.87
R0799:Sbf2	UTSW	7	109,940,562 (GRCm39)	missense	possibly damaging	0.58
R0898:Sbf2	UTSW	7	109,970,859 (GRCm39)	missense	possibly damaging	0.59
R1077:Sbf2	UTSW	7	109,966,379 (GRCm39)	splice site	probably benign
R1167:Sbf2	UTSW	7	109,963,756 (GRCm39)	missense	probably damaging	1.00
R1169:Sbf2	UTSW	7	109,909,391 (GRCm39)	missense	probably benign	0.04
R1424:Sbf2	UTSW	7	109,914,233 (GRCm39)	missense	probably damaging	1.00
R1536:Sbf2	UTSW	7	109,977,250 (GRCm39)	missense	probably damaging	1.00
R1558:Sbf2	UTSW	7	110,027,553 (GRCm39)	missense	probably damaging	1.00
R1601:Sbf2	UTSW	7	109,939,283 (GRCm39)	critical splice acceptor site	probably null
R1762:Sbf2	UTSW	7	109,911,965 (GRCm39)	missense	probably benign
R1771:Sbf2	UTSW	7	110,060,353 (GRCm39)	nonsense	probably null
R1989:Sbf2	UTSW	7	109,948,130 (GRCm39)	missense	possibly damaging	0.94
R2109:Sbf2	UTSW	7	110,060,419 (GRCm39)	missense	probably damaging	1.00
R2126:Sbf2	UTSW	7	110,159,502 (GRCm39)	missense	probably damaging	1.00
R2444:Sbf2	UTSW	7	109,929,905 (GRCm39)	missense	probably benign	0.31
R3765:Sbf2	UTSW	7	109,974,788 (GRCm39)	missense	probably damaging	1.00
R3808:Sbf2	UTSW	7	110,088,487 (GRCm39)	makesense	probably null
R3895:Sbf2	UTSW	7	110,046,298 (GRCm39)	missense	probably damaging	0.99
R3978:Sbf2	UTSW	7	109,929,092 (GRCm39)	missense	probably benign	0.00
R4056:Sbf2	UTSW	7	110,040,673 (GRCm39)	missense	probably damaging	0.99
R4057:Sbf2	UTSW	7	110,040,673 (GRCm39)	missense	probably damaging	0.99
R4111:Sbf2	UTSW	7	110,027,449 (GRCm39)	missense	probably damaging	1.00
R4569:Sbf2	UTSW	7	109,948,060 (GRCm39)	critical splice donor site	probably null
R4670:Sbf2	UTSW	7	109,934,606 (GRCm39)	missense	probably damaging	1.00
R4763:Sbf2	UTSW	7	110,020,124 (GRCm39)	missense	probably damaging	1.00
R4792:Sbf2	UTSW	7	109,950,817 (GRCm39)	missense	probably damaging	0.98
R4811:Sbf2	UTSW	7	109,971,742 (GRCm39)	missense	probably damaging	1.00
R4822:Sbf2	UTSW	7	109,977,146 (GRCm39)	intron	probably benign
R5110:Sbf2	UTSW	7	109,963,864 (GRCm39)	missense	probably benign	0.10
R5143:Sbf2	UTSW	7	110,021,747 (GRCm39)	nonsense	probably null
R5443:Sbf2	UTSW	7	109,977,135 (GRCm39)	intron	probably benign
R5457:Sbf2	UTSW	7	109,912,037 (GRCm39)	missense	probably benign
R5641:Sbf2	UTSW	7	110,038,108 (GRCm39)	missense	probably damaging	1.00
R5915:Sbf2	UTSW	7	109,977,303 (GRCm39)	nonsense	probably null
R5948:Sbf2	UTSW	7	110,088,492 (GRCm39)	missense	probably damaging	1.00
R5977:Sbf2	UTSW	7	109,977,193 (GRCm39)	missense	probably benign	0.00
R6052:Sbf2	UTSW	7	110,040,741 (GRCm39)	missense	probably damaging	1.00
R6142:Sbf2	UTSW	7	109,948,182 (GRCm39)	missense	probably damaging	1.00
R6327:Sbf2	UTSW	7	110,040,759 (GRCm39)	missense	probably damaging	1.00
R6356:Sbf2	UTSW	7	109,971,830 (GRCm39)	missense	probably damaging	1.00
R6450:Sbf2	UTSW	7	110,062,070 (GRCm39)	missense	probably damaging	1.00
R6587:Sbf2	UTSW	7	110,040,182 (GRCm39)	missense	probably damaging	1.00
R6696:Sbf2	UTSW	7	110,159,505 (GRCm39)	missense	probably benign	0.04
R6986:Sbf2	UTSW	7	109,929,822 (GRCm39)	missense	probably damaging	0.99
R7147:Sbf2	UTSW	7	110,046,268 (GRCm39)	missense	probably benign	0.01
R7358:Sbf2	UTSW	7	109,998,555 (GRCm39)	missense	possibly damaging	0.95
R7414:Sbf2	UTSW	7	109,913,271 (GRCm39)	missense	possibly damaging	0.89
R7418:Sbf2	UTSW	7	109,965,028 (GRCm39)	missense	probably damaging	1.00
R7423:Sbf2	UTSW	7	110,038,055 (GRCm39)	missense	possibly damaging	0.48
R7425:Sbf2	UTSW	7	109,974,984 (GRCm39)	nonsense	probably null
R7431:Sbf2	UTSW	7	109,950,957 (GRCm39)	missense	probably damaging	1.00
R7497:Sbf2	UTSW	7	110,213,923 (GRCm39)	nonsense	probably null
R7556:Sbf2	UTSW	7	109,913,260 (GRCm39)	missense	probably benign	0.20
R7604:Sbf2	UTSW	7	109,977,274 (GRCm39)	missense	possibly damaging	0.95
R7707:Sbf2	UTSW	7	109,929,920 (GRCm39)	critical splice acceptor site	probably null
R7746:Sbf2	UTSW	7	110,040,633 (GRCm39)	missense	probably benign	0.01
R7812:Sbf2	UTSW	7	110,049,170 (GRCm39)	missense	possibly damaging	0.84
R7849:Sbf2	UTSW	7	109,971,717 (GRCm39)	missense	probably damaging	1.00
R8026:Sbf2	UTSW	7	109,934,594 (GRCm39)	missense	probably damaging	1.00
R8048:Sbf2	UTSW	7	109,914,289 (GRCm39)	missense	probably benign	0.21
R8305:Sbf2	UTSW	7	109,970,825 (GRCm39)	missense	possibly damaging	0.79
R8337:Sbf2	UTSW	7	110,040,669 (GRCm39)	missense	probably benign
R8773:Sbf2	UTSW	7	109,948,202 (GRCm39)	missense	probably benign
R8786:Sbf2	UTSW	7	110,063,793 (GRCm39)	critical splice donor site	probably null
R8812:Sbf2	UTSW	7	109,929,069 (GRCm39)	missense	probably damaging	1.00
R8876:Sbf2	UTSW	7	110,049,146 (GRCm39)	missense	probably damaging	0.99
R8932:Sbf2	UTSW	7	110,040,155 (GRCm39)	critical splice donor site	probably null
R8954:Sbf2	UTSW	7	110,038,118 (GRCm39)	nonsense	probably null
R8991:Sbf2	UTSW	7	109,911,896 (GRCm39)	missense	probably benign	0.20
R9119:Sbf2	UTSW	7	109,911,292 (GRCm39)	missense	possibly damaging	0.93
R9310:Sbf2	UTSW	7	109,914,292 (GRCm39)	missense	possibly damaging	0.58
R9344:Sbf2	UTSW	7	109,940,535 (GRCm39)	missense	probably benign	0.10
R9346:Sbf2	UTSW	7	109,919,946 (GRCm39)	missense	probably benign	0.05
R9404:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9406:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9408:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9472:Sbf2	UTSW	7	109,970,798 (GRCm39)	missense	possibly damaging	0.88
R9554:Sbf2	UTSW	7	110,040,671 (GRCm39)	missense	probably damaging	1.00
R9562:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9624:Sbf2	UTSW	7	109,963,857 (GRCm39)	missense	probably damaging	1.00
R9652:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9653:Sbf2	UTSW	7	110,040,702 (GRCm39)	missense	possibly damaging	0.81
R9709:Sbf2	UTSW	7	110,027,514 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAACTCAAACTTGTATTGCCTCG -3'
(R):5'- CATTCTGAAGCAGCCGTGAG -3'

Sequencing Primer
(F):5'- GCCTCGAAATTTTAAATACCTTTGGG -3'
(R):5'- CATGCTTTGCCCAGGTTCGG -3'

Posted On

2019-12-04