Mutagenetix > Incidental Mutation

Incidental Mutation 'R5948:Sbf2'

472277

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1

MMRRC Submission

043244-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R5948 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109907220-110214129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110088492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 73 (D73G)

Ref Sequence

ENSEMBL: ENSMUSP00000132072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033058] [ENSMUST00000164759] [ENSMUST00000166020] [ENSMUST00000167652] [ENSMUST00000171218]

AlphaFold

E9PXF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000033058
AA Change: D73G

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

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: D73G

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: D73G

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

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: D73G

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

noncoding transcript
Transcript: ENSMUST00000165449

Predicted Effect

probably benign
Transcript: ENSMUST00000166020

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371

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

Predicted Effect

silent
Transcript: ENSMUST00000167652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167880

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171218
AA Change: D73G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: D73G

Domain	Start	End	E-Value	Type
uDENN	1	87	2.27e-33	SMART
DENN	116	298	5.68e-75	SMART
dDENN	351	407	1.5e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171378

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,137,504 (GRCm39)		probably null	Het
Adam8	G	T	7: 139,567,797 (GRCm39)	D341E	probably benign	Het
Ankrd6	T	C	4: 32,817,075 (GRCm39)	T351A	possibly damaging	Het
Ccdc150	T	C	1: 54,316,873 (GRCm39)	S251P	possibly damaging	Het
Cfh	T	C	1: 140,036,546 (GRCm39)	N629S	probably damaging	Het
Col4a2	T	C	8: 11,470,600 (GRCm39)	S453P	probably benign	Het
Csf2	T	C	11: 54,138,514 (GRCm39)	D109G	probably benign	Het
Dapk1	C	A	13: 60,877,209 (GRCm39)	H483N	probably damaging	Het
Dnah7c	T	G	1: 46,711,657 (GRCm39)	I2628R	probably benign	Het
Dsp	T	C	13: 38,379,377 (GRCm39)	Y2041H	possibly damaging	Het
Dusp10	A	G	1: 183,801,073 (GRCm39)	N280S	probably benign	Het
Efhc1	T	A	1: 21,043,052 (GRCm39)	Y324N	probably damaging	Het
Epsti1	T	C	14: 78,177,330 (GRCm39)	L170P	probably damaging	Het
Fbn2	C	T	18: 58,170,121 (GRCm39)	G2217R	probably damaging	Het
Fryl	A	G	5: 73,254,715 (GRCm39)		probably null	Het
Mrpl39	T	C	16: 84,522,041 (GRCm39)	N244D	probably benign	Het
Nptxr	C	T	15: 79,674,042 (GRCm39)	A445T	probably benign	Het
Or1j15	A	G	2: 36,459,363 (GRCm39)	Y251C	probably damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Parvb	G	A	15: 84,187,662 (GRCm39)	V257M	probably damaging	Het
Piezo1	T	C	8: 123,210,086 (GRCm39)	E2258G	probably benign	Het
Prpf8	A	G	11: 75,400,015 (GRCm39)	E2303G	possibly damaging	Het
Psmc6	A	G	14: 45,572,114 (GRCm39)	D88G	probably benign	Het
Rbbp6	C	T	7: 122,596,851 (GRCm39)	T701I	probably damaging	Het
Rtl1	T	A	12: 109,557,033 (GRCm39)	D1602V	possibly damaging	Het
Rubcnl	T	C	14: 75,285,056 (GRCm39)	L525P	probably damaging	Het
Sh3tc2	T	A	18: 62,146,176 (GRCm39)	M1185K	probably damaging	Het
Shank2	A	G	7: 143,960,960 (GRCm39)	K469E	probably damaging	Het
Ttc41	T	C	10: 86,549,088 (GRCm39)	L94P	probably damaging	Het
Ttf1	G	A	2: 28,963,932 (GRCm39)	A603T	possibly damaging	Het
Usp9y	A	T	Y: 1,324,996 (GRCm39)	H1686Q	possibly damaging	Het
Vps37a	A	G	8: 40,993,752 (GRCm39)	E249G	possibly damaging	Het
Zfp273	A	G	13: 67,973,918 (GRCm39)	I316V	probably benign	Het
Zfp600	T	A	4: 146,131,645 (GRCm39)	N104K	probably damaging	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
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
RF005:Sbf2	UTSW	7	109,916,215 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAAGTTTGCTTCATGATAGGTAACT -3'
(R):5'- TGTATGTATATGGACATGTGATCACA -3'

Sequencing Primer
(F):5'- TATGAGTTCTGGTCCTTGAAACC -3'
(R):5'- CATTGTGCTAAGATGTCAGGCACAC -3'

Posted On

2017-03-31