Mutagenetix > Incidental Mutation

Incidental Mutation 'R9119:Sbf2'

692682

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1

MMRRC Submission

068922-MU

Accession Numbers

Essential gene?

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

Stock #

R9119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109907220-110214129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109911292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1793 (T1793A)

Ref Sequence

ENSEMBL: ENSMUSP00000033058 (fasta)

Gene Model

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

AlphaFold

E9PXF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033058
AA Change: T1793A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: T1793A

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

possibly damaging
Transcript: ENSMUST00000164759
AA Change: T1768A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: T1768A

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

possibly damaging
Transcript: ENSMUST00000166020
AA Change: T1747A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: T1747A

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

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Aass	A	T	6: 23,094,000 (GRCm39)	M517K	probably benign	Het
Abcc4	A	G	14: 118,868,442 (GRCm39)	V245A	probably benign	Het
Adgrv1	A	G	13: 81,658,995 (GRCm39)	V2783A	probably damaging	Het
Anxa3	T	A	5: 96,976,557 (GRCm39)	I181N		Het
Ap4m1	T	A	5: 138,174,303 (GRCm39)		probably benign	Het
C1ql1	T	A	11: 102,836,879 (GRCm39)	K137*	probably null	Het
Camkmt	T	A	17: 85,403,988 (GRCm39)	L70Q	probably damaging	Het
Ceacam18	T	C	7: 43,288,909 (GRCm39)	L220P	probably benign	Het
Celsr2	C	T	3: 108,309,288 (GRCm39)	A1656T	possibly damaging	Het
Dnah6	T	C	6: 73,037,186 (GRCm39)	N3352S	possibly damaging	Het
Fbxo40	C	A	16: 36,786,457 (GRCm39)	R704L	probably damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Gas2l3	T	C	10: 89,249,319 (GRCm39)	T600A	possibly damaging	Het
Ggh	T	A	4: 20,057,955 (GRCm39)	M172K	probably damaging	Het
Gpr137	G	A	19: 6,915,811 (GRCm39)	T373I	probably benign	Het
Kpna2rt	T	C	17: 90,217,621 (GRCm39)	K42E	probably damaging	Het
Mtnr1a	G	A	8: 45,541,003 (GRCm39)	M321I	probably benign	Het
Nebl	T	G	2: 17,405,370 (GRCm39)	N383T	probably damaging	Het
Nob1	A	G	8: 108,142,776 (GRCm39)	S302P	probably damaging	Het
Ofcc1	A	T	13: 40,334,016 (GRCm39)	H358Q	probably benign	Het
Or6b3	G	T	1: 92,438,904 (GRCm39)	T282K	probably damaging	Het
Pkd1l1	G	A	11: 8,829,107 (GRCm39)	T1495I		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb4	G	A	2: 135,809,872 (GRCm39)	E609K	probably damaging	Het
Plxnd1	A	T	6: 115,932,832 (GRCm39)		probably benign	Het
Prdm2	G	A	4: 142,858,449 (GRCm39)	Q1614*	probably null	Het
Psg21	T	G	7: 18,381,409 (GRCm39)	K378T	probably benign	Het
Ptprh	T	A	7: 4,555,712 (GRCm39)	N749I	probably benign	Het
Ric8b	T	G	10: 84,783,334 (GRCm39)	V64G	possibly damaging	Het
Scgb1c1	A	G	7: 140,426,135 (GRCm39)	H77R	probably null	Het
Sfswap	C	A	5: 129,591,829 (GRCm39)	T282N	probably benign	Het
Sorcs3	A	T	19: 48,642,433 (GRCm39)	Y362F	possibly damaging	Het
Spata31h1	T	C	10: 82,131,553 (GRCm39)	T486A	probably benign	Het
Tpm4	A	G	8: 72,892,525 (GRCm39)	N76D	probably benign	Het
Tpr	T	A	1: 150,279,753 (GRCm39)	L294Q	probably damaging	Het
Ttc3	C	T	16: 94,192,950 (GRCm39)	T237I	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ugt2a2	A	G	5: 87,610,834 (GRCm39)	V334A	probably damaging	Het
Usp38	A	T	8: 81,711,228 (GRCm39)	F936I	probably damaging	Het
Utp14b	A	G	1: 78,643,025 (GRCm39)	K308E	probably damaging	Het
Vmn2r19	C	T	6: 123,292,527 (GRCm39)	P190S	possibly damaging	Het
Zbbx	T	C	3: 74,985,897 (GRCm39)	E385G	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
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
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'- TTGCCTTAGCTGTGCTCCAG -3'
(R):5'- TAACCAGGGGAATGCTGACC -3'

Sequencing Primer
(F):5'- CAGGTAGAGGCTGCTTTAAAATTTCC -3'
(R):5'- TAGGGCCTGACTCCAAGGAG -3'

Posted On

2021-12-30