Mutagenetix > Incidental Mutation

Incidental Mutation 'R6327:Sbf2'

510473

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

mMTMH1, 4833411B01Rik, Mtmr13, B430219L04Rik, SBF2

MMRRC Submission

044481-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R6327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110308013-110614922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110441552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 356 (R356Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129805 (fasta)

Gene Model

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

AlphaFold

E9PXF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000033058
AA Change: R356Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: R356Q

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

unknown
Transcript: ENSMUST00000164559
AA Change: R6Q

SMART Domains

Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
AA Change: R6Q

Domain	Start	End	E-Value	Type
dDENN	2	74	3.04e-2	SMART
Pfam:SBF2	138	177	1.6e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164759
AA Change: R356Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: R356Q

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 damaging
Transcript: ENSMUST00000166020
AA Change: R310Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: R310Q

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

unknown
Transcript: ENSMUST00000166885
AA Change: R172Q

SMART Domains

Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
AA Change: R172Q

Domain	Start	End	E-Value	Type
DENN	2	151	1.96e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167880

Predicted Effect

probably damaging
Transcript: ENSMUST00000171218
AA Change: R356Q

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

SMART Domains

Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: R356Q

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

Meta Mutation Damage Score

0.1953

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,558,692 (GRCm38)		probably null	Het
Birc6	C	A	17: 74,662,779 (GRCm38)	H383Q	probably damaging	Het
C2	C	A	17: 34,864,103 (GRCm38)	A431S	probably benign	Het
C3ar1	C	T	6: 122,850,146 (GRCm38)	V371M	probably damaging	Het
Chd1l	G	A	3: 97,587,167 (GRCm38)	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,285,494 (GRCm38)	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,730,797 (GRCm38)	I842F	probably benign	Het
Cmc2	G	T	8: 116,894,157 (GRCm38)	H28Q	probably damaging	Het
Col11a2	C	T	17: 34,043,317 (GRCm38)	P176L	probably benign	Het
Csmd3	T	C	15: 47,881,387 (GRCm38)	D1404G	probably damaging	Het
Dld	G	A	12: 31,332,191 (GRCm38)	P506S	probably benign	Het
Dsg3	T	C	18: 20,539,870 (GRCm38)	M866T	probably benign	Het
Ehd1	T	C	19: 6,298,345 (GRCm38)	I451T	possibly damaging	Het
Fosb	T	C	7: 19,307,227 (GRCm38)	T114A	probably benign	Het
Foxd4	T	A	19: 24,900,834 (GRCm38)	M1L	possibly damaging	Het
Fstl5	T	A	3: 76,707,801 (GRCm38)	I723N	probably benign	Het
Gm10549	C	A	18: 33,464,305 (GRCm38)		probably benign	Het
Gm11595	G	A	11: 99,772,555 (GRCm38)	R100C	unknown	Het
Hdlbp	A	G	1: 93,429,464 (GRCm38)	S299P	possibly damaging	Het
Mast4	G	A	13: 102,761,382 (GRCm38)	R650C	probably damaging	Het
Micu3	A	G	8: 40,366,197 (GRCm38)	T306A	probably benign	Het
Mylk2	A	G	2: 152,913,693 (GRCm38)	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,821,962 (GRCm38)	N31S	probably damaging	Het
Nisch	A	T	14: 31,171,487 (GRCm38)		probably benign	Het
Nudt17	T	C	3: 96,707,764 (GRCm38)		probably benign	Het
Olfr1389	A	C	11: 49,431,001 (GRCm38)	H175P	probably damaging	Het
Olfr292	T	C	7: 86,694,552 (GRCm38)	V32A	probably benign	Het
Olfr541	T	C	7: 140,704,703 (GRCm38)	W151R	probably damaging	Het
Oprm1	A	C	10: 6,830,063 (GRCm38)	I242L	probably damaging	Het
Otud6b	A	G	4: 14,826,496 (GRCm38)		probably benign	Het
Pamr1	A	T	2: 102,642,174 (GRCm38)	D606V	probably damaging	Het
Pcf11	T	C	7: 92,659,609 (GRCm38)		probably benign	Het
Pom121l2	T	C	13: 21,982,332 (GRCm38)	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,655,834 (GRCm38)	D196V	possibly damaging	Het
Serpinf1	A	G	11: 75,413,905 (GRCm38)		probably null	Het
Slc22a30	T	G	19: 8,335,722 (GRCm38)		probably benign	Het
Strn4	G	T	7: 16,816,459 (GRCm38)	S36I	probably benign	Het
Taar6	A	G	10: 23,985,279 (GRCm38)	L123P	probably damaging	Het
Thbs1	G	T	2: 118,112,656 (GRCm38)	R5L	unknown	Het
Timp3	T	C	10: 86,345,786 (GRCm38)	Y174H	probably benign	Het
Trpm2	C	T	10: 77,932,227 (GRCm38)	V813M	probably damaging	Het
Uox	C	T	3: 146,624,577 (GRCm38)	R163*	probably null	Het
Vcan	A	T	13: 89,704,832 (GRCm38)	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,008,652 (GRCm38)	N194K	possibly damaging	Het

Other mutations in Sbf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Sbf2	APN	7	110,375,832 (GRCm38)	splice site	probably benign
IGL01089:Sbf2	APN	7	110,348,962 (GRCm38)	missense	probably damaging	1.00
IGL01144:Sbf2	APN	7	110,329,903 (GRCm38)	missense	probably damaging	1.00
IGL01652:Sbf2	APN	7	110,447,120 (GRCm38)	missense	probably damaging	1.00
IGL01950:Sbf2	APN	7	110,365,825 (GRCm38)	missense	probably benign	0.00
IGL02027:Sbf2	APN	7	110,461,141 (GRCm38)	missense	probably damaging	1.00
IGL02244:Sbf2	APN	7	110,560,295 (GRCm38)	missense	probably damaging	1.00
IGL02376:Sbf2	APN	7	110,462,956 (GRCm38)	missense	probably damaging	0.99
IGL03405:Sbf2	APN	7	110,462,932 (GRCm38)	missense	probably damaging	0.98
N/A - 535:Sbf2	UTSW	7	110,312,752 (GRCm38)	missense	probably benign
R0084:Sbf2	UTSW	7	110,442,366 (GRCm38)	missense	possibly damaging	0.95
R0092:Sbf2	UTSW	7	110,320,806 (GRCm38)	splice site	probably benign
R0121:Sbf2	UTSW	7	110,489,219 (GRCm38)	critical splice donor site	probably null
R0464:Sbf2	UTSW	7	110,464,576 (GRCm38)	splice site	probably benign
R0505:Sbf2	UTSW	7	110,399,343 (GRCm38)	missense	probably damaging	1.00
R0531:Sbf2	UTSW	7	110,367,323 (GRCm38)	splice site	probably benign
R0554:Sbf2	UTSW	7	110,428,287 (GRCm38)	missense	probably damaging	1.00
R0617:Sbf2	UTSW	7	110,330,683 (GRCm38)	frame shift	probably null
R0619:Sbf2	UTSW	7	110,310,262 (GRCm38)	missense	possibly damaging	0.87
R0799:Sbf2	UTSW	7	110,341,355 (GRCm38)	missense	possibly damaging	0.58
R0898:Sbf2	UTSW	7	110,371,652 (GRCm38)	missense	possibly damaging	0.59
R1077:Sbf2	UTSW	7	110,367,172 (GRCm38)	splice site	probably benign
R1167:Sbf2	UTSW	7	110,364,549 (GRCm38)	missense	probably damaging	1.00
R1169:Sbf2	UTSW	7	110,310,184 (GRCm38)	missense	probably benign	0.04
R1424:Sbf2	UTSW	7	110,315,026 (GRCm38)	missense	probably damaging	1.00
R1536:Sbf2	UTSW	7	110,378,043 (GRCm38)	missense	probably damaging	1.00
R1558:Sbf2	UTSW	7	110,428,346 (GRCm38)	missense	probably damaging	1.00
R1601:Sbf2	UTSW	7	110,340,076 (GRCm38)	critical splice acceptor site	probably null
R1762:Sbf2	UTSW	7	110,312,758 (GRCm38)	missense	probably benign
R1771:Sbf2	UTSW	7	110,461,146 (GRCm38)	nonsense	probably null
R1989:Sbf2	UTSW	7	110,348,923 (GRCm38)	missense	possibly damaging	0.94
R2109:Sbf2	UTSW	7	110,461,212 (GRCm38)	missense	probably damaging	1.00
R2126:Sbf2	UTSW	7	110,560,295 (GRCm38)	missense	probably damaging	1.00
R2444:Sbf2	UTSW	7	110,330,698 (GRCm38)	missense	probably benign	0.31
R3765:Sbf2	UTSW	7	110,375,581 (GRCm38)	missense	probably damaging	1.00
R3808:Sbf2	UTSW	7	110,489,280 (GRCm38)	makesense	probably null
R3895:Sbf2	UTSW	7	110,447,091 (GRCm38)	missense	probably damaging	0.99
R3978:Sbf2	UTSW	7	110,329,885 (GRCm38)	missense	probably benign	0.00
R4056:Sbf2	UTSW	7	110,441,466 (GRCm38)	missense	probably damaging	0.99
R4057:Sbf2	UTSW	7	110,441,466 (GRCm38)	missense	probably damaging	0.99
R4111:Sbf2	UTSW	7	110,428,242 (GRCm38)	missense	probably damaging	1.00
R4569:Sbf2	UTSW	7	110,348,853 (GRCm38)	critical splice donor site	probably null
R4670:Sbf2	UTSW	7	110,335,399 (GRCm38)	missense	probably damaging	1.00
R4763:Sbf2	UTSW	7	110,420,917 (GRCm38)	missense	probably damaging	1.00
R4792:Sbf2	UTSW	7	110,351,610 (GRCm38)	missense	probably damaging	0.98
R4811:Sbf2	UTSW	7	110,372,535 (GRCm38)	missense	probably damaging	1.00
R4822:Sbf2	UTSW	7	110,377,939 (GRCm38)	intron	probably benign
R5110:Sbf2	UTSW	7	110,364,657 (GRCm38)	missense	probably benign	0.10
R5143:Sbf2	UTSW	7	110,422,540 (GRCm38)	nonsense	probably null
R5443:Sbf2	UTSW	7	110,377,928 (GRCm38)	intron	probably benign
R5457:Sbf2	UTSW	7	110,312,830 (GRCm38)	missense	probably benign
R5641:Sbf2	UTSW	7	110,438,901 (GRCm38)	missense	probably damaging	1.00
R5915:Sbf2	UTSW	7	110,378,096 (GRCm38)	nonsense	probably null
R5948:Sbf2	UTSW	7	110,489,285 (GRCm38)	missense	probably damaging	1.00
R5977:Sbf2	UTSW	7	110,377,986 (GRCm38)	missense	probably benign	0.00
R6052:Sbf2	UTSW	7	110,441,534 (GRCm38)	missense	probably damaging	1.00
R6142:Sbf2	UTSW	7	110,348,975 (GRCm38)	missense	probably damaging	1.00
R6356:Sbf2	UTSW	7	110,372,623 (GRCm38)	missense	probably damaging	1.00
R6450:Sbf2	UTSW	7	110,462,863 (GRCm38)	missense	probably damaging	1.00
R6587:Sbf2	UTSW	7	110,440,975 (GRCm38)	missense	probably damaging	1.00
R6696:Sbf2	UTSW	7	110,560,298 (GRCm38)	missense	probably benign	0.04
R6986:Sbf2	UTSW	7	110,330,615 (GRCm38)	missense	probably damaging	0.99
R7147:Sbf2	UTSW	7	110,447,061 (GRCm38)	missense	probably benign	0.01
R7358:Sbf2	UTSW	7	110,399,348 (GRCm38)	missense	possibly damaging	0.95
R7414:Sbf2	UTSW	7	110,314,064 (GRCm38)	missense	possibly damaging	0.89
R7418:Sbf2	UTSW	7	110,365,821 (GRCm38)	missense	probably damaging	1.00
R7423:Sbf2	UTSW	7	110,438,848 (GRCm38)	missense	possibly damaging	0.48
R7425:Sbf2	UTSW	7	110,375,777 (GRCm38)	nonsense	probably null
R7431:Sbf2	UTSW	7	110,351,750 (GRCm38)	missense	probably damaging	1.00
R7497:Sbf2	UTSW	7	110,614,716 (GRCm38)	nonsense	probably null
R7556:Sbf2	UTSW	7	110,314,053 (GRCm38)	missense	probably benign	0.20
R7604:Sbf2	UTSW	7	110,378,067 (GRCm38)	missense	possibly damaging	0.95
R7707:Sbf2	UTSW	7	110,330,713 (GRCm38)	critical splice acceptor site	probably null
R7746:Sbf2	UTSW	7	110,441,426 (GRCm38)	missense	probably benign	0.01
R7812:Sbf2	UTSW	7	110,449,963 (GRCm38)	missense	possibly damaging	0.84
R7849:Sbf2	UTSW	7	110,372,510 (GRCm38)	missense	probably damaging	1.00
R8026:Sbf2	UTSW	7	110,335,387 (GRCm38)	missense	probably damaging	1.00
R8048:Sbf2	UTSW	7	110,315,082 (GRCm38)	missense	probably benign	0.21
R8305:Sbf2	UTSW	7	110,371,618 (GRCm38)	missense	possibly damaging	0.79
R8337:Sbf2	UTSW	7	110,441,462 (GRCm38)	missense	probably benign
R8773:Sbf2	UTSW	7	110,348,995 (GRCm38)	missense	probably benign
R8786:Sbf2	UTSW	7	110,464,586 (GRCm38)	critical splice donor site	probably null
R8812:Sbf2	UTSW	7	110,329,862 (GRCm38)	missense	probably damaging	1.00
R8876:Sbf2	UTSW	7	110,449,939 (GRCm38)	missense	probably damaging	0.99
R8932:Sbf2	UTSW	7	110,440,948 (GRCm38)	critical splice donor site	probably null
R8954:Sbf2	UTSW	7	110,438,911 (GRCm38)	nonsense	probably null
R8991:Sbf2	UTSW	7	110,312,689 (GRCm38)	missense	probably benign	0.20
R9119:Sbf2	UTSW	7	110,312,085 (GRCm38)	missense	possibly damaging	0.93
R9310:Sbf2	UTSW	7	110,315,085 (GRCm38)	missense	possibly damaging	0.58
R9344:Sbf2	UTSW	7	110,341,328 (GRCm38)	missense	probably benign	0.10
R9346:Sbf2	UTSW	7	110,320,739 (GRCm38)	missense	probably benign	0.05
R9404:Sbf2	UTSW	7	110,441,495 (GRCm38)	missense	possibly damaging	0.81
R9406:Sbf2	UTSW	7	110,441,495 (GRCm38)	missense	possibly damaging	0.81
R9408:Sbf2	UTSW	7	110,441,495 (GRCm38)	missense	possibly damaging	0.81
R9472:Sbf2	UTSW	7	110,371,591 (GRCm38)	missense	possibly damaging	0.88
R9554:Sbf2	UTSW	7	110,441,464 (GRCm38)	missense	probably damaging	1.00
R9562:Sbf2	UTSW	7	110,441,495 (GRCm38)	missense	possibly damaging	0.81
R9624:Sbf2	UTSW	7	110,364,650 (GRCm38)	missense	probably damaging	1.00
R9652:Sbf2	UTSW	7	110,441,495 (GRCm38)	missense	possibly damaging	0.81
R9653:Sbf2	UTSW	7	110,441,495 (GRCm38)	missense	possibly damaging	0.81
R9709:Sbf2	UTSW	7	110,428,307 (GRCm38)	missense	probably damaging	0.99
RF005:Sbf2	UTSW	7	110,317,008 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACACATGGCTAATAGTGCGG -3'
(R):5'- ATGCTCTGGAATCCAATTCTCTTCAG -3'

Sequencing Primer
(F):5'- TGCGGTCCTATGAAATGAGTCCAC -3'
(R):5'- ATTTCACTCCAACATAGGCTCTCAGG -3'

Posted On

2018-04-02