Mutagenetix > Incidental Mutation

Incidental Mutation 'R9624:Sbf2'

725026

Institutional Source

Beutler Lab

Gene Symbol

Sbf2

Ensembl Gene

ENSMUSG00000038371

Gene Name

SET binding factor 2

Synonyms

B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9624 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109907220-110214129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109963857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1042 (V1042E)

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: V1042E

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

SMART Domains

Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: V1042E

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 benign
Transcript: ENSMUST00000164525

SMART Domains

Protein: ENSMUSP00000128340
Gene: ENSMUSG00000038371

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
Pfam:Myotub-related	28	217	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164599

SMART Domains

Protein: ENSMUSP00000131927
Gene: ENSMUSG00000038371

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	1	339	1.9e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164759
AA Change: V1042E

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

SMART Domains

Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: V1042E

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: V996E

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

SMART Domains

Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: V996E

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: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,509,070 (GRCm39)	N481I	probably damaging	Het
Ahnak	T	A	19: 8,989,846 (GRCm39)	L3710Q	unknown	Het
Anapc15-ps	T	C	10: 95,508,965 (GRCm39)	D105G	probably benign	Het
Ankfn1	T	C	11: 89,414,033 (GRCm39)	N114S	probably benign	Het
Ankrd27	A	T	7: 35,301,891 (GRCm39)	T137S	possibly damaging	Het
Atp1b3	A	G	9: 96,222,293 (GRCm39)	S165P	probably benign	Het
Atxn7l3	T	C	11: 102,182,852 (GRCm39)	D256G	probably benign	Het
B430305J03Rik	C	A	3: 61,271,408 (GRCm39)	L112F	unknown	Het
Bub1	A	T	2: 127,646,766 (GRCm39)	I838K	probably damaging	Het
C3	T	A	17: 57,527,189 (GRCm39)	E753D	probably benign	Het
Cacnb4	T	C	2: 52,364,942 (GRCm39)	D107G	probably benign	Het
Cenpj	A	T	14: 56,802,387 (GRCm39)	H59Q	probably benign	Het
Cxxc1	A	T	18: 74,352,512 (GRCm39)	H364L	possibly damaging	Het
Dapk1	T	C	13: 60,895,937 (GRCm39)	I675T	probably benign	Het
Eln	A	G	5: 134,738,991 (GRCm39)	S663P	unknown	Het
Epha8	G	T	4: 136,659,065 (GRCm39)	P863Q	probably damaging	Het
Erich6	G	T	3: 58,536,766 (GRCm39)	T278N	possibly damaging	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fam83g	C	T	11: 61,575,328 (GRCm39)		probably benign	Het
Fanci	A	T	7: 79,085,117 (GRCm39)	I848L	probably benign	Het
Foxj3	T	A	4: 119,483,589 (GRCm39)	D620E	unknown	Het
Gm14443	T	A	2: 175,012,129 (GRCm39)	N106Y	possibly damaging	Het
Gm17654	T	C	14: 43,815,492 (GRCm39)	D105G		Het
Gps1	C	A	11: 120,677,434 (GRCm39)	A216D	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,110 (GRCm39)	K339R	probably benign	Het
Ikzf1	A	G	11: 11,719,219 (GRCm39)	T396A	probably damaging	Het
Lratd2	A	T	15: 60,694,993 (GRCm39)	I251N	probably damaging	Het
Lrrc9	A	G	12: 72,497,586 (GRCm39)	I135V	probably benign	Het
Mylk	C	A	16: 34,699,677 (GRCm39)	Q347K	probably benign	Het
Myo1e	A	G	9: 70,303,156 (GRCm39)	Y1059C	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10d1b	A	G	9: 39,613,822 (GRCm39)	F81S	probably benign	Het
Or10j3	A	T	1: 173,031,672 (GRCm39)	I250F	probably benign	Het
Or2y1	T	A	11: 49,385,834 (GRCm39)	I158N	possibly damaging	Het
Or6c33	T	C	10: 129,853,866 (GRCm39)	V212A	possibly damaging	Het
Or8g23	T	A	9: 38,971,453 (GRCm39)	N170Y	probably benign	Het
Or8g30	G	T	9: 39,230,848 (GRCm39)	Q21K	probably benign	Het
Piezo2	G	A	18: 63,197,767 (GRCm39)	P1590S	possibly damaging	Het
Prl7a2	T	A	13: 27,849,869 (GRCm39)	K68*	probably null	Het
Prss33	A	G	17: 24,054,656 (GRCm39)	V14A	probably benign	Het
Rad17	T	C	13: 100,773,503 (GRCm39)	N162S	probably damaging	Het
Scn1a	A	T	2: 66,153,766 (GRCm39)	M689K	probably benign	Het
Senp7	A	T	16: 55,990,075 (GRCm39)	I608F	probably damaging	Het
Sh2b1	AGCTCAGCCACGGGGAC	AGCTCAGCCACGGGGACACGCTCAGCCACGGGGAC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc38a3	A	G	9: 107,532,510 (GRCm39)	V370A	probably damaging	Het
Sorbs2	A	G	8: 46,228,690 (GRCm39)	I307V	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spindoc	G	A	19: 7,352,197 (GRCm39)	T50M	probably benign	Het
Sppl2b	T	A	10: 80,699,373 (GRCm39)	F269Y	probably benign	Het
Stab1	C	T	14: 30,863,345 (GRCm39)	V2114M		Het
Tcerg1l	A	G	7: 137,995,923 (GRCm39)	V195A	possibly damaging	Het
Tent4a	A	T	13: 69,651,787 (GRCm39)	W545R	probably damaging	Het
Tmem128	G	T	5: 38,422,236 (GRCm39)	R105L	possibly damaging	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Vmn1r194	T	A	13: 22,428,671 (GRCm39)	I96N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r78	G	A	7: 11,886,410 (GRCm39)	S7N	probably benign	Het
Wapl	T	A	14: 34,414,063 (GRCm39)	N308K	possibly 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
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
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'- CATCCAAGTACAACTTAGTCTCCTG -3'
(R):5'- TCCACAATAAGGAAAGTGCTGTG -3'

Sequencing Primer
(F):5'- GTTAGGTCTACACAGTGAGACCC -3'
(R):5'- TGCTGTGAAGAAGAAGCTTAGC -3'

Posted On

2022-09-12