Mutagenetix > Incidental Mutation

Incidental Mutation 'R2207:Sbf1'

239182

Institutional Source

Beutler Lab

Gene Symbol

Sbf1

Ensembl Gene

ENSMUSG00000036529

Gene Name

SET binding factor 1

Synonyms

B230113C15Rik, 2610510A08Rik, Mtmr5

MMRRC Submission

040209-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89172439-89199514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89190896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 225 (S225P)

Ref Sequence

ENSEMBL: ENSMUSP00000118107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123791] [ENSMUST00000124576] [ENSMUST00000144585] [ENSMUST00000146637]

AlphaFold

Q6ZPE2

PDB Structure

Solution Structure of the C-terminal Pleckstrin Homology Domain of Sbf1 from Mouse [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123791
AA Change: S225P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: S225P

Domain	Start	End	E-Value	Type
uDENN	1	86	6.68e-31	SMART
DENN	128	310	4.05e-71	SMART
dDENN	363	432	1.28e-18	SMART
Pfam:SBF2	540	764	4.1e-110	PFAM
GRAM	882	968	3.93e-12	SMART
Pfam:Myotub-related	1100	1534	6.2e-114	PFAM
low complexity region	1614	1621	N/A	INTRINSIC
low complexity region	1652	1666	N/A	INTRINSIC
low complexity region	1719	1750	N/A	INTRINSIC
PH	1762	1867	6.45e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124576
AA Change: S225P

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115740
Gene: ENSMUSG00000036529
AA Change: S225P

Domain	Start	End	E-Value	Type
uDENN	1	86	6.68e-31	SMART
DENN	128	310	4.05e-71	SMART
Pfam:dDENN	363	403	4.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124642

SMART Domains

Protein: ENSMUSP00000119943
Gene: ENSMUSG00000036529

Domain	Start	End	E-Value	Type
Pfam:SBF2	1	94	1.2e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144585
AA Change: S225P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: S225P

Domain	Start	End	E-Value	Type
uDENN	1	86	6.68e-31	SMART
DENN	128	310	4.05e-71	SMART
dDENN	363	432	1.28e-18	SMART
Pfam:SBF2	542	764	2.3e-108	PFAM
GRAM	882	968	3.93e-12	SMART
Pfam:Myotub-related	1106	1558	5.7e-93	PFAM
low complexity region	1640	1647	N/A	INTRINSIC
low complexity region	1678	1692	N/A	INTRINSIC
low complexity region	1745	1776	N/A	INTRINSIC
PH	1788	1893	6.45e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146637
AA Change: S125P

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122386
Gene: ENSMUSG00000036529
AA Change: S125P

Domain	Start	End	E-Value	Type
DENN	20	210	8.29e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184827

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
PHENOTYPE: Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abcb1b	C	T	5: 8,874,803 (GRCm39)	R488C	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Aicda	T	A	6: 122,538,244 (GRCm39)	V134D	possibly damaging	Het
Akt2	T	A	7: 27,336,625 (GRCm39)		probably null	Het
Aldh1a3	T	C	7: 66,055,769 (GRCm39)	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,338,569 (GRCm39)		probably null	Het
Anxa11	A	G	14: 25,874,721 (GRCm39)	Y244C	probably damaging	Het
Atp2c2	G	A	8: 120,475,048 (GRCm39)	R551Q	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bcl11a	G	T	11: 24,113,343 (GRCm39)	G229W	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,890,882 (GRCm39)	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,018,194 (GRCm39)		probably benign	Het
Cdk17	G	A	10: 93,064,624 (GRCm39)	D298N	probably damaging	Het
Cdkl3	A	G	11: 51,918,020 (GRCm39)	*354W	probably null	Het
Celf6	A	T	9: 59,511,610 (GRCm39)	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 122,990,766 (GRCm39)	L169F	probably damaging	Het
Col14a1	T	C	15: 55,327,082 (GRCm39)	F1411L	unknown	Het
Col4a2	G	T	8: 11,493,352 (GRCm39)	G1354W	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cst13	A	T	2: 148,665,202 (GRCm39)	R66W	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp1	A	G	1: 182,869,906 (GRCm39)	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dnah12	T	A	14: 26,503,744 (GRCm39)	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,817 (GRCm39)	L2406F	probably benign	Het
Fam98b	C	G	2: 117,098,300 (GRCm39)	R257G	probably damaging	Het
Fbn2	A	T	18: 58,214,471 (GRCm39)	C900*	probably null	Het
Fgf1	A	G	18: 38,980,138 (GRCm39)	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fsip2	T	G	2: 82,807,823 (GRCm39)	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,484,081 (GRCm39)	G85D	probably benign	Het
Gyg1	C	A	3: 20,204,703 (GRCm39)	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301 (GRCm39)	L312I	possibly damaging	Het
Hic2	T	C	16: 17,075,324 (GRCm39)	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hpx	C	T	7: 105,241,633 (GRCm39)	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,065,488 (GRCm39)	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,689,402 (GRCm39)	E397*	probably null	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Kdm2a	A	T	19: 4,412,898 (GRCm39)	D29E	probably damaging	Het
Lamc2	T	G	1: 153,009,452 (GRCm39)	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,297,372 (GRCm39)	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962 (GRCm39)	C96*	probably null	Het
Maf1	A	G	15: 76,236,718 (GRCm39)	T17A	probably benign	Het
Map1b	T	C	13: 99,567,591 (GRCm39)	D1710G	unknown	Het
Megf8	C	T	7: 25,049,222 (GRCm39)	T1773I	probably damaging	Het
Mei1	T	C	15: 81,987,450 (GRCm39)	M414T	probably benign	Het
Myo15a	A	G	11: 60,396,860 (GRCm39)	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,821,772 (GRCm39)	Y64H	probably damaging	Het
Neb	A	T	2: 52,101,579 (GRCm39)	L4354*	probably null	Het
Nom1	T	A	5: 29,644,972 (GRCm39)	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,315,082 (GRCm39)	T331M	probably damaging	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or4f14b	A	C	2: 111,775,270 (GRCm39)	F177C	probably damaging	Het
Or51a42	A	G	7: 103,708,612 (GRCm39)	S66P	probably damaging	Het
Pcdhb15	A	T	18: 37,608,075 (GRCm39)	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pgm2l1	T	A	7: 99,917,319 (GRCm39)		probably null	Het
Pih1d2	C	A	9: 50,532,379 (GRCm39)	H162N	probably benign	Het
Pitrm1	T	A	13: 6,619,327 (GRCm39)	Y721N	probably damaging	Het
Pla2r1	C	A	2: 60,288,779 (GRCm39)	V618F	probably damaging	Het
Plb1	T	C	5: 32,473,984 (GRCm39)	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,556,260 (GRCm39)	D562G	probably damaging	Het
Proser1	T	G	3: 53,385,812 (GRCm39)	S565A	probably benign	Het
Prx	T	A	7: 27,216,213 (GRCm39)	V238E	probably damaging	Het
Psapl1	T	C	5: 36,362,509 (GRCm39)	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,767,595 (GRCm39)	V128A	probably damaging	Het
Rrm1	T	A	7: 102,091,233 (GRCm39)	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Ryr2	A	G	13: 11,825,823 (GRCm39)	S552P	probably damaging	Het
Serpina3c	T	A	12: 104,117,757 (GRCm39)	I194F	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc6a1	T	A	6: 114,285,632 (GRCm39)	V356E	probably damaging	Het
Slfn1	A	G	11: 83,011,992 (GRCm39)	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spag16	A	G	1: 70,764,043 (GRCm39)	H621R	probably benign	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tg	G	A	15: 66,553,788 (GRCm39)	G401D	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Ttn	A	T	2: 76,796,155 (GRCm39)	I590K	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zfp131	A	T	13: 120,237,348 (GRCm39)	F303I	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp788	A	T	7: 41,299,064 (GRCm39)	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,292,861 (GRCm39)	V2096A	probably damaging	Het

Other mutations in Sbf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00265:Sbf1	APN	15	89,189,778 (GRCm39)	missense	probably damaging	0.98
IGL01478:Sbf1	APN	15	89,183,946 (GRCm39)	missense	probably damaging	0.97
IGL01533:Sbf1	APN	15	89,172,919 (GRCm39)	missense	probably damaging	0.99
IGL01603:Sbf1	APN	15	89,187,481 (GRCm39)	missense	probably damaging	1.00
IGL01758:Sbf1	APN	15	89,187,418 (GRCm39)	unclassified	probably benign
IGL01908:Sbf1	APN	15	89,186,929 (GRCm39)	missense	probably damaging	1.00
IGL02067:Sbf1	APN	15	89,173,247 (GRCm39)	missense	probably damaging	1.00
IGL02089:Sbf1	APN	15	89,186,708 (GRCm39)	nonsense	probably null
IGL02150:Sbf1	APN	15	89,179,683 (GRCm39)	missense	probably benign	0.00
IGL02284:Sbf1	APN	15	89,189,281 (GRCm39)	missense	probably damaging	1.00
IGL02367:Sbf1	APN	15	89,191,775 (GRCm39)	missense	probably damaging	0.99
IGL02427:Sbf1	APN	15	89,190,188 (GRCm39)	unclassified	probably benign
IGL03025:Sbf1	APN	15	89,173,848 (GRCm39)	missense	probably damaging	1.00
IGL03103:Sbf1	APN	15	89,178,150 (GRCm39)	missense	probably damaging	1.00
IGL03226:Sbf1	APN	15	89,173,308 (GRCm39)	missense	possibly damaging	0.93
IGL03376:Sbf1	APN	15	89,173,219 (GRCm39)	unclassified	probably benign
IGL03397:Sbf1	APN	15	89,172,924 (GRCm39)	missense	probably damaging	1.00
R0043:Sbf1	UTSW	15	89,179,764 (GRCm39)	missense	probably benign	0.26
R0139:Sbf1	UTSW	15	89,186,701 (GRCm39)	missense	probably damaging	1.00
R0528:Sbf1	UTSW	15	89,172,915 (GRCm39)	missense	probably damaging	0.99
R0624:Sbf1	UTSW	15	89,186,532 (GRCm39)	missense	possibly damaging	0.68
R0759:Sbf1	UTSW	15	89,188,919 (GRCm39)	missense	probably damaging	1.00
R1555:Sbf1	UTSW	15	89,189,279 (GRCm39)	missense	probably damaging	1.00
R1763:Sbf1	UTSW	15	89,178,628 (GRCm39)	missense	probably damaging	1.00
R2025:Sbf1	UTSW	15	89,186,933 (GRCm39)	missense	probably damaging	1.00
R2844:Sbf1	UTSW	15	89,187,421 (GRCm39)	critical splice donor site	probably null
R2845:Sbf1	UTSW	15	89,187,421 (GRCm39)	critical splice donor site	probably null
R3788:Sbf1	UTSW	15	89,183,731 (GRCm39)	nonsense	probably null
R4108:Sbf1	UTSW	15	89,172,788 (GRCm39)	unclassified	probably benign
R4403:Sbf1	UTSW	15	89,178,157 (GRCm39)	missense	possibly damaging	0.94
R4605:Sbf1	UTSW	15	89,187,684 (GRCm39)	missense	probably damaging	1.00
R4620:Sbf1	UTSW	15	89,191,129 (GRCm39)	missense	probably damaging	0.99
R4666:Sbf1	UTSW	15	89,179,449 (GRCm39)	missense	probably damaging	1.00
R4696:Sbf1	UTSW	15	89,187,315 (GRCm39)	nonsense	probably null
R4697:Sbf1	UTSW	15	89,199,288 (GRCm39)	missense	possibly damaging	0.71
R4747:Sbf1	UTSW	15	89,186,916 (GRCm39)	missense	probably damaging	1.00
R5828:Sbf1	UTSW	15	89,172,837 (GRCm39)	missense	probably damaging	1.00
R5841:Sbf1	UTSW	15	89,192,271 (GRCm39)	missense	probably damaging	1.00
R6185:Sbf1	UTSW	15	89,189,814 (GRCm39)	missense	probably damaging	1.00
R6237:Sbf1	UTSW	15	89,177,679 (GRCm39)	missense	probably benign	0.29
R6256:Sbf1	UTSW	15	89,185,070 (GRCm39)	missense	probably benign	0.06
R6490:Sbf1	UTSW	15	89,189,111 (GRCm39)	missense	probably benign
R6933:Sbf1	UTSW	15	89,184,572 (GRCm39)	missense	probably damaging	1.00
R7806:Sbf1	UTSW	15	89,189,623 (GRCm39)	missense	possibly damaging	0.52
R7921:Sbf1	UTSW	15	89,190,426 (GRCm39)	missense	probably damaging	0.96
R8005:Sbf1	UTSW	15	89,178,408 (GRCm39)	missense	probably damaging	0.98
R8350:Sbf1	UTSW	15	89,183,712 (GRCm39)	missense	probably damaging	0.99
R8450:Sbf1	UTSW	15	89,183,712 (GRCm39)	missense	probably damaging	0.99
R8509:Sbf1	UTSW	15	89,177,660 (GRCm39)	missense	probably damaging	1.00
R8753:Sbf1	UTSW	15	89,179,662 (GRCm39)	missense	probably benign
R8788:Sbf1	UTSW	15	89,186,062 (GRCm39)	missense	probably damaging	1.00
R9182:Sbf1	UTSW	15	89,173,806 (GRCm39)	critical splice donor site	probably null
R9516:Sbf1	UTSW	15	89,184,742 (GRCm39)	missense	probably damaging	1.00
R9608:Sbf1	UTSW	15	89,191,808 (GRCm39)	critical splice acceptor site	probably null
R9673:Sbf1	UTSW	15	89,179,675 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GACACTGTAAGCCTCAGACAGAG -3'
(R):5'- ACTCCACTGGTAGACTCACTG -3'

Sequencing Primer
(F):5'- CTCAGACAGAGGGCATAGGG -3'
(R):5'- GGTAGACTCACTGCCTGTCAG -3'

Posted On

2014-10-02