Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Sbf1'

357223

Institutional Source

Beutler Lab

Gene Symbol

Sbf1

Ensembl Gene

ENSMUSG00000036529

Gene Name

SET binding factor 1

Synonyms

B230113C15Rik, 2610510A08Rik, Mtmr5

MMRRC Submission

042029-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R4747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89172439-89199514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89186916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 821 (D821N)

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

probably damaging
Transcript: ENSMUST00000123791
AA Change: D821N

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

SMART Domains

Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: D821N

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

probably benign
Transcript: ENSMUST00000124576

SMART Domains

Protein: ENSMUSP00000115740
Gene: ENSMUSG00000036529

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

unknown
Transcript: ENSMUST00000124642
AA Change: R133Q

SMART Domains

Protein: ENSMUSP00000119943
Gene: ENSMUSG00000036529
AA Change: R133Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144585
AA Change: D821N

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

SMART Domains

Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: D821N

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

probably benign
Transcript: ENSMUST00000146637

SMART Domains

Protein: ENSMUSP00000122386
Gene: ENSMUSG00000036529

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155146

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	A	G	1: 63,795,568 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,903,334 (GRCm39)	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,213,077 (GRCm39)	N372K	probably benign	Het
Adh1	G	A	3: 137,994,642 (GRCm39)	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,504,718 (GRCm39)	N730K	probably benign	Het
Aoc2	A	T	11: 101,219,646 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Ccdc7b	T	C	8: 129,904,716 (GRCm39)	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,833,509 (GRCm39)	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,418,348 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,625,922 (GRCm39)	C792S	probably damaging	Het
Ciao3	A	T	17: 25,999,327 (GRCm39)	Y247F	probably benign	Het
Cnot1	T	C	8: 96,501,310 (GRCm39)	N86S	probably benign	Het
Comp	T	C	8: 70,829,352 (GRCm39)	C310R	probably damaging	Het
Crtc2	A	T	3: 90,167,518 (GRCm39)	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,550,559 (GRCm39)	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,214,491 (GRCm39)	R225*	probably null	Het
Dao	A	T	5: 114,150,693 (GRCm39)	D99V	probably benign	Het
Dgkd	A	G	1: 87,861,889 (GRCm39)	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,699,892 (GRCm39)	T247A	probably benign	Het
Dnah7c	G	C	1: 46,572,328 (GRCm39)	D934H	probably damaging	Het
Dnajc15	T	C	14: 78,081,896 (GRCm39)	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,966,872 (GRCm39)	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,227,615 (GRCm39)	K541R	probably damaging	Het
Elp4	G	A	2: 105,624,952 (GRCm39)	R196C	probably damaging	Het
Epha8	GC	G	4: 136,666,006 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,291,864 (GRCm39)	V1076A	probably benign	Het
Fgd4	T	C	16: 16,241,793 (GRCm39)	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,483,114 (GRCm39)	C1028F	probably damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,268,277 (GRCm39)		probably null	Het
Garem1	C	A	18: 21,263,000 (GRCm39)	V605L	probably benign	Het
Gbp7	A	T	3: 142,248,778 (GRCm39)	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,610,840 (GRCm39)	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,750,422 (GRCm39)	H532Q	probably damaging	Het
Herc2	A	G	7: 55,756,141 (GRCm39)	E727G	possibly damaging	Het
Hfm1	G	A	5: 107,065,389 (GRCm39)	H97Y	probably benign	Het
Idua	G	T	5: 108,828,902 (GRCm39)	R335L	probably damaging	Het
Ifi207	A	G	1: 173,556,633 (GRCm39)	S702P	probably benign	Het
Kif16b	A	T	2: 142,699,346 (GRCm39)	V78D	probably damaging	Het
Klra17	T	A	6: 129,849,232 (GRCm39)	D114V	probably damaging	Het
Krt76	A	G	15: 101,794,180 (GRCm39)	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,798,950 (GRCm39)	D153G	probably damaging	Het
Med21	T	A	6: 146,550,700 (GRCm39)	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,113,237 (GRCm39)	M739K	probably benign	Het
Myo1a	A	G	10: 127,550,307 (GRCm39)	E549G	probably damaging	Het
Neu1	A	G	17: 35,153,359 (GRCm39)	D294G	possibly damaging	Het
Nmur2	A	T	11: 55,931,105 (GRCm39)	I202K	probably benign	Het
Nop2	T	A	6: 125,114,057 (GRCm39)	D174E	probably benign	Het
Ogfr	A	T	2: 180,236,216 (GRCm39)	H267L	probably damaging	Het
Or10p1	G	T	10: 129,444,053 (GRCm39)	A99E	possibly damaging	Het
Or5m8	A	G	2: 85,822,271 (GRCm39)	T37A	probably damaging	Het
P2ry13	T	A	3: 59,117,308 (GRCm39)	I157F	probably benign	Het
Pank4	T	C	4: 155,063,989 (GRCm39)	V660A	probably damaging	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,577,868 (GRCm39)	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,809,799 (GRCm39)	Q751K	probably benign	Het
Pcnt	C	T	10: 76,272,299 (GRCm39)	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,575,072 (GRCm39)	F613I	probably benign	Het
Pias2	T	C	18: 77,240,488 (GRCm39)	*615Q	probably null	Het
Plb1	A	T	5: 32,507,003 (GRCm39)	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,013,396 (GRCm39)	L506P	probably damaging	Het
Qrfp	T	C	2: 31,698,852 (GRCm39)	T27A	probably damaging	Het
Relb	C	A	7: 19,361,847 (GRCm39)		probably null	Het
Resf1	A	T	6: 149,228,392 (GRCm39)	E479D	probably damaging	Het
Rgl1	G	T	1: 152,400,450 (GRCm39)	C685*	probably null	Het
Ric8b	A	G	10: 84,753,628 (GRCm39)	Y8C	probably benign	Het
Rrp36	G	A	17: 46,980,893 (GRCm39)	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504 (GRCm39)	Q586*	probably null	Het
Septin8	G	C	11: 53,427,545 (GRCm39)	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,927 (GRCm39)	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,592,498 (GRCm39)	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,536,782 (GRCm39)	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,058,983 (GRCm39)	I373T	probably benign	Het
Sptbn2	T	A	19: 4,798,182 (GRCm39)	M1969K	probably benign	Het
St14	G	A	9: 31,015,053 (GRCm39)	T315M	possibly damaging	Het
Tagap	G	A	17: 8,151,030 (GRCm39)	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,733,476 (GRCm39)	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,854,187 (GRCm39)	D182G	probably damaging	Het
Tinag	A	G	9: 76,904,238 (GRCm39)	V395A	probably benign	Het
Tmc8	A	G	11: 117,683,550 (GRCm39)	S702G	probably benign	Het
Tmem202	A	G	9: 59,426,477 (GRCm39)	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,145,764 (GRCm39)	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,455,479 (GRCm39)	S647C	probably damaging	Het
Tram1	A	T	1: 13,659,870 (GRCm39)	I26N	probably damaging	Het
Ttc6	A	T	12: 57,721,478 (GRCm39)	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,036,372 (GRCm39)	T334A	possibly damaging	Het
Ttn	A	T	2: 76,750,086 (GRCm39)	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,639,832 (GRCm39)	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284 (GRCm39)	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 63,989,267 (GRCm39)	I69V	probably benign	Het
Zfp180	A	T	7: 23,805,246 (GRCm39)	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403 (GRCm39)	N185S	probably benign	Het
Zfp445	C	T	9: 122,686,215 (GRCm39)	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476 (GRCm39)	E1814G	probably benign	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
R2207:Sbf1	UTSW	15	89,190,896 (GRCm39)	missense	possibly damaging	0.88
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
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'- GCATCTGGACAATGTCTAGGGG -3'
(R):5'- CATGAGCTACCTTCTGCTGC -3'

Sequencing Primer
(F):5'- TGTCTAGGGGAGAGCAGGTC -3'
(R):5'- CCTCTGGACAGCAGCAAGAG -3'

Posted On

2015-11-11