Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Sbf1'

22212

Institutional Source

Beutler Lab

Gene Symbol

Sbf1

Ensembl Gene

ENSMUSG00000036529

Gene Name

SET binding factor 1

Synonyms

B230113C15Rik, 2610510A08Rik, Mtmr5

MMRRC Submission

038424-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.521) question?

Stock #

R0139 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

89288236-89315311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89302498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 866 (L866Q)

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: L866Q

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

SMART Domains

Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: L866Q

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

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

probably damaging
Transcript: ENSMUST00000144585
AA Change: L866Q

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

SMART Domains

Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: L866Q

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: ENSMUST00000155146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184827

Meta Mutation Damage Score

0.5122

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,214		probably benign	Het
2010111I01Rik	A	G	13: 63,190,484	N558S	probably benign	Het
A230072I06Rik	C	T	8: 12,279,899	S118L	unknown	Het
Adprhl2	A	G	4: 126,318,154	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,386,138	S544P	probably benign	Het
Arhgef7	A	G	8: 11,800,503	E111G	probably damaging	Het
Atp11a	A	G	8: 12,846,054	M755V	probably benign	Het
Atp2a2	A	G	5: 122,491,715	I97T	probably damaging	Het
Bmp3	G	A	5: 98,879,909	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,278,269		probably benign	Het
Ccdc28a	G	A	10: 18,230,440	S46F	possibly damaging	Het
Ccdc36	T	C	9: 108,412,496	T176A	probably damaging	Het
Ccdc40	G	A	11: 119,264,299	G1122S	probably benign	Het
Cenpw	T	G	10: 30,200,459	T8P	probably benign	Het
Cfap44	G	C	16: 44,433,422	G893R	possibly damaging	Het
Cops7a	A	T	6: 124,961,360	C110S	probably damaging	Het
Cstl1	A	G	2: 148,755,325	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,811,689		probably null	Het
Dio2	T	A	12: 90,729,843	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,154,526	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,845,981	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,149,653	H162P	probably damaging	Het
Exoc5	C	T	14: 49,036,036	E301K	probably damaging	Het
F13b	G	A	1: 139,508,203	S249N	probably damaging	Het
Fam120b	C	T	17: 15,426,184		probably benign	Het
Gbf1	T	C	19: 46,261,792	L396S	probably damaging	Het
Gck	T	A	11: 5,909,139	K143*	probably null	Het
Gck	C	A	11: 5,910,370	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,660,810	N138S	probably damaging	Het
Gm17359	A	T	3: 79,405,835	Y72F	probably damaging	Het
Gm4884	T	C	7: 41,042,963	F119L	probably benign	Het
Igsf11	T	C	16: 39,008,878	S45P	probably damaging	Het
Il10	G	A	1: 131,022,534	V142M	probably damaging	Het
Insc	A	T	7: 114,769,002	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,809,758		probably benign	Het
Katnb1	A	G	8: 95,098,422	S611G	possibly damaging	Het
Kcnb1	A	G	2: 167,105,539	I463T	possibly damaging	Het
Lao1	A	G	4: 118,964,202	N90S	probably benign	Het
Med16	T	A	10: 79,896,801	M710L	probably benign	Het
Mroh2a	G	C	1: 88,257,802	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,016,196		probably benign	Het
Mybpc3	A	G	2: 91,120,337		probably benign	Het
Ndor1	C	T	2: 25,248,354	V405M	possibly damaging	Het
Nell2	A	G	15: 95,432,901	V213A	probably benign	Het
Nme8	T	C	13: 19,677,848	I204V	probably benign	Het
Nup133	A	T	8: 123,929,343	N466K	probably benign	Het
Nxt1	A	G	2: 148,675,470	T44A	probably benign	Het
Olfr1303	A	T	2: 111,814,354	I124K	possibly damaging	Het
Olfr1382	C	T	11: 49,535,574	L130F	probably benign	Het
Olfr1508	T	C	14: 52,463,212	T239A	probably damaging	Het
Olfr310	T	C	7: 86,268,979	E270G	probably benign	Het
Olfr697	A	T	7: 106,741,625	I103N	probably benign	Het
Olfr859	C	T	9: 19,808,869	L184F	probably damaging	Het
Pced1a	T	C	2: 130,421,907	K275R	probably benign	Het
Pdcd11	A	G	19: 47,110,959		probably null	Het
Phldb2	A	C	16: 45,770,666		probably benign	Het
Pifo	A	T	3: 105,999,570	M171K	possibly damaging	Het
Piwil1	C	A	5: 128,747,323	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,163,675		probably benign	Het
Ppargc1b	A	T	18: 61,315,963		probably benign	Het
Psg19	C	T	7: 18,797,017	V71I	possibly damaging	Het
Ptk6	T	C	2: 181,196,931		probably benign	Het
Pus7	A	G	5: 23,778,092	S126P	probably damaging	Het
Rab6b	T	A	9: 103,140,377		probably null	Het
Ranbp3	G	A	17: 56,709,272	R347Q	possibly damaging	Het
Slc25a34	A	G	4: 141,622,352	V164A	possibly damaging	Het
Smg1	A	G	7: 118,152,675		probably null	Het
Spin1	G	T	13: 51,149,012	V214L	probably benign	Het
Sptbn1	T	C	11: 30,142,289	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,029,795		noncoding transcript	Het
Taar7f	T	C	10: 24,050,414	I302T	probably benign	Het
Tdrd1	C	A	19: 56,843,198	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,067,801	D498G	probably benign	Het
Tpgs2	A	G	18: 25,149,185	L103P	probably damaging	Het
Trip10	A	G	17: 57,261,633		probably null	Het
Trip6	A	T	5: 137,312,174	H269Q	probably benign	Het
Trmt12	T	C	15: 58,872,894	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,812,771	S1416T	probably benign	Het
Tsks	G	A	7: 44,954,459	A438T	probably benign	Het
Ttn	T	C	2: 76,897,286		probably benign	Het
Twf2	G	A	9: 106,212,956	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223	Y115D	probably damaging	Het
Vcan	A	G	13: 89,691,261	S2055P	probably damaging	Het
Yes1	A	G	5: 32,684,695	Q521R	possibly damaging	Het
Zfp114	A	T	7: 24,181,260	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,578,612	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,770,470	Y430N	probably damaging	Het

Other mutations in Sbf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00265:Sbf1	APN	15	89305575	missense	probably damaging	0.98
IGL01478:Sbf1	APN	15	89299743	missense	probably damaging	0.97
IGL01533:Sbf1	APN	15	89288716	missense	probably damaging	0.99
IGL01603:Sbf1	APN	15	89303278	missense	probably damaging	1.00
IGL01758:Sbf1	APN	15	89303215	unclassified	probably benign
IGL01908:Sbf1	APN	15	89302726	missense	probably damaging	1.00
IGL02067:Sbf1	APN	15	89289044	missense	probably damaging	1.00
IGL02089:Sbf1	APN	15	89302505	nonsense	probably null
IGL02150:Sbf1	APN	15	89295480	missense	probably benign	0.00
IGL02284:Sbf1	APN	15	89305078	missense	probably damaging	1.00
IGL02367:Sbf1	APN	15	89307572	missense	probably damaging	0.99
IGL02427:Sbf1	APN	15	89305985	unclassified	probably benign
IGL03025:Sbf1	APN	15	89289645	missense	probably damaging	1.00
IGL03103:Sbf1	APN	15	89293947	missense	probably damaging	1.00
IGL03226:Sbf1	APN	15	89289105	missense	possibly damaging	0.93
IGL03376:Sbf1	APN	15	89289016	unclassified	probably benign
IGL03397:Sbf1	APN	15	89288721	missense	probably damaging	1.00
R0043:Sbf1	UTSW	15	89295561	missense	probably benign	0.26
R0528:Sbf1	UTSW	15	89288712	missense	probably damaging	0.99
R0624:Sbf1	UTSW	15	89302329	missense	possibly damaging	0.68
R0759:Sbf1	UTSW	15	89304716	missense	probably damaging	1.00
R1555:Sbf1	UTSW	15	89305076	missense	probably damaging	1.00
R1763:Sbf1	UTSW	15	89294425	missense	probably damaging	1.00
R2025:Sbf1	UTSW	15	89302730	missense	probably damaging	1.00
R2207:Sbf1	UTSW	15	89306693	missense	possibly damaging	0.88
R2844:Sbf1	UTSW	15	89303218	critical splice donor site	probably null
R2845:Sbf1	UTSW	15	89303218	critical splice donor site	probably null
R3788:Sbf1	UTSW	15	89299528	nonsense	probably null
R4108:Sbf1	UTSW	15	89288585	unclassified	probably benign
R4403:Sbf1	UTSW	15	89293954	missense	possibly damaging	0.94
R4605:Sbf1	UTSW	15	89303481	missense	probably damaging	1.00
R4620:Sbf1	UTSW	15	89306926	missense	probably damaging	0.99
R4666:Sbf1	UTSW	15	89295246	missense	probably damaging	1.00
R4696:Sbf1	UTSW	15	89303112	nonsense	probably null
R4697:Sbf1	UTSW	15	89315085	missense	possibly damaging	0.71
R4747:Sbf1	UTSW	15	89302713	missense	probably damaging	1.00
R5828:Sbf1	UTSW	15	89288634	missense	probably damaging	1.00
R5841:Sbf1	UTSW	15	89308068	missense	probably damaging	1.00
R6185:Sbf1	UTSW	15	89305611	missense	probably damaging	1.00
R6237:Sbf1	UTSW	15	89293476	missense	probably benign	0.29
R6256:Sbf1	UTSW	15	89300867	missense	probably benign	0.06
R6490:Sbf1	UTSW	15	89304908	missense	probably benign
R6933:Sbf1	UTSW	15	89300369	missense	probably damaging	1.00
R7806:Sbf1	UTSW	15	89305420	missense	possibly damaging	0.52
R7921:Sbf1	UTSW	15	89306223	missense	probably damaging	0.96
R8005:Sbf1	UTSW	15	89294205	missense	probably damaging	0.98
R8350:Sbf1	UTSW	15	89299509	missense	probably damaging	0.99
R8450:Sbf1	UTSW	15	89299509	missense	probably damaging	0.99
R8509:Sbf1	UTSW	15	89293457	missense	probably damaging	1.00
R8753:Sbf1	UTSW	15	89295459	missense	probably benign
R8788:Sbf1	UTSW	15	89301859	missense	probably damaging	1.00
R9182:Sbf1	UTSW	15	89289603	critical splice donor site	probably null
R9516:Sbf1	UTSW	15	89300539	missense	probably damaging	1.00
R9608:Sbf1	UTSW	15	89307605	critical splice acceptor site	probably null
R9673:Sbf1	UTSW	15	89295472	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TGTGGTAAGGAAGACAGCACCCTC -3'
(R):5'- GCTTCATCAACCGCTTTGTGGAC -3'

Sequencing Primer
(F):5'- GTCTGGCAGCAGATACACTC -3'
(R):5'- TGGACAAAGTCTGCACAGAG -3'

Posted On

2013-04-16