Mutagenetix > Incidental Mutation

Incidental Mutation 'R7806:Sbf1'

600817

Institutional Source

Beutler Lab

Gene Symbol

Sbf1

Ensembl Gene

ENSMUSG00000036529

Gene Name

SET binding factor 1

Synonyms

B230113C15Rik, 2610510A08Rik, Mtmr5

MMRRC Submission

045861-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R7806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89172439-89199514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89189623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 419 (V419A)

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 benign
Transcript: ENSMUST00000123791
AA Change: V419A

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: V419A

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

possibly damaging
Transcript: ENSMUST00000144585
AA Change: V419A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: V419A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (83/85)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,569,143 (GRCm39)	V144F	probably benign	Het
Aar2	T	A	2: 156,393,031 (GRCm39)	I140N	possibly damaging	Het
Abca15	A	G	7: 119,932,059 (GRCm39)	N104S	probably damaging	Het
Adam22	A	T	5: 8,142,825 (GRCm39)	N803K	probably damaging	Het
Adk	A	G	14: 21,376,679 (GRCm39)	N26S		Het
Ak9	A	C	10: 41,309,080 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,487 (GRCm39)	D40G	probably benign	Het
Ankrd65	A	T	4: 155,877,437 (GRCm39)	H316L	probably benign	Het
Cabp7	C	T	11: 4,688,889 (GRCm39)	A194T	probably damaging	Het
Ccdc180	A	C	4: 45,912,801 (GRCm39)	K593N	possibly damaging	Het
Cd80	A	G	16: 38,294,315 (GRCm39)	D66G	probably benign	Het
Cdh5	T	C	8: 104,867,448 (GRCm39)	V575A	probably damaging	Het
Cep350	T	C	1: 155,737,809 (GRCm39)	Q2678R	probably benign	Het
Cideb	G	A	14: 55,992,625 (GRCm39)	T97M	probably damaging	Het
Clca4b	T	C	3: 144,638,157 (GRCm39)	D35G	probably benign	Het
Clpx	T	C	9: 65,207,213 (GRCm39)	V37A	probably benign	Het
Cmya5	A	C	13: 93,230,770 (GRCm39)	S1439R	probably benign	Het
Cndp2	T	A	18: 84,688,945 (GRCm39)	H279L	probably benign	Het
Cngb1	A	T	8: 96,025,432 (GRCm39)		probably null	Het
Cpq	T	A	15: 33,497,443 (GRCm39)	N394K	possibly damaging	Het
Dedd	T	C	1: 171,166,062 (GRCm39)	L60P	probably benign	Het
Dennd3	C	A	15: 73,442,624 (GRCm39)	L1216M	possibly damaging	Het
Dntt	A	T	19: 41,018,071 (GRCm39)	N65I	probably benign	Het
Fap	T	A	2: 62,333,758 (GRCm39)	E662V	probably damaging	Het
Fasn	A	T	11: 120,700,821 (GRCm39)	M2066K	probably benign	Het
Fggy	G	A	4: 95,489,203 (GRCm39)	G69E	probably benign	Het
Foxc1	G	T	13: 31,992,739 (GRCm39)	G517C	unknown	Het
Gas2l3	A	G	10: 89,249,232 (GRCm39)	Y629H	probably benign	Het
Gcnt2	A	G	13: 41,071,717 (GRCm39)	N120S	probably damaging	Het
Gfpt2	A	G	11: 49,714,142 (GRCm39)	T300A	probably benign	Het
Glud1	A	G	14: 34,065,606 (GRCm39)	R535G	probably damaging	Het
Gm3248	T	A	14: 5,943,883 (GRCm38)	I114L	probably benign	Het
Gm3278	G	A	14: 16,082,211 (GRCm39)		probably null	Het
Gm3402	A	C	5: 146,451,090 (GRCm39)	K44Q	probably damaging	Het
Gm3696	C	G	14: 18,433,094 (GRCm39)	R188S	probably benign	Het
Gm3696	C	A	14: 18,433,095 (GRCm39)	R188M	probably benign	Het
Gmppa	T	C	1: 75,415,581 (GRCm39)	L113P	probably damaging	Het
Gmps	A	G	3: 63,890,091 (GRCm39)		probably null	Het
Gnal	T	A	18: 67,346,145 (GRCm39)	M275K	probably damaging	Het
Gopc	G	C	10: 52,229,525 (GRCm39)	N231K	probably damaging	Het
Gpr152	T	C	19: 4,193,487 (GRCm39)	S343P	probably benign	Het
Gpr17	T	C	18: 32,080,593 (GRCm39)	I157V	probably benign	Het
Grm7	T	A	6: 111,223,314 (GRCm39)	Y451*	probably null	Het
Ikbke	T	C	1: 131,199,635 (GRCm39)	E286G	probably damaging	Het
Inpp5b	A	T	4: 124,678,881 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,818,765 (GRCm39)	L664F	probably benign	Het
Kif17	A	G	4: 138,015,507 (GRCm39)	E552G	possibly damaging	Het
Lamtor1	T	A	7: 101,555,220 (GRCm39)	Y5*	probably null	Het
Lpin2	A	G	17: 71,552,166 (GRCm39)	I829V	probably damaging	Het
Lrg1	T	G	17: 56,426,967 (GRCm39)	D335A	probably benign	Het
Lrriq3	T	C	3: 154,804,444 (GRCm39)	Y35H	probably damaging	Het
Mkx	T	A	18: 7,000,607 (GRCm39)	M112L	probably benign	Het
Mlxipl	A	C	5: 135,163,397 (GRCm39)	D760A	possibly damaging	Het
Muc6	T	C	7: 141,217,387 (GRCm39)	T2429A	possibly damaging	Het
N4bp2l2	A	G	5: 150,566,715 (GRCm39)	C134R	unknown	Het
Nanos1	A	G	19: 60,744,972 (GRCm39)	E90G	probably benign	Het
Nckap1	T	C	2: 80,371,843 (GRCm39)	D329G	probably damaging	Het
Or13a18	T	C	7: 140,190,685 (GRCm39)	I194T	probably benign	Het
Or14j9	A	C	17: 37,875,112 (GRCm39)	L30R	probably damaging	Het
Or8b12c	T	C	9: 37,715,872 (GRCm39)	S222P	probably damaging	Het
Or8g51	G	T	9: 38,609,567 (GRCm39)	L32I	probably benign	Het
Osbpl7	A	G	11: 96,946,954 (GRCm39)	H419R	probably benign	Het
Otog	C	T	7: 45,935,200 (GRCm39)	T1395I	probably benign	Het
Pigq	T	A	17: 26,150,700 (GRCm39)	I451F	probably benign	Het
Ptgfrn	A	G	3: 100,984,448 (GRCm39)	V248A	possibly damaging	Het
Rdh19	G	T	10: 127,692,740 (GRCm39)	V136L	probably damaging	Het
Rfesd	T	C	13: 76,156,308 (GRCm39)	T33A	possibly damaging	Het
Rnf213	G	A	11: 119,302,371 (GRCm39)	V432M		Het
Rpl22l1	T	A	3: 28,860,962 (GRCm39)	L60Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Serpinb6a	T	C	13: 34,119,548 (GRCm39)		probably null	Het
Slc22a4	A	G	11: 53,881,476 (GRCm39)	L414P	probably damaging	Het
Smarcd3	A	T	5: 24,798,260 (GRCm39)	V420D	probably benign	Het
Tcaim	A	G	9: 122,663,995 (GRCm39)	D495G	probably damaging	Het
Tep1	A	G	14: 51,074,266 (GRCm39)	V1873A	possibly damaging	Het
Tmcc2	T	C	1: 132,288,527 (GRCm39)	N387D	probably damaging	Het
Tmed8	A	T	12: 87,219,204 (GRCm39)	I322N	probably damaging	Het
Tmod4	A	C	3: 95,034,915 (GRCm39)	D168A	probably benign	Het
Trgc2	A	T	13: 19,491,390 (GRCm39)		probably benign	Het
Trp53bp1	C	T	2: 121,035,542 (GRCm39)	E1520K	probably damaging	Het
Trpv5	T	A	6: 41,651,867 (GRCm39)	I183F	probably damaging	Het
Vmn2r70	A	T	7: 85,208,401 (GRCm39)	I692K	probably benign	Het
Vmn2r87	T	A	10: 130,315,679 (GRCm39)	Y129F	probably benign	Het
Vps8	A	G	16: 21,278,501 (GRCm39)	D253G	probably damaging	Het
Ythdc2	T	C	18: 44,977,353 (GRCm39)	I383T	possibly damaging	Het
Ythdc2	T	C	18: 44,983,491 (GRCm39)	S553P	probably benign	Het
Zfyve26	A	G	12: 79,327,129 (GRCm39)		probably null	Het
Zic1	G	A	9: 91,247,024 (GRCm39)	T16I	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
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
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
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'- ATCCGTGCTACCTCATGAGC -3'
(R):5'- ATACTCACTGCACCGACCTG -3'

Sequencing Primer
(F):5'- GTGCTACCTCATGAGCCACCAG -3'
(R):5'- TTGCTCAGCTCCTGCAAGG -3'

Posted On

2019-11-26