Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00265:Sbf1'

13916

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sbf1

Ensembl Gene

ENSMUSG00000036529

Gene Name

SET binding factor 1

Synonyms

B230113C15Rik, 2610510A08Rik, Mtmr5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

IGL00265

Quality Score

Status

Chromosome

Chromosomal Location

89172439-89199514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89189778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 391 (I391N)

Ref Sequence

ENSEMBL: ENSMUSP00000115740 (fasta)

Gene Model

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

AlphaFold

Q6ZPE2

Predicted Effect

probably benign
Transcript: ENSMUST00000123791
AA Change: I391N

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
AA Change: I391N

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 damaging
Transcript: ENSMUST00000124576
AA Change: I391N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115740
Gene: ENSMUSG00000036529
AA Change: I391N

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 benign
Transcript: ENSMUST00000144585
AA Change: I391N

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
AA Change: I391N

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: ENSMUST00000155146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176028

Coding Region Coverage

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: 1 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Fam13a	T	C	6: 58,923,111 (GRCm39)	T496A	probably benign	Het

Other mutations in Sbf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06