Incidental Mutation 'IGL01758:Sbf1'
| ID |
153488 |
| 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 |
|
| Is this an essential gene? |
Possibly essential
(E-score: 0.571)
|
| Stock # |
IGL01758
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89288236-89315311 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 89303215 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123791]
[ENSMUST00000124576]
[ENSMUST00000144585]
[ENSMUST00000146637]
|
| AlphaFold |
Q6ZPE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123791
|
| SMART Domains |
Protein: ENSMUSP00000120725
Gene: ENSMUSG00000036529
| 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 benign
Transcript: ENSMUST00000144585
|
| SMART Domains |
Protein: ENSMUSP00000118107
Gene: ENSMUSG00000036529
| 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
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 120,010,819 |
D860G |
possibly damaging |
Het |
| Acot7 |
T |
C |
4: 152,217,793 |
C121R |
probably damaging |
Het |
| Adam19 |
A |
T |
11: 46,112,924 |
H193L |
probably benign |
Het |
| AI661453 |
T |
A |
17: 47,466,623 |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,826,610 |
|
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,212,829 |
|
probably benign |
Het |
| Capn12 |
G |
A |
7: 28,886,623 |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,474,183 |
Q713R |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,953,580 |
L103Q |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,265,846 |
T475S |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,296,209 |
D1270E |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 106,904,793 |
K275E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,280,714 |
D426G |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,238,248 |
S62P |
probably damaging |
Het |
| Olfr275 |
G |
T |
4: 52,825,468 |
E24* |
probably null |
Het |
| Olfr914 |
T |
A |
9: 38,607,293 |
I276K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 150,101,989 |
|
probably null |
Het |
| Rxfp1 |
T |
A |
3: 79,652,216 |
I433F |
possibly damaging |
Het |
| Serpinb13 |
T |
G |
1: 107,000,754 |
F368C |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,541,461 |
S80R |
probably damaging |
Het |
| Spats2l |
G |
T |
1: 57,879,556 |
V30L |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,136,921 |
E195G |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,844,958 |
|
probably benign |
Het |
| Tmem165 |
A |
G |
5: 76,204,163 |
T164A |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,486,045 |
|
probably null |
Het |
| Trip10 |
T |
A |
17: 57,261,409 |
V405E |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,152,013 |
C28* |
probably null |
Het |
| Wdr60 |
G |
A |
12: 116,218,798 |
P728L |
possibly damaging |
Het |
| Zbtb8a |
C |
T |
4: 129,357,847 |
C277Y |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,979,526 |
F1705S |
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 |
|
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 |
|
R0139:Sbf1
|
UTSW |
15 |
89302498 |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation