Incidental Mutation 'IGL03025:Sbf1'
ID |
408130 |
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)
|
Stock # |
IGL03025
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89172439-89199514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89173848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1775
(T1775A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118107
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088788]
[ENSMUST00000123791]
[ENSMUST00000124576]
[ENSMUST00000144585]
[ENSMUST00000228284]
|
AlphaFold |
Q6ZPE2 |
PDB Structure |
Solution Structure of the C-terminal Pleckstrin Homology Domain of Sbf1 from Mouse [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088788
|
SMART Domains |
Protein: ENSMUSP00000086167 Gene: ENSMUSG00000036561
Domain | Start | End | E-Value | Type |
Pfam:SAPS
|
128 |
365 |
1.7e-73 |
PFAM |
Pfam:SAPS
|
361 |
534 |
2.4e-47 |
PFAM |
low complexity region
|
606 |
618 |
N/A |
INTRINSIC |
low complexity region
|
788 |
802 |
N/A |
INTRINSIC |
low complexity region
|
867 |
900 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123791
AA Change: T1749A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120725 Gene: ENSMUSG00000036529 AA Change: T1749A
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 |
noncoding transcript
Transcript: ENSMUST00000124398
|
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 damaging
Transcript: ENSMUST00000144585
AA Change: T1775A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118107 Gene: ENSMUSG00000036529 AA Change: T1775A
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 |
unknown
Transcript: ENSMUST00000175778
AA Change: T296A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176277
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226967
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227011
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226875
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
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 |
|
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 |
2016-08-02 |