Incidental Mutation 'IGL02427:Sbf1'
ID |
292974 |
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 # |
IGL02427
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89172439-89199514 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 89190188 bp (GRCm39)
|
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: 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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
C |
T |
5: 99,381,829 (GRCm39) |
G311D |
probably damaging |
Het |
Ablim1 |
A |
T |
19: 57,068,312 (GRCm39) |
|
probably benign |
Het |
Adgrg2 |
T |
C |
X: 159,274,400 (GRCm39) |
F863S |
probably damaging |
Het |
B3galt2 |
A |
T |
1: 143,522,254 (GRCm39) |
H130L |
probably benign |
Het |
Bbs2 |
G |
A |
8: 94,807,746 (GRCm39) |
P378S |
possibly damaging |
Het |
Ccdc154 |
A |
T |
17: 25,390,731 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
C |
T |
12: 100,887,851 (GRCm39) |
C1543Y |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,846,517 (GRCm39) |
V647E |
probably damaging |
Het |
Cfap77 |
A |
T |
2: 28,845,592 (GRCm39) |
C258* |
probably null |
Het |
Cpsf4l |
T |
G |
11: 113,600,324 (GRCm39) |
|
probably benign |
Het |
Csrnp3 |
G |
A |
2: 65,708,380 (GRCm39) |
|
probably benign |
Het |
Cul9 |
G |
A |
17: 46,813,558 (GRCm39) |
T2305I |
possibly damaging |
Het |
Cwf19l1 |
G |
A |
19: 44,121,462 (GRCm39) |
Q29* |
probably null |
Het |
Cwf19l2 |
G |
T |
9: 3,456,817 (GRCm39) |
V717L |
probably benign |
Het |
Cyp1a1 |
A |
G |
9: 57,607,858 (GRCm39) |
Y162C |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,216,275 (GRCm39) |
D589G |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,689,815 (GRCm39) |
|
probably null |
Het |
Dtna |
T |
C |
18: 23,784,595 (GRCm39) |
Y705H |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,526,313 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
A |
3: 53,443,184 (GRCm39) |
N2527Y |
probably damaging |
Het |
Gm7694 |
T |
C |
1: 170,130,113 (GRCm39) |
D95G |
probably benign |
Het |
Haus5 |
T |
C |
7: 30,361,196 (GRCm39) |
T115A |
probably benign |
Het |
Kdm3a |
A |
T |
6: 71,569,184 (GRCm39) |
|
probably benign |
Het |
Klra6 |
T |
C |
6: 129,993,680 (GRCm39) |
D197G |
possibly damaging |
Het |
Lap3 |
T |
C |
5: 45,668,475 (GRCm39) |
V429A |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,981,042 (GRCm39) |
|
probably benign |
Het |
Myh9 |
T |
A |
15: 77,660,004 (GRCm39) |
Q88L |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,083,900 (GRCm39) |
|
probably benign |
Het |
Negr1 |
C |
T |
3: 156,267,827 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
T |
1: 151,593,025 (GRCm39) |
D570V |
probably damaging |
Het |
Nlrp9b |
T |
G |
7: 19,776,426 (GRCm39) |
C337W |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,957,988 (GRCm39) |
C3780S |
probably damaging |
Het |
Or1e19 |
A |
T |
11: 73,316,487 (GRCm39) |
F107L |
probably damaging |
Het |
Piwil2 |
T |
A |
14: 70,635,583 (GRCm39) |
|
probably benign |
Het |
Ppp6r3 |
T |
C |
19: 3,516,580 (GRCm39) |
S213G |
probably null |
Het |
Pxdn |
T |
A |
12: 30,034,531 (GRCm39) |
C39S |
probably damaging |
Het |
Raf1 |
T |
C |
6: 115,608,288 (GRCm39) |
N241S |
probably benign |
Het |
Rapgef3 |
A |
T |
15: 97,645,017 (GRCm39) |
|
probably null |
Het |
Rhox2h |
C |
T |
X: 36,854,526 (GRCm39) |
G72D |
probably benign |
Het |
Sema5a |
T |
C |
15: 32,673,690 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,688 (GRCm39) |
D993G |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,894,713 (GRCm39) |
C598S |
possibly damaging |
Het |
Sorl1 |
T |
C |
9: 41,952,986 (GRCm39) |
D685G |
probably damaging |
Het |
Sulf2 |
C |
T |
2: 165,931,218 (GRCm39) |
R263H |
probably damaging |
Het |
Tbx22 |
C |
A |
X: 106,724,777 (GRCm39) |
P17T |
probably damaging |
Het |
Tspoap1 |
A |
T |
11: 87,653,341 (GRCm39) |
T136S |
probably benign |
Het |
Tyw5 |
T |
C |
1: 57,427,884 (GRCm39) |
E240G |
possibly damaging |
Het |
Umodl1 |
C |
T |
17: 31,187,415 (GRCm39) |
|
probably benign |
Het |
Vmn1r60 |
T |
C |
7: 5,547,780 (GRCm39) |
T107A |
probably damaging |
Het |
Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
Zbtb11 |
A |
G |
16: 55,802,713 (GRCm39) |
D241G |
possibly damaging |
Het |
Zfp445 |
T |
C |
9: 122,681,295 (GRCm39) |
H882R |
probably benign |
Het |
Zscan30 |
T |
C |
18: 24,104,533 (GRCm39) |
|
noncoding transcript |
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 |
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 |
2015-04-16 |